Clinical trial NCT04177134: French Register of Patients With Spinal Muscular Atrophy
Official title: French Register of Patients With Spinal Muscular Atrophy
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Spinal Muscular Atrophy
Keywords: spinal muscular atrophy
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2019-11-26
Enrollment: 1000
Sex: ALL
Minimum age (years): 0
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 1000 SMA 5q patients of type 1, 2, 3 and 4, followed or diagnosed between September 1, 2016 and August 31, 2024. It is estimated that approximately 50% of patients will be children.

Brief summary: The primary objectives of the study are to obtain clinically meaningful data on survival and outcomes of all the patients with spinal muscular atrophy (SMA) 5q types 1 through 4 (according to international classification), being followed in the reference centers of the disease in France between September 1, 2016 and August 31, 2024. The registry will collect retrospectively and prospectively the longitudinal data of the long-term follow-up for child and adult patients, under real life conditions of current medical practice, in order to document the clinical evolution of patients (survival, motor, respiratory, orthopedic and nutritional), the conditions of use of the treatments, the mortality rates of treated and untreated patients, the tolerance of the treatments, adverse events in order to better define their places in the therapeutic strategy.

Detailed description: As secondary objectives, the study aims:

* to estimate the frequencies of patients with SMA 5q types 1 through 4 who have being treated in the reference centers between September 1 2016 and August 31 2024;
* to describe overall demographic, familial, clinical, biological, and genetic characteristics of SMA 5q patients treated in all regions of France, by the type of SMA (type 1,2,3, and 4);
* to study the impact of proactive and symptomatic medical interventions (bracing, IPPB devices) and medications (vaccinations, anti-infectious, digestive, nutritional supplements) in the evolution of patients;
* to study the long-term evolution (survival, motor and respiratory functions, spinal shape, growth and nutritional function) of SMA 5q in treated and untreated populations, by new available therapies, throughout the register;
* to study mortality rate of SMA 5q in treated and untreated populations, by new available therapies, throughout the register;
* to identify and document the different therapeutic strategies by sub-populations and by discontinuation or follow-up of treatments;
* to evaluate prognostic factors of responses to therapies;
* to study the tolerance of treatments by type of treatments, by type of SMA and overall tolerance (including adverse events);
* to estimate the costs of care for SMA 5q patients in different groups (types, ages);
* to provide needful elements to evaluate the health care costs for the disease;
* to study the autonomy and the quality of life of patients depending on different therapeutic strategies;
* to study the impact of the disease on caregivers;
* to facilitate development of scientific research on SMA in the conduct of trials on new therapeutic strategies.

Eligibility criteria: Inclusion Criteria:

* Genetically confirmed SMA 5q patients through 1 to 4 types treated in reference centers in France between September 1, 2016 and August 31, 2024.
* for prospective study: inform consent form signed by patient.
* for retrospective data: information form with non-opposition have been given to participant.
* Covered by a health insurance.

Exclusion Criteria:

* Other type of SMA (not 5q).
* Under guardianship or curatorship.
* Unable to understand french language.

Primary outcomes:
measure: Motor functional development or status
timeFrame: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
measure: Motor function scores
timeFrame: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
measure: Yearly changes of morbi-mortality-vital events
timeFrame: 9 years
measure: Respiratory events
timeFrame: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
measure: Digestive-nutritional events
timeFrame: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
measure: Yearly changes of spinal events
timeFrame: 9 years
Secondary outcomes:
measure: Frequency
timeFrame: through study completion, an average of 9 year
measure: Responses to the treatments (nusinersen and salbutamol)
timeFrame: 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
measure: Spinal status
timeFrame: 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
measure: Impact of spinal surgery techniques in scoliosis
timeFrame: 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
measure: Mortality
timeFrame: at 1, 2 and 5 years
measure: Pulmonary function
timeFrame: at 6 months
measure: Respiratory muscles performance
timeFrame: at 6 months
measure: Pulmonary function
timeFrame: at 6 months
measure: Cardiological parameter
timeFrame: through study completion, an average of 9 year
measure: Cardiological function and anatomy
timeFrame: through study completion, an average of 9 year
measure: Biomarkers
timeFrame: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
measure: Patient's quality of life: PedsQL (Pediatric Quality of Life Inventory) Child report
timeFrame: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
measure: Patient's quality of life: PedsQL parent report concerning child
timeFrame: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
measure: Patient's quality of life: QoL-gNMD for adult
timeFrame: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
measure: Caregiver burden assessement
timeFrame: at baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
measure: Caregiver burden assessement
timeFrame: at baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
Other outcomes:
Locations:
city: Garches
country: France
facility: Unité neuromusculaire, Service de Neurologie et Réanimation Pédiatrique, (French neuromuscular reference network (FILNEMUS), Hôpital Raymond Poincaré,
Study officials:
affiliation: Unité neuromusculaire, Service de Neurologie et Réanimation Pédiatrique, Hôpital Raymond Poincaré, 92380 Garches, FRANCE
name: Susana Quijano-Roy, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: