Clinical trial NCT05954416: FARD (RaDiCo Cohort) (RaDiCo-FARD)
Official title: National Cohort for Evaluation of the Burden of Rare Skin Diseases
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Inherited Epidermolysis Bullosa
Ichthyosis
Ectodermal Dysplasia
Incontinentia Pigmenti
Neurofibromatosis Type 1
Albinism
Pemphigus
Mucous Membrane Pemphigoid
Palmoplantar Keratoderma
Lead sponsor: Institut National de la Santé Et de la Recherche Médicale, France
Sponsor class: OTHER_GOV
First posted: 2023-07-20
Enrollment: 900
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: This study concerns patients affected by one the 9 following rare skin diseases: Inherited epidermolysis bullosa, ichthyosis, ectodermal dysplasia, Incontinentia Pigmenti, neurofibromatosis type 1, albinism, pemphigus, mucous membrane pemphigoid, and palmoplantar keratoderma recruited and followed in a reference/competence centre of the healthcare network of rare dermatologic diseases, FIMARAD.

Brief summary: The goal of this observational study is to conduct a prospective assessment of the individual Burden of 9 rare skin diseases to assess disability in the broadest sense of the term (psychological, social, economic and physical) for patients and/or families.

Two types of indicators will be used to reach this objective :

1. an individual burden score calculated based on a burden questionnaire created specifically, approved and designed to understand the tendency to changes in care and lifestyles. The burden questionnaire should be used by patients and/or their family themselves in self-assessment.
2. a descriptive analysis of all resources (medical and non-medical) used by the family unit to manage the disease.


Eligibility criteria: Inclusion criteria :

* adults or children with a confirmed diagnosis of one of the 9 following rare skin disease: Inherited epidermolysis bullosa, Ichthyosis, Ectodermal dysplasia, Incontinetia Pigmenti, Neurofibromatosis type 1, Albinism, Pemphigus, Mucous membrane pemphigoid or Palmoplantar keratoderma.
* prevalent or incident and followed in one the reference/competence centers of the FIMARAD healthcare network,
* able to understand a survey (for child, survey should be understood by parents),
* having given their signed consent to participate to the cohort RaDiCo-FARD (parents' consent for child).

Non-inclusion criteria :

* Patients, for whom regular care follow-up is not feasible with the FIMARAD healthcare network sites,
* Unconfirmed diagnosis (according to criteria for each disease),
* Patients (and/or parents) not able to understand a survey
* Patients (and/or parents) not having given their signed consent to participate to the study

Primary outcomes:
measure: Individual burden score for each selected rare disease
timeFrame: Through study completion, an average of 5 years
Secondary outcomes:
measure: Description of calculated scores based on widely used survey completed by patients
timeFrame: Through study completion, an average of 5 years
measure: Description of calculated scores based on widely used survey completed by parents
timeFrame: Through study completion, an average of 5 years
measure: Description of variations of quality-of-life scores.
timeFrame: Through study completion, an average of 5 years
measure: Validation of the clinical severity score for disease which have none at the beginning of the study and description of clinical severity score.
timeFrame: Through study completion, an average of 5 years
measure: Descriptive analysis of the socio-economic Burden.
timeFrame: Through study completion, an average of 5 years
measure: Descriptive analysis of the Individual Health Care Cost.
timeFrame: Through study completion, an average of 5 years
measure: Search for association between individual burden score and clinical severity of the disease.
timeFrame: Through study completion, an average of 5 years
Other outcomes:
Locations:
city: Bobigny
country: France
facility: Hôpital Avicenne
city: Bordeaux
country: France
facility: Hôpital des Enfants - Groupe Hospitalier Pellegrin
city: Bordeaux
country: France
facility: Hôpital des Enfants - Groupe Hospitalier Pellegrin
city: Créteil
country: France
facility: Hôpital Henri-Mondor
city: Dijon
country: France
facility: Hôpital François Mitterrand
city: Limoges
country: France
facility: Hôpital Dupuytren
city: Marseille
country: France
facility: Hôpital de la Timone
city: Montpellier
country: France
facility: Hôpital Saint-Eloi
city: Nice
country: France
facility: Hôpital l'Archet
city: Paris
country: France
facility: Hôpital Necker-Enfants Malades
city: Paris
country: France
facility: Hôpital Saint-Louis
city: Reims
country: France
facility: Hôpital Robert-Debré
city: Rouen
country: France
facility: Hôpital Charles Nicolle
city: Toulouse
country: France
facility: Hôpital Larrey
city: Tours
country: France
facility: Hôpital Trousseau
Study officials:
affiliation: INSERM UMR 1163
name: Christine BODEMER
role: PRINCIPAL_INVESTIGATOR
References: