Estimation of Non-Reimbursable Direct Medical Costs, Direct Non-Medical Costs, and Indirect Costs for Patients With Duchenne Muscular Dystrophy in France
Conditions: Duchenne Muscular Dystrophy
Sponsor: Assistance Publique - Hôpitaux de Paris

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Estimation of direct non-reimbursable medical costs, direct non-medical costs 
and indirect costs of patients with Duchenne de Boulogne disease in France 
CouDuMyo 
 
 
 
 
 
Sponsor: AP-HP  
 
 
 
 
Investigator coordinator: Pr. Isabelle DURAND-ZALESKI 
 
 
 
 

2 
 
ABSTRACT 
 
TITLE 
Estimation of direct non-reimbursable medical costs, direct non-medical 
costs and indirect costs for patients with Duchenne de Boulogne disease 
in France. ‘CouDuMyo’ 
SPONSOR 
AP-HP 
INVESTIGATOR COORDINATOR 
Pr Isabelle Durand-Zaleski  
Université de Paris, CRESS, INSERM, INRA,  
URCEco, AP-HP, Hôpital de l’Hôtel Dieu, F-75004, Paris, France 
Tel 01.40.27.41.43 ; Fax 01.40.27.41.49 
Email : isabelle.durand-zaleski@aphp.fr 
VERSION DU PROTOCOLE 
1.3 du 12/01/2023 
VERSION DU RÉSUMÉ 
1.2 du 15/11/2022 
JUSTIFICATION / CONTEXTE 
Duchenne muscular dystrophy (DMD) is a chronic neuromuscular 
disease affecting around 150 to 200 newborns per year, characterized 
by progressive muscle atrophy and weakness caused by complete 
dystrophin deficiency. DMD has a severe phenotype, with death most 
often occurring in the 3rd decade. 
Very little data is available on the use of care and associated costs for 
DMD patients, particularly in the context of care in France. A protocol 
to study the care pathway of these patients using data from the Banque 
nationale des données maladies rares (BNDMR) and the Système 
national des données de santé (SNDS) has been proposed by AP-HP 
(EPARDYS). It will be used to describe patient characteristics, healthcare 
utilization and associated costs. With regard to the latter, only direct 
costs eligible for reimbursement (Affection Longue Durée 100%) can be 
analyzed. 
The aim of the project is to meet the expectations of HAS and CEPS by 
providing medico-economic data for the evaluation of the gene therapy 
product currently being developed by Pfizer (fordadistrogene 
movaparvovec - PF-06939926). Clinical development began with a 
phase 1b trial (NCT03362502); a phase 3 trial is currently being recruited 
for ambulatory patients aged 4 to 7 years (NCT04281485), and a phase 
2 trial (NCT05429372) for patients aged ≥2 to <4 years. 
However, other resources are consumed by DMD patients, notably for 
their medical care, and are not eligible for reimbursement. What's 
more, the patient's level of dependence may mean that he or she has to 
make adjustments or incur other expenses outside the health sphere, 
but linked to the pathology. Finally, informal help can be very important. 
All these family costs need to be estimated. 
OBJECTIVES  
A protocol to study the care pathway of DMD patients using data from 
the Banque nationale des données maladies rares (BNDMR) and the 
Système national des données de santé (SNDS) has been proposed by 
AP-HP (EPARDYS). It will be used to describe patient characteristics, 
healthcare utilization and associated costs. With regard to the latter, 
only direct costs eligible for reimbursement (Affection Longue Durée 
100%) can be analyzed. 
Numerous studies show that the cost of managing Duchenne disease 
must take into account not only direct medical costs, but also non-
medical costs, including informal assistance, and indirect costs, which 
represent a significant proportion from a societal perspective. There is 
very little information available in France, so this assessment is relevant 

3 
 
in view of the development of new treatments that could substantially 
alter the nature of these costs.  In this study, we are interested in 
estimating all the relevant expenditure items from society's point of 
view, taking into account patients who are minors as well as adults who 
may have a professional activity. The medico-social aspect and the 
collection of aid and benefits received will also provide an insight into 
the nature of the support available to French families.  
• 
Research hypothesis 
In addition to the EPARDYS study of direct reimbursed medical costs, 
the aim of this study will be to carry out a specific analysis that takes 
into account the other costs associated with the management of the 
pathology, i.e., the direct costs of the healthcare sphere not eligible for 
reimbursement, the medico-social sphere and the domestic sphere, as 
well as the indirect costs associated with lost productivity. 
• 
Main objective  
Décrire les consommations de ressources liées à la prise en charge des 
patients atteints de DMD en dehors de celles éligibles au 
remboursement, c’est-à-dire en termes de : coûts directs médicaux non 
éligibles au remboursement et médico-sociaux, coûts directs non 
médicaux et coûts indirects. 
• 
Secondary objectives 
- Estimate the different types of costs identified for pathology 
management;  
- Estimate costs as a function of disease severity; 
- Describe the cost drivers identified 
METHOD 
This is a national, cross-sectional, non-comparative, sample-based cost 
analysis survey.  
Insofar as this study does not study the pathology itself, nor intervene 
in its management, it corresponds to research not involving the human 
person. 
CRITERIA  
• 
Main criterion 
Average annualized cost per patient/family.   
• 
Secondary criteria 
- Average annualized cost by type of cost and by patient/family. 
- Average annualized cost per patient/family for each stage of disease 
severity.  
- Cost drivers identified. 
POPULATION  
This study will focus on DMD patients of all ages included in the BNDMR. 
This database gathers data on all patients treated in the Centres experts 
maladies rares (CERDs) accredited by the DGOS, and shows a gross 
number of 2,028 DMD patients as of March 1, 2022. 
INCLUSION CRITERION 
- Patients of any age with DMD diagnosed more than 6 months ago; 
- Patients included in the BNDMR, who do not object to their data being 
collected, and who are alive at the time they are asked to take part in 
the study. 
NON-INCLUSION CRITERION 
- Patient participating in an interventional clinical study with 
modification of usual care;  
- Patient and/or primary caregiver objecting to the use of his/her data;  
- Patient and/or primary caregiver whose comprehension of the 
French language does not allow them to complete the questionnaire. 
STUDY EXIT CRITERIA 
Subjects may object to their participation and ask to leave the study 
during the interview, for whatever reason. In the event of premature 
exit (questionnaire not fully completed), and if the subject does not 
object, the data collected up to the point of objection will be analyzed. 

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PROCEDURES 
A standardized questionnaire will be sent to patient/caregiver couples 
with the information letter. A clinical research associate will then 
contact the patient and/or primary caregiver by telephone. The 
interview (30 minutes maximum) will be based on the questionnaire, 
and will ensure that the participant(s) have understood the questions 
and that all the required data have been collected. 
RATIO BENEFIT/RISK 
This is a descriptive study, the aim of which is to analyze the costs borne 
by patients and their caregivers, as well as the costs associated with 
informal help, in the context of DMD management in France. No 
individual benefit is expected from participation in this study, which will 
contribute to improving knowledge of the various expenses associated 
with the disease.  
The only constraint for participants will be to answer a questionnaire.  
Overall, the benefit/risk balance for the privacy of patients and families 
is therefore acceptable. 
SUBJECTS NUMBER 
The sample size for 15% accuracy is 171 patient/caregiver pairs 
according to the recommendations of Johnston et al. 2019. 
STUDY DURATION 
Inclusion period: 6 months (01/2023 - 06/2023) 
Duration of participation for each subject: completion of questionnaire 
(30 minutes max) 
Total study duration: 6 months (01/2023 - 06/2023) 
RESEARCH SITES 
All French centers accredited by the DGOS and providing the usual care 
for DMD patients, and contributing to their registration in the BNDMR. 
EXPECTED BENEFITS 
- For patients and their carers: find out what patients and carers 
consume in connection with the disease, identify the most significant 
expenditure items, contribute to the development of the HAS ALD 
guides.  
- For HAS and the Comité Economique des Produits de Santé (CEPS): 
identify and quantify expenses associated with the disease in the 
absence of specific treatment. 
Knowledge of disease-related consumption (excluding direct medical 
costs) as a function of patient characteristics complements the EPARDYS 
study's collection of direct medical costs. It will thus provide a complete 
picture of Duchenne-related expenses borne by patients and caregivers 
in France. 
 

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LIST of ABBREVIATIONS 
 
ALD 
Affection Longue Durée 
AP-HP 
Assistance Publique Hôpitaux de Paris 
BNDMR 
Banque Nationale de Données Maladies Rares 
CEPS 
Comité Economique des Produits de la Santé 
DGOS 
Direction Générale de l’Offre de Soins 
DMD 
Dystrophie Musculaire de Duchenne 
DPO 
Data Privacy Officer - Délégué à la protection des 
données 
DRCI 
Direction de la Recherche Clinique et de 
l’Innovation 
DSI 
Direction des systèmes d’information 
DSN 
Direction des Services Numériques 
HAS 
Haute Autorité de Santé 
MDPH 
Maison 
Départementale 
des 
Personnes 
Handicapées 
PNDS 
Protocoles Nationaux de Diagnostic et de Soins 
SNDS 
Système National des Données de Santé 

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CONTENT 
 
 
1. GENERAL INFORMATION ..................................................................................................................... 8 
1.1.1 Investigators ....................................................................................................................... 8 
The investigators also form the study's scientific committee. ........................................... 8 
1.2 
Associate scientists .................................................................................................. 8 
1.3 
Epidemiologist & Biostatistician .............................................................................. 8 
1.4 
Financing .................................................................................................................. 8 
2 SCIENTIFIC RATIONALE ........................................................................................................................ 9 
2.1 
Current state of knowledge ..................................................................................... 9 
2.2 
Hypothesis.............................................................................................................. 10 
2.3 
Target population .................................................................................................. 11 
2.4 
Ratio benefits/risks ................................................................................................ 11 
2.5 
Expected benefits................................................................................................... 13 
3 OBJECTIVES ........................................................................................................................................13 
3.1 
Main objective ....................................................................................................... 13 
3.2 
Secondary objectives ............................................................................................. 13 
4 RESEARCH DESIGN.............................................................................................................................13 
4.1 
Study type .............................................................................................................. 13 
4.2 
Assessment criteria ................................................................................................ 13 
4.2.1 Main citerion .................................................................................................................... 13 
4.2.2 Secondary criteria ............................................................................................................. 14 
5 ELIGIBILITY CRITERIA .........................................................................................................................15 
5.1 
Inclusion criteria ..................................................................................................... 15 
5.2 
Non inclusion criteria ............................................................................................. 15 
5.3 
Patients identification in BNDMR .......................................................................... 15 
5.4 
Recruitment methods and feasibility ..................................................................... 15 
6 GENERALE ORGANISATION ...............................................................................................................15 
6.1 
Study calendar ....................................................................................................... 15 
6.2 
Schematic diagram ................................................................................................. 15 
6.3 
Conduct of the study .............................................................................................. 16 
6.3.1 Inclusion ............................................................................................................................ 16 
6.3.2 Questionnaire answering ................................................................................................. 16 
6.4 
Temporary or permanent shutdown rules ............................................................ 16 
7 COST Evaluation ................................................................................................................................17 
7.1 
Perspective ............................................................................................................. 17 
7.2 
Timeframe .............................................................................................................. 17 
7.3 
Identification et quantification des ressources consommées ............................... 17 
7.4 
Resource valorization ............................................................................................. 18 
8 STATISTICAL ASPECTS ........................................................................................................................19 
8.1 
Number of necessary subjects ............................................................................... 19 
8.2 
Population .............................................................................................................. 19 
8.3 
Statistical methods................................................................................................. 19 
8.4 
Method for Handling Missing Data ........................................................................ 19 
8.5 
Exclusion of Data in Statistical Analysis. Management of Changes Made to the 
Analysis Plan...................................................................................................................... 19 
8.6 
Person Responsible for the Analyses ..................................................................... 19 
9 RIGHTS OF ACCESS TO DATA AND SOURCE DOCUMENTS ................................................................20 
9.1 
Collected Data ........................................................................................................ 20 
9.2 
Source Documents ................................................................................................. 20 
9.3 
Data Confidentiality ............................................................................................... 20 
10 CONTROL AND QUALITY ASSURANCE ...............................................................................................20 
10.1 Qualification of Participants .................................................................................. 20 
10.2 Data Quality ........................................................................................................... 20 
11 ETHICAL CONSIDERATIONS ...............................................................................................................21 

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11.1 Role of the Sponsor ................................................................................................ 21 
11.2 Information for Subjects and Right to Withdraw .................................................. 21 
12 DATA MANGEMENT AND CONSERVATION .......................................................................................21 
12.1 Observation Notebook ........................................................................................... 21 
12.2 12.2 Data Management ......................................................................................... 21 
12.3 Regulatory Compliance with GDPR ........................................................................ 22 
12.4 Archiving ................................................................................................................ 22 
13 PUBLICATION RULES ..........................................................................................................................22 
14 BIBLIOGRAPHIC REFERENCES ............................................................................................................22 
 
 
 
 

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1. GENERAL INFORMATION 
1.1.1 
Investigators  
Pr Shahram ATTARIAN 
Dr Claude CANCES 
Pr Brigitte CHABROL 
Pr Isabelle DESGUERRE 
Dr Caroline ESPIL-TARIS 
Dr Cyril GITEUX 
Dr Arnaud ISAPOF 
P Vincent LAUGEL 
Pr Yann PEEON 
Dr Emmanuelle SALORT-CAMPANA 
Dr Guilhem SOLE 
 
The investigators also form the study's scientific committee.  
1.2 
Associate scientists 
Laure HUOT, PH Santé Publique 
Anaïs LE JEANNIC, Chargée de recherche, URC-Eco de l’AP-HP 
Bénédicte SABIN and Solange ROUMANGOUS, Cheffes de projet, Cellule Opérationnelle BNDMR, 
Direction des Services Numériques (DSN) de l’AP-HP 
1.3 
Epidemiologist & Biostatistician 
URC Eco team under the responsibility of Pr Durand-Zaleski. 
1.4 
Financing 
The funding body is the Pfizer laboratory, and funding is the subject of a contract between Pfizer and 
AP-HP. 
 

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2 
SCIENTIFIC RATIONALE 
2.1 
Current state of knowledge 
Background to the study 
Duchenne muscular dystrophy (DMD) is a chronic neuromuscular disease affecting around 150 to 200 
newborns per year, characterized by progressive muscle atrophy and weakness caused by complete 
dystrophin deficiency. DMD has a severe phenotype, with death most often occurring in the 3rd 
decade.  
Muscular weakness begins with damage to the lower limbs, then the back and upper limbs, leading to 
progressive loss of the ability to walk, which occurs on average in early adolescence. As the disease 
progresses, damage to the respiratory, cardiac and digestive muscles leads to other disorders affecting 
the patient's life. Other disturbances may also be observed, such as emotional disorders, learning 
difficulties or episodes of anxiety and depression. Relatives (or informal caregivers) are therefore 
heavily involved in the day-to-day management of the consequences of the pathology.  
Patients are currently cared for within the Filnemus rare disease network, via reference and 
competence centers. Treatment (based on daily corticosteroids, cardioprotective drugs, regular 
physiotherapy, respiratory physiotherapy and spinal arthrodesis1) has improved life expectancy over 
time. Over 90% of children with DMD now reach adulthood, and some now live beyond the age of 401. 
New treatments, such as gene therapies, are currently in clinical development for this disease, with a 
major potential impact on current management and the organization of care. 
Very little data is available on the use of care and associated costs for DMD patients, particularly in the 
context of care in France. The AP-HP has proposed a protocol to study the care pathway of these 
patients, using data from the Banque nationale des données maladies rares (BNDMR) and the Système 
national des données de santé (SNDS). It will be used to describe patient characteristics, healthcare 
utilization and associated costs. With regard to the latter, only direct costs eligible for reimbursement 
(Affection Longue Durée 100%) can be analyzed. 
However, other resources are consumed by DMD patients, notably for their medical care, and are not 
eligible for reimbursement. What's more, the patient's level of dependence may mean that he or she 
has to make adjustments or incur other expenses outside the health sphere, but linked to the 
pathology. Finally, informal help can be very important. All these family costs need to be estimated. 
Summary of the literature on non-medical direct and indirect costs 
A total of eight scientific publications studying the costs of informal care and/or indirect costs related 
to Duchenne Muscular Dystrophy (DMD) were identified following a keyword search in the PubMed 
database (see Table 1). These were cross-sectional studies published between 2013 and 2022, based 
on the use of questionnaires specifically developed for collecting relevant resources. The 
questionnaires were self-administered, except for the study by Labisa et al. [1], which conducted face-
to-face interviews. 
Five studies estimated the overall cost of the disease from a societal perspective; they included direct 
medical and non-medical costs, including informal care (except for Larkindale et al.) [2], and indirect 
costs related to the loss of productivity of the main caregiver and/or the patient. One study estimated 
only the direct medical and non-medical costs borne by the family (Flores et al.); and one study focused 
solely on indirect costs, estimated based on the loss of productivity of the main caregiver in a 
population of minor patients [3]. 
Despite differences in populations and methods of collection and valuation, the study results were 
consistent. Overall, the most significant expense categories included: costs related to disability aids 
and home/vehicle modifications; informal care costs; and indirect costs. These costs increased with 
the severity of the disease, particularly regarding the patients' ambulatory status. 
Regarding studies that estimated informal care costs, the valuation of hours provided by caregivers 
was conducted using the replacement cost method ("proxy good method"; [1,4,5]) or the human 
capital approach [6,7]. Informal care costs represented a substantial portion of the total cost of the 
disease: 18% to 31% for Landfeldt et al.; 27% for Schreiber Katz et al.; and 42% to 50% depending on 
the patients' ambulatory status for Labisa et al. 
 
1 Protocole de diagnostic et de soins (PNDS) – Dystrophie musculaire de Duchenne – HAS – novembre 2019 

10 
 
Cavazza et al. based their estimation on a population from 8 European countries between 2011 and 
2013, where 70% of the affected patients were under 17 years old. The authors estimated that non-
medical direct costs represented between 64% and 89% of the estimated total cost, depending on the 
country, with informal care costs being the main contributor (7 out of 8 countries). In France, non-
medical direct costs accounted for 66% of the total cost, and informal care costs for 57% of the total 
cost (€33,400 and €58,700, respectively, in 2012), but only 2 patients were involved. Differences 
between the studied countries were attributed to each society's choices, particularly regarding support 
for families. 
Schreiber-Katz et al. reported that 89% of the surveyed patients required a full-time or part-time 
caregiver (the study population included patients aged 1 to 42 years, with the number of patients over 
18 not specified in the publication). The study by Flores et al. surveyed caregivers of minor patients, 
52% of whom were under 7 years old [8]. Overall, 70% of caregivers reported not using professional 
help. The cost of informal care was not valued. 
Teoh et al. reported a high cost related to formal care, accounting for 26% of the total cost, in contrast 
to a low share of informal care costs; however, this valuation did not include the main caregiver, but 
rather other sources of help (friends, neighbors...). 
The valuation of indirect costs was carried out in 4 studies using the human capital approach based on 
the Work Productivity and Activity Impairment Questionnaire or WPAI [1,4,6,7]. Schreiber-Katz et al. 
estimated indirect costs based on the salary of the respondent; and Larkindale et al. modeled the loss 
of family income related to the pathology. 
Only one study accounted for the loss of productivity of both caregivers and adult patients [5], while 
others estimated only that of caregivers [1-3,6]. Cavazza et al. analyzed only the loss of productivity of 
adult patients, but the number of respondents was too low for a meaningful estimate. 
Larkindale et al. estimated an annual income loss for families of $15,481 (2010 value), accounting for 
30% of the total cost. In the study by Landfeldt et al. conducted between 2012 and 2013, indirect costs 
were the largest component of the total cost of the disease in Germany, Italy, and the USA ($20,770, 
$18,220, and $21,550, respectively); this item accounted for 26% to 43% of the total cost, depending 
on the country. For Labisa et al., indirect costs represented 21% and 20% of the total cost based on 
patients' ambulatory status, respectively. 
In the study by Schreiber et al., indirect costs were estimated at €21,463 for adult patients and €7,220 
for caregivers, totaling €28,683, representing 36% of the estimated total cost (2013 value). In the study 
by Teoh et al., indirect costs accounted for only 6% of the total cost, but this was related to the 
valuation method that did not consider changes in working conditions (reduction or cessation of 
professional activity) related to the patient's illness. However, the surveyed parents reported having 
reduced their working hours in 29% of cases and completely stopped working in 21%. 
Soelaeman et al. studied the productivity loss of mothers of minor patients with Duchenne's disease 
(n=96) compared to a control panel of mothers of healthy children (ratio 1:4). Indirect costs were 
valued using the opportunity cost approach. The authors estimated an average salary loss of $8,816 
per year, which increased with the child's loss of mobility (-$41 when the child is ambulatory; -$13,828 
up to 3 years after loss of mobility; -$23,995 beyond 4 years of mobility loss). 
These data demonstrate that the cost of managing Duchenne's disease must consider not only direct 
medical costs but also non-medical costs, including informal care, and indirect costs, which represent 
a significant portion from a societal perspective. There is very little information available in France, 
making this assessment relevant in the context of developing new treatments that could substantially 
alter the nature of these costs. 
In this study, we will thus focus on estimating all relevant expense categories from a societal 
perspective, considering both minor and adult patients who may have professional activities. The 
medico-social aspect and the collection of aids and benefits received will also provide insight into the 
nature of support available for French families. 
The project's aim is to meet the expectations of HAS and CEPS by providing medico-economic data for 
the evaluation of the gene therapy product currently being developed by Pfizer (fordadistrogene 
movaparvovec - PF-06939926). Clinical development began with a phase 1b (NCT03362502); a phase 
3 is currently recruiting for ambulatory patients aged 4 to 7 years (NCT04281485) as well as a phase 2 
(NCT05429372) for patients aged ≥2 to <4 years. 
2.2 
Hypothesis  

11 
 
In addition to the EPARDYS study of direct reimbursed medical costs, the aim of this study will be to 
carry out a specific analysis that takes into account the other costs associated with the management 
of the pathology, i.e. the direct costs of the healthcare sphere2 not eligible for reimbursement, the 
medico-social sphere and the domestic sphere, as well as the indirect costs associated with lost 
productivity. 
2.3 
Target population 
This study will focus on DMD patients of all ages included in the BNDMR. This national database gathers 
data on all patients treated in rare disease expert centers accredited by the DGOS, and shows a gross 
number of 2,028 DMD patients as of March 1, 2022.  
A sample of these patients (enabling the composition of the patient/caregiver couples concerned by 
this study) will be drawn up by stratified randomization. Participant selection criteria are detailed in 
chapter 5. 
2.4 
Ratio benefits/risks 
This is a descriptive study, the aim of which is to analyze the costs borne by patients and their 
caregivers, as well as the costs associated with informal help, in the context of DMD management in 
France. No individual benefit is expected from participation in this study, which will contribute to 
improving knowledge of the various expenses associated with the disease.  
The only constraint for participants will be to complete a questionnaire, which will be sent to them 
beforehand and then completed during a 30-minute interview with a clinical research associate, in 
order to gather the information required for the proposed cost analysis.  
All in all, the benefit/risk balance for the privacy of patients and families is therefore acceptable. 

12 
 
Table 1: Publications evaluating the costs of Duchenne Muscular Dystrophy, including informal assistance and indirect costs. 
 
Référence 
Pays 
Nombre de paires 
patients/aidants  
Coût total moyen 
annuel 
Coûts directs 
 
Coûts indirects 
 
Non médicaux 
Dont aide informelle 
Perte de productivité 
aidants 
Perte de 
productivité 
patients 
Larkindale et al. 
2013 
USA 
N=131 
 50 952 $  
12 939 $ 
Non 
Perte de revenu 
annuelle = 15 481$ 
NA 
Landfeldt et al.  
2014 
Allemagne, Italie, 
Royaume-Uni, USA 
N=770 
 Entre 42 140 $ (Italie) 
et 75 820 $ (USA)  
Entre 17 750 $ (Italie) et 
41 110 $ (Royaume-Uni) 
Entre 13 160 $ (Italie) et 
18 530 $ (Allemagne) 
Entre 18 220 $ (Italie) et 
21 550 $ (USA) 
NA 
Schreiber-Katz et al. 
2014 
Allemagne 
N=248 
 78 913 €  
30 884 € 
21 279 € 
7 220  € 
21 463 € 
Cavazza et al. 
2016 
Bulgarie, France, 
Allemagne, Hongrie, 
Italie, Espagne, Suède, 
Royaume-Uni 
N=268/154  
Entre 7 657 € 
(Hongrie) et 58 704 € 
(France) 
Entre 6 0 94 € (Bulgarie) 
et 38 907 € (France) 
Entre 5 087 € (Bulgarie) 
et 33 417 € (France) 
NA 
295 € (Italie)  
495 € (Espagne) 
956 € (Bulgarie)* 
Teoh et al.  
2016 
Australie 
N=104 
46 669 $A 
33 557 $A 
4 151 $A 
3 066 $A 
NA 
Flores et al.  
2020 
Espagne 
N=36 
NA 
Non valorisés 
Non valorisés 
Non valorisés  
NA 
Soelaeman et al. 
2021 
USA 
N=96 
NA 
NA 
NA 
Perte de revenu 
annuelle = 8 816 $  
NA 
Labisa et al.  
2022 
Portugal 
N=46 
Patients ambulatoires 
= 48 991 € 
Patients non 
ambulatoires =  
19 993 € 
Patients ambulatoires = 
11 890 € 
Patients non 
ambulatoires =  
29 717 €  
Patients ambulatoires = 
9 996 € 
Patients non 
ambulatoires =  
20 772 €  
Patients ambulatoires =  
4 395 € 
Patients non 
ambulatoires =  
10 211 €  
NA 
NA = Non applicable 
* Seuls pays pour lesquels une valorisation a pu être réalisée 
 
 

13 
 
2.5 
Expected benefits 
The data controller is a public entity of the AP-HP in collaboration with the national heads of the 
neuromuscular disease reference centers. The aim of the study is to identify patients' healthcare 
consumption, document their healthcare expenditure: non-reimbursable expenses, medico-social 
expenses and loss of productivity, and inform the medical community, associations and authorities 
about the factors that explain the healthcare expenditure borne by patients and carers. 
The expectations for this project are as follows: 
- 
for patients and their carers: understand the consumption of patients and carers in relation to 
the disease, identify the most significant expenditure items, contribute to the development of 
the HAS ALD guides.  
- 
for the HAS and Comité Economique des Produits de Santé (CEPS): identify and quantify 
expenses associated with the disease in the absence of specific treatment. 
 
The aim of the project is to meet the expectations of HAS and CEPS by providing medico-economic 
data for the evaluation of the gene therapy product currently under development. 
Knowledge of disease-related consumption (excluding direct medical costs) as a function of patient 
characteristics will complement the collection of direct medical costs in the EPARDYS study. It will thus 
provide a complete picture of Duchenne-related expenses borne by patients and caregivers. 
3 
OBJECTIVES  
3.1 
Main objective 
Describe the consumption of resources linked to the care of DMD patients other than those eligible 
for reimbursement, i.e. in terms of: direct medical costs not eligible for reimbursement and medico-
social costs, direct non-medical costs and indirect costs. 
3.2 
Secondary objectives 
- Estimate the different types of costs identified for pathology management;  
- Estimate costs as a function of disease severity; 
- Describe the cost drivers identified. 
 
4 
RESEARCH DESIGN 
4.1 
Study type 
This is a national, cross-sectional, non-comparative, sample-based cost analysis survey.  
 
Insofar as this study does not study the pathology itself, nor intervene in its management, it 
corresponds to research not involving the human person. 
4.2 
Assessment criteria 
4.2.1 
Main citerion 
Average annualized cost per patient/family.   
Table 2 below shows the typology of all the costs considered in this study. 
 
 
 
 

14 
 
Table 2: typology of all study costs. 
 
 
 
Postes de coûts recueillis dans le cadre de l’étude 
‘CouDuMyo’ 
Coûts directs 
Coûts médicaux non 
remboursables 
▪ 
Médicaments en vente libre 
▪ 
Autres produits de santé en vente libre (ex : 
petits 
dispositifs 
médicaux, 
compléments 
nutritionnels oraux…) 
▪ 
Equipements techniques de compensation du 
handicap  
▪ 
Consultations de professionnels paramédicaux 
non pris en charge par l’Assurance Maladie (ex : 
ergothérapeute ou psychologue en ville…)  
Coûts liés à la sphère 
médico-sociale 
▪ 
Auxiliaire de vie, éducateurs spécialisés, 
assistants sociaux, accompagnement à la 
scolarité  
▪ 
Hébergement en établissement médico-social 
▪ 
Consultations dans des services médico-sociaux  
Coûts non-médicaux 
▪ 
Adaptation du domicile, adaptation du véhicule 
▪ 
Transports non médicaux  
▪ 
Aide informelle pour les soins (aidant familial, 
bénévole, autre) 
▪ 
Aide informelle pour les activités quotidiennes 
▪ 
Recours à une aide hors secteur sanitaire pour 
les actes de la vie quotidienne (ménagère, 
auxiliaire de vie, etc.) 
Coûts indirects 
Coûts indirects pour le 
patient  
▪ 
Pertes de productivité (adulte) 
▪ 
Perte de jours d’école (enfant) 
Coûts indirects pour 
les aidants 
Pertes de temps dédié : 
▪ 
à 
une 
activité 
professionnelle 
(aidant 
travaillant),  
▪ 
ou de loisir (aidant non travaillant),  
hors temps consacré aux soins2. 
Aides financières 
Coûts 
liés 
aux 
allocations/aides 
financières 
Dispositifs permettant de financer (hors budget de 
l’Assurance Maladie dans le cadre de l’ALD) tout ou 
partie 
des 
coûts 
identifiés 
(ex : 
allocation 
compensatrice 
pour 
personne 
tierce 
(ACTP), 
allocation adultes handicapés (AAH), allocation 
d’éducation 
de 
l’enfant 
handicapé 
(AEEH), 
prestations de compensation du handicap (PCH)…) 
 
4.2.2 
Secondary criteria 
- Average annualized cost by type of cost and by patient/family ; 
- Average annualized cost per patient/family for each stage of disease severity; 
- Cost drivers identified. 
 
2 Pour ne pas comptabiliser double avec le coût des soins médicaux 

15 
 
5 
ELIGIBILITY CRITERIA 
5.1 
Inclusion criteria 
- Patients of any age with DMD diagnosed more than 6 months ago; 
- Patients included in the BNDMR (ORPHA code: 98896), who do not object to the collection of their 
data (see BNDMR 'Agreement to be contacted for a protocol') and who are alive at the time they are 
asked to participate in the study. 
Identified patients are those present in the BNDMR with an up-to-date address at their follow-up 
center.  
5.2 
Non inclusion criteria 
- Patient participating in an interventional clinical study with modification of usual management (see 
BNDMR 'Patient participating in a protocol');  
- Patient and/or primary caregiver objecting to the use of his/her data;  
- Patient and/or primary caregiver whose understanding of the French language does not allow them 
to complete the questionnaire. 
5.3 
Patients identification in BNDMR 
The CO BNDMR will provide the URC ECO with a secure file listing eligible patients identified by a 
specific identifier (ID_étude), as well as the variables of interest for sampling and the rare disease site 
considered.  
The patient identification period runs from the start date of inclusions in the BNDMR (2017) to January 
1, 2023. 
5.4 
Recruitment methods and feasibility 
A random sample of patients will be drawn upon receipt of the CO BNDMR file by the URC ECO. The 
URC ECO will contact the sampled centers to inform them of the study project, the number of eligible 
patients in their center and their study ID, and will provide them with the associated documents 
(protocol, information letter to be given to the patient). Follow-up centers will be able to return to CO 
BNDMR to obtain the BaMaRa ID of sampled patients, in order to retrieve their contact in the 
application. Once they have been properly identified by the center, patients and/or their primary 
caregivers will be contacted by the CRA of their follow-up center, via an information letter explaining 
the purpose and modalities of the study. The questionnaire will be sent to them in the same letter, so 
that they can familiarize themselves with it and to give them time to gather the necessary information 
(expenses, etc.). The main caregiver will then be identified during the call following this letter. 
 
With the BNDMR reporting a preliminary enrolment of around 2,028 DMD patients as of March 1, 2022 
[9], the feasibility of the number of subjects required for this study will be ensured. 
6 
GENERALE ORGANISATION 
6.1 
Study calendar 
Inclusion period: 6 months (01/2024 - 06/2024) 
Duration of participation for each patient/caregiver: completion of questionnaire (60 minutes max) 
Total study duration: 6 months (01/2024 - 06/2024) 
Anticipated start of inclusion: 01/2024 
6.2 
Schematic diagram 

16 
 
 
6.3 
Conduct of the study 
6.3.1 
Inclusion  
Patients likely to participate in the study will be identified following the sampling procedure. Each 
patient/caregiver pair will first be contacted and informed by letter of the existence of the survey. Any 
explanations required for a proper understanding of the study will be given to the patient and/or his 
or her main carer in an information letter explaining the objectives and progress of the protocol.  
 
If the patient and his/her primary caregiver do not object to their participation in the study within 30 
days of receiving the information letter, they will be considered as included in the study. 
6.3.2 
Questionnaire answering 
The questions are taken from published questionnaires, and a validation of the questionnaire's 
comprehensibility and acceptability will be carried out on at least 2 child/caregiver and 2 
adult/caregiver patients before the information letters are sent out [10]. 
 
The standardized questionnaire (see appendix) will be sent to patient/caregiver pairs with the 
information letter. This will enable participants to gather the information they need to answer the 
questionnaire. 
A clinical research associate from the center which usually cares for the DMD patient or, failing that, 
from the URC Eco, will then contact the patient and/or his/her main carer by telephone. The interview, 
lasting a maximum of half an hour, will be based on the questionnaire and will ensure that the 
participant has understood the questions and that all the required data have been collected. 
Variables intended to ensure representativeness or to enable sample adjustment will be collected at 
inclusion, including commune of residence (used only for adjustment), as well as:  
- Patient characteristics: gender, month and year of birth, ambulatory or non-ambulatory status; 
- Characteristics of the main caregiver: age, sex, relationship to the patient (degree of kinship, partner 
or other non-family relationship), family structure (couple, characteristics of other children, etc.).  
 
Variables for cost analysis will also be collected (see chapter 7 + appended questionnaire). 
6.4 
Temporary or permanent shutdown rules 
Subjects may object to their participation and ask to leave the study during the interview, for whatever 
reason. In the event of premature exit (questionnaire not fully completed), and if the subject does not 
object, the data collected up to the point of objection will be analyzed. 
 
0
2
4
6
8
10
12
Valorisation et analyses des données
Contrôles qualité/ queries
Contact téléphonique des familles et remplissage du…
Constitution de la base de données sur REDCap
Envoi ou remise des lettres aux familles
Liste des familles à contacter par Centre
Echantillonnage et extraction préalable des informations…
Mois
Déroulé de l'étude

17 
 
7 
COST EVALUATION  
7.1 
Perspective  
The societal perspective (integrating amounts financed beyond the perspective of compulsory health 
insurance, i.e. patient out-of-pocket expenses, non-reimbursed costs and lost productivity) will be 
retained.  
7.2 
Timeframe 
The time horizon will be one year (retrospective) of patient care.  
7.3 
Identification et quantification des ressources consommées 
The resources consumed will be identified and quantified: 
1. Non-reimbursable health resources 
− 
Name and weekly quantity of OTC drugs consumed in a representative month; 
− 
Name, type and quantity of other OTC products (e.g. small medical devices, oral 
nutritional supplements, etc.) purchased in a representative month; 
− 
Number and type of paramedical consultations carried out in a representative month; 
− 
Number and type of non-reimbursable technical equipment for disability compensation 
purchased since DMD diagnosis. 
2. Ressources de la sphère médico-sociale 
Medico-social costs include those incurred by the medico-social sector. This includes social and 
medico-social establishments and services (ESMS) and social action assistance.  
There are two main types of establishment:  
− 
Establishments and services for disabled adults; 
− 
Establishments and services for disabled children and adolescents.  
The following variables will be collected: 
− 
Frequency, duration and type of stay in a social and medico-social institution in the last 
month; 
− 
Number of visits to a medical-social service in the last month. 
3. Support for schooling and Professional life 
− 
Schooling programs; 
− 
Socio-professional support services. 
The following variables will be collected: 
− 
Number and type of support staff (carers, special educators, social workers, etc.) in the 
last month; 
− 
Type of schooling, specific assistance and how many hours, if not in which structure, and 
what additional costs in the last month; 
− 
Working hours, support arrangements and how many hours over the past month. 
4. Other non-medical resources 
− 
Recours à une aide hors secteur sanitaire pour les actes de la vie quotidienne 
(ménagère, auxiliaire de vie, etc.), type et nombre d’heures hebdomadaires ; 
− 
Aménagements réalisés au domicile, depuis le diagnostic ; 
− 
Adaptation du(des) véhicule(s) et/ou acquisition d’un véhicule aménagé, depuis le 
diagnostic 
− 
Modalité des transports non médicaux, fréquence et kilométrage hebdomadaire. 
 
5. Informal help 

18 
 
− 
Number of caregivers over 18 years old in total, degree of kinship; 
− 
Number of hours spent with the patient providing support for care, daily living activities, 
and instrumental activities of daily living. 
6. Productivity loss 
− 
For the primary caregiver: Changes in situation, absenteeism, and presenteeism related 
to DMD; 
− 
For the patient: Absenteeism and presenteeism (school or work) related to DMD. 
7. Help and allocations 
The allowances include disability compensation (PCH), compensatory allowance for a third party 
(ACTP), child disability education allowance (AEEH) and its supplements, adult disability allowance 
(AAH), 
and 
the 
increase 
for 
independent 
living 
(MVA). 
The following variables will be collected: 
− 
Allowances received, type, and total amount; 
− 
Destination (compensation for non-medical costs, loss of productivity, etc.): not 
requested in the questionnaire; this item will be subject to a post hoc analysis 
7.4 
Resource valorization 
Direct medical and non-medical costs will be annualized, assuming consistent/representative resource 
use over the measurement period (months). 
 
1. Non-reimbursable healthcare resources 
− 
Weekly quantity valued at the average sale price; 
− 
Quantity of other over-the-counter products (e.g., medical devices, oral nutritional 
supplements (ONS), etc.) valued at the average sale price; 
− 
Number of hours of paramedical care valued at the corresponding wage/convention 
rate (if available); 
− 
Quantity of technical equipment for disability compensation valued at the average sale 
price. 
 
2. Medico-social resources 
− 
Use of medico-social support: number of hours valued at the service rate, or, if 
unavailable, at the average hourly wage of equivalent professionals in France; 
− 
Total costs of stays and consultations in medico-social facilities related to the specified 
medical condition within the medico-social sector. 
3. Other non-medical resources 
− 
Home adaptations: family expenses (lifetime); 
− 
Modification of vehicles and/or purchase of an adapted vehicle: family expenses 
(lifetime); 
− 
Non-medical transportation: weekly mileage valued according to the mileage 
reimbursement rate for personal vehicles. 
4. Informal help   
Care hours provided by caregivers valued at the cost of a replacement salary, according to the Proxy 
Good Method (PGM), and hours for activities of daily living valued at the average salary of a 
housekeeper. 
5. Productivity loss 
Lost work hours related to the DMD (Degenerative Motor Disorder) that do not pertain to caregiving, 
valued at the average hourly wage in France. 
6. Assistance and allocations 

19 
 
Total monthly benefits related to DMD (Degenerative Motor Disorder) received by the patient and/or 
the family in the medico-social sphere. 
 
8 
STATISTICAL ASPECTS 
8.1 
Number of necessary subjects 
The study published on the costs of DMD in Portugal [1] was based on a sample of 46 patient/caregiver 
pairs without justification for the sample size. The international study collected data from 100-200 
patients per country [6]. In France, as of March 1, 2022, the BMDMR (National Registry of Patients with 
Rare Diseases) reported 2,028 DMD patients. While it is not possible to rely on the French cost data 
collected by Cavazza et al. 2016, which is based on only two patients [4], we can examine other 
countries where the values are not aberrant and where there is generally a coefficient of variability 
(sd/m) of 1. The sample size for a precision of 15% is thus 171 patient/caregiver pairs according to the 
recommendations of Johnston et al. 2019 [11]. The chosen method of telephone interviews assumes 
that there will be no non-responses, and since this is a cross-sectional study without randomization, 
interviews will continue until this number is reached. Stratification in terms of sex, age, and location 
will be performed, and then families will be randomly selected within each stratum to obtain a 
representative sample of the BNDMR population. The a priori number of strata is 16 (2 (sex) x 4 (age 
groups) x 2 (annual follow-up at center vs. no regular follow-up)). 
8.2 
Population  
All the participants surveyed will constitute the analysis population. 
8.3 
Statistical methods 
Cost data will be described in terms of means, variances, and confidence intervals. The normality or 
non-normality of the cost distributions will be checked. Costs (direct and indirect) will be described 
among patients living as of December 31, 2023. Analyses will also be conducted by level of mobility. 
8.4 
Method for Handling Missing Data 
It is not planned to compare non-respondents with respondents but to solicit new patient/caregiver 
pairs while maintaining representativeness with respect to the BNDMR population. The number of 
missing data will be limited by constructing short and explicit questionnaires and through the direct 
interview method conducted by a clinical research associate. In the case of missing data during the 
completion of the survey, or if the interview is interrupted, follow-ups may be organized if the family 
has given their consent. 
8.5 
Exclusion of Data in Statistical Analysis. Management of Changes Made to the Analysis Plan 
A detailed statistical analysis plan will be drafted before the database is frozen. It will take into account 
any modifications to the protocol or any unexpected events that occur during the study and impact 
the analyses presented above. Planned analyses may be supplemented in accordance with the study 
objectives. Any subsequent changes to the statistical analysis plan must be justified and will result in a 
new version of the document. These deviations from the analysis plan will be reported in the final 
study report. All documents will be kept in the study file. 
8.6 
Person Responsible for the Analyses 
Data analysis will be conducted by a statistician from the URC Eco under the supervision of Professor 
Durand-Zaleski. 
 

20 
 
9 
RIGHTS OF ACCESS TO DATA AND SOURCE DOCUMENTS 
9.1 
Collected Data 
In the first phase (Phase 1), the sampling variables will be communicated by the BNDMR (study 
pseudonym, age, sex, place of residence, care site, age at diagnosis). In the second phase (Phase 2), 
the data necessary for this study will be collected through questionnaires directly from the participants 
and will be entered by a clinical research associate into an electronic data collection notebook (eCRF) 
developed using the CleanWeb™ solution (Telemedicine Technologies). 
As this is a cross-sectional study, the interview serves as inclusion. A participant who refuses the 
interview will therefore not be considered included. Participants may request to withdraw from the 
study during the interview, and the questionnaire will then be incomplete: if the subject does not 
oppose it, the data collected up to that point will be retained and analyzed. 
9.2 
Source Documents 
Source documents are defined as any original document or object that proves the existence or 
accuracy of a data point or fact recorded during the clinical study. This will include the questionnaires 
completed by the patient/caregiver pairs included in the study. They will be kept for the duration of 
the study and until the completion of data analysis, and then archived for 5 years from the date of 
questionnaire completion. 
9.3 
Data Confidentiality 
Individuals with direct access to the data will take all necessary precautions to ensure the 
confidentiality of information related to participants, particularly regarding their identity and the 
results obtained. 
These individuals, like the investigators themselves, are subject to professional secrecy (as defined by 
Articles 226-13 and 226-14 of the Penal Code). During the research, the data collected on participants 
and transmitted to the sponsor by the investigators (or any other specialized participants) will be 
coded. 
Under no circumstances should the names of the individuals concerned or their addresses be clearly 
displayed. Only the first letter of the subject's last name and the first letter of their first name will be 
recorded, accompanied by a coded number specific to the study indicating the order of inclusion of 
the subjects. 
 
 
10 CONTROL AND QUALITY ASSURANCE 
10.1 Qualification of Participants 
The coordinating investigator, the qualified person, or the scientific officer ensures that the research 
participants are qualified for the tasks assigned to them. 
10.2 Data Quality 
A review of the data at the end of the interview by the Clinical Research Associate (CRA) and the patient 
will allow for checking their consistency and ensuring that no omissions have occurred. A data 
management plan will be established to determine consistency checks. Descriptive analyses will be 
conducted on available data, assuming that missing data are non-informative, and the counts of 
missing values will be described for each variable, if applicable. 
 

21 
 
11 ETHICAL CONSIDERATIONS 
11.1 Role of the Sponsor 
The Assistance Publique - Hôpitaux de Paris is the sponsor of this research, and by delegation, the 
Delegation for Clinical Research and Innovation (DRCI) carries out its missions in accordance with 
Article L.1121-1 of the Public Health Code. The Assistance Publique - Hôpitaux de Paris reserves the 
right to interrupt the research at any time for administrative reasons. 
11.2 Information for Subjects and Right to Withdraw 
In accordance with Article L1121-1-1 of the Public Health Code, no non-interventional research may 
be conducted on a person who has opposed it after being provided with the information required by 
Article L1122-1 of the same code. Patients and their caregivers will be fully and fairly informed, in terms 
understandable to the general public, about the objectives, their rights to oppose their participation 
in the study, and the possibility of withdrawing at any time. All this information is included in an 
information form provided to the patient and their caregiver. 
 
12 DATA MANGEMENT AND CONSERVATION  
12.1 Observation Notebook 
The observation notebook will only include the data necessary for analysis for publication. Other 
patient-related data necessary for follow-up outside the study will be compiled in their medical file. 
An electronic observation notebook (eCRF) will be used for data collection. 
12.2 12.2 Data Management 
The responsibility for processing the project is ensured by AP-HP (Direction des Services Numériques 
(DSN) for Phase 1 and Direction de la Recherche Clinique et de l’Innovation (DRCI) for Phase 2). The 
project team within the DSN is represented by the following members of the BNDMR operational unit: 
• 
Dr. Anne-Sophie JANNOT, Medical Director 
• 
Nabila ELAROUCI, Chief Data Officer 
• 
Bénédicte SABIN, Project Manager 
The party responsible for implementing the processing is the Direction de la Recherche Clinique et de 
l’Innovation (DRCI) within AP-HP, represented by Professor Isabelle Durand-Zaleski. The Data 
Protection Officer (DPO) is Ms. Donatienne Blin, within the DSI of AP-HP, 33 bld Picpus 75012 PARIS, 
email: donatienne.blin@aphp.fr, phone: 0683988971. 
The data collected from the questionnaires administered to patients will not be matched with the 
BNDMR data; the two databases will remain distinct from the beginning to the end of the study. 
A data collection notebook will be created under CleanWeb™ for entering data from the 
questionnaires administered to patients. CleanWeb™ is a secure, controlled web-access solution for 
creating structured forms (eCRF) for manual information entry (Electronic Data Capture - EDC); this 
solution, complementary to EDS, is used by AP-HP for electronic management of clinical studies. The 
eCRF will be developed under the responsibility of a data manager. Only authorized individuals may 
access the eCRF through a secure login (username and password). 
The data collected will be entered by a CRA into the eCRF at the time of the interview. The eCRF will 
be pseudonymized with a number for each family. Only the CRA at each center will have access to the 
name and phone number required for the interview, as well as the number corresponding to each 
family. The correspondence table for the center, populated during the data collection period, will be 
deleted as soon as the database is frozen. 

22 
 
These data will be retained for the duration of the study and until the end of data analysis. In 
accordance with MR004 from CNIL, data must be retained for a maximum of 2 years after the last 
publication or until the final report is signed before archiving, according to the regulations in force. 
12.3 Regulatory Compliance with GDPR 
This study falls within the scope of the "Reference Methodology" (MR004) in application of the 
provisions of Article 54, paragraph 5 of Law No. 78-17 of January 6, 1978, as amended, relating to data 
processing, files, and freedoms. This amendment was approved by decision on January 5, 2006, and 
modified on July 21, 2016. This study will be registered in the public catalog of studies within the HDH 
and on the AP-HP registry. Finally, a PIA will be conducted before implementation. 
12.4 Archiving 
The following documents will be archived under the study name under the responsibility of the 
coordinating investigator and associated investigators at each center for 15 years: 
• 
Protocol and appendices, any amendments, 
• 
Individual data (authenticated copies of raw data), 
• 
Monitoring documents and correspondence related to the research. 
The sponsor is also responsible for organizing the retention of statistical analyses and the final study 
report during the regulatory archiving period. No transfer or destruction may be carried out without 
the sponsor's agreement. At the end of the 15 years, the sponsor will be consulted regarding 
destruction. All data, documents, and reports may be subject to audit or inspection. 
 
13 PUBLICATION RULES 
Scientific communications and reports corresponding to this study will be prepared under the 
responsibility of the principal investigator of the study with the agreement of the associated 
investigators. Patients and families will be informed of the results via the BMDMR website. The co-
authors of the report and publications will include the investigators and clinicians involved, in 
proportion to their contribution to the study, as well as the biostatistician and associated researchers. 
 
The publication rules will follow international recommendations (N Engl J Med, 1997; 336:309-315). 
The study will be registered in a publicly accessible clinical trial registry (clinicaltrials.gov) before the 
inclusion of the first patient. 
 
14 BIBLIOGRAPHIC REFERENCES 
 
[1] P. Labisa et al., « Cost of Illness in Patients with Duchenne Muscular Dystrophy in Portugal: The 
COIDUCH Study », PharmacoEconomics - Open, vol. 6, no 2, p. 211‑218, mars 2022, doi: 
10.1007/s41669-021-00303-5. 
[2] J. Larkindale et al., « Cost of illness for neuromuscular diseases in the United States », Muscle 
Nerve, vol. 49, no 3, p. 431‑438, 2014, doi: 10.1002/mus.23942. 
[3] R. H. Soelaeman et al., « Labor market participation and productivity costs for female caregivers 
of minor male children with Duchenne and Becker muscular dystrophies », Muscle Nerve, vol. 64, 
no 6, p. 717‑725, déc. 2021, doi: 10.1002/mus.27429. 
[4] M. Cavazza et al., « Social/economic costs and health-related quality of life in patients with 
Duchenne muscular dystrophy in Europe », Eur. J. Health Econ. HEPAC Health Econ. Prev. Care, vol. 
17 Suppl 1, p. 19‑29, avr. 2016, doi: 10.1007/s10198-016-0782-5. 

23 
 
[5] O. Schreiber-Katz et al., « Comparative cost of illness analysis and assessment of health care 
burden of Duchenne and Becker muscular dystrophies in Germany », Orphanet J. Rare Dis., vol. 9, 
p. 210, déc. 2014, doi: 10.1186/s13023-014-0210-9. 
[6] E. Landfeldt et al., « The burden of Duchenne muscular dystrophy: an international, cross-sectional 
study », Neurology, vol. 83, no 6, p. 529‑536, août 2014, doi: 10.1212/WNL.0000000000000669. 
[7] L. J. Teoh, E. A. Geelhoed, K. Bayley, H. Leonard, et N. G. Laing, « Health care utilization and costs 
for children and adults with duchenne muscular dystrophy », Muscle Nerve, vol. 53, no 6, p. 
877‑884, juin 2016, doi: 10.1002/mus.24965. 
[8] D. Flores, M. P. Ribate, M. Montolio, F. J. Ramos, M. Gómez, et C. B. García, « Quantifying the 
economic impact of caregiving for Duchenne muscular dystrophy (DMD) in Spain », Eur. J. Health 
Econ. HEPAC Health Econ. Prev. Care, vol. 21, no 7, p. 1015‑1023, sept. 2020, doi: 10.1007/s10198-
020-01197-6. 
[9] « Nombre de cas par maladie rare dans la BNDMR | Banque Nationale de Données Maladies Rares 
au 1er Mars 2022 », mars 2022. Consulté le: 17 juin 2022. [En ligne]. Disponible sur: 
https://www.bndmr.fr/publications/nombre-de-cas-par-mr/ 
[10] Barral M, Rabier H, Termoz A, Serrier H, Colin C, Haesebaert J, Derex L, Nighoghossian N, Schott 
AM, Viprey M; Stroke69 Study Group. Patients' productivity losses and informal care costs related 
to ischemic stroke: a French population-based study. Eur J Neurol. 2021 Feb;28(2):548-557. doi: 
10.1111/ene.14585. Epub 2020 Nov 6. PMID: 33047452. 
[11] K. M. Johnston, P. Lakzadeh, B. M. K. Donato, et S. M. Szabo, « Methods of sample size calculation 
in descriptive retrospective burden of illness studies », BMC Med. Res. Methodol., vol. 19, no 1, p. 
9, janv. 2019, doi: 10.1186/s12874-018-0657-9.