French Register of Patients With Spinal Muscular Atrophy
ConditionSpinal Muscular Atrophy
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age0+
SponsorAssistance Publique - Hôpitaux de Paris
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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.
Disqualifiers
Other type of SMA (not 5q).
Under guardianship or curatorship.
Unable to understand french language.
Trial 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.
Trial design
Design model
Cohort
Time perspective
Other
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
Motor functional development or status
* SMA Type 1 until 2 years of age: change of HINE (Hammersmith Infant Neurological Examination) score * Children: change in Vignos and Brooke scores (level of upper and Lower extremities autonomy) * Adults: change in Walton \& Boston scores (level of upper and Lower extremities autonomy)
Time frame
baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year2
Motor function scores
* For children ≤ 2 years: change of CHOP INTEND (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders) score will be evaluated * For children between 2 and 5 years, ambulatory or not: Change of total MFM-20 (Motor Function Measure 20) score will be evaluated. Change of 3 dimension scores will be evaluated: D1 (start and transfers station), D2 (axial and proximal motricity) and D3 (distal including the upper limb) * For children children \> 6 years and adults, ambulatory or not: Change of total MFM-32 (Motor Function Measure 32) score will be evaluated. Change of 3 dimension scores will be evaluated: D1 (start and transfers station), D2 (axial and proximal motricity) and D3 (distal including the upper limb). * For ambulatory individuals: added 6MWT (6 minutes walking test)
Time frame
baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year3
Yearly changes of morbi-mortality-vital events
Events of hospitalizations, recurrent infections, fractures, complications and death.
Time frame
9 years4
Respiratory events
Onset of respiratory support or change in the mode and time (including intubations).
Time frame
baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 yearSecondary outcomes
1
Frequency
Frequencies of patients with SMA 5q of type 1,2,3 and 4 cared in the reference centres between September 1 2016 and August 31 2024.
Time frame
through study completion, an average of 9 year2
Responses to the treatments (nusinersen and salbutamol)
Responses of the primary outcome measures to the therapies (salbutamol, nusinersen, onasemnogene, risdiplam)
Time frame
1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year3
Spinal status
Evolution of scoliosis (Cobb angle) in the preoperative period (patients treated vs not treated with Garches brace): first and last Cobb angle (and ages)
Time frame
1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year4
Impact of spinal surgery techniques in scoliosis
Impact of spinal surgery techniques in scoliosis (presurgical and last post surgical Cobb angle)
Time frame
1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 yearSponsors and contacts
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Source ClinicalTrials.gov