- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04177134
French Register of Patients With Spinal Muscular Atrophy (SMA)
Study Overview
Status
Conditions
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.
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: Susana Quijano-Roy, MD, PhD
- Phone Number: +33147107890
- Email: susana.quijano-roy@aphp.fr
Study Locations
-
-
-
Garches, France, 92380
- Recruiting
- Unité neuromusculaire, Service de Neurologie et Réanimation Pédiatrique, (French neuromuscular reference network (FILNEMUS), Hôpital Raymond Poincaré,
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
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.
Study Plan
How is the study designed?
Design Details
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Motor functional development or status
Time Frame: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
|
baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Motor function scores
Time Frame: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
|
baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Yearly changes of morbi-mortality-vital events
Time Frame: 9 years
|
Events of hospitalizations, recurrent infections, fractures, complications and death.
|
9 years
|
Respiratory events
Time Frame: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Onset of respiratory support or change in the mode and time (including intubations).
|
baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Digestive-nutritional events
Time Frame: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Digestive events, onset of nutritional support or change in the mode and time
|
baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Yearly changes of spinal events
Time Frame: 9 years
|
Onset of spinal deformity, or increment of 5° or more in the Cobb angle (examination in supine position without brace ; if sitting possible, examination in the upright position, with or without brace or with or without implant (surgery)
|
9 years
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Frequency
Time Frame: through study completion, an average of 9 year
|
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.
|
through study completion, an average of 9 year
|
Responses to the treatments (nusinersen and salbutamol)
Time Frame: 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Responses of the primary outcome measures to the therapies (salbutamol, nusinersen, onasemnogene, risdiplam)
|
1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Spinal status
Time Frame: 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Evolution of scoliosis (Cobb angle) in the preoperative period (patients treated vs not treated with Garches brace): first and last Cobb angle (and ages)
|
1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Impact of spinal surgery techniques in scoliosis
Time Frame: 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Impact of spinal surgery techniques in scoliosis (presurgical and last post surgical Cobb angle)
|
1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Mortality
Time Frame: at 1, 2 and 5 years
|
For treated and untreated patients.
Rate of mortality will be assessed at 1,2 and 5 years.
|
at 1, 2 and 5 years
|
Pulmonary function
Time Frame: at 6 months
|
Forced vital capacity (FVC) will be evaluated at least once per year for children > 5 years, by specifying the posture of realization of the test, lying vs sitting.
|
at 6 months
|
Respiratory muscles performance
Time Frame: at 6 months
|
Peak expiratory and inspiratory pressures will be evaluated if possible for children > 5 years (MEP, MIP, PF, SNIP (sniff nasal inspiratory pressure)
|
at 6 months
|
Pulmonary function
Time Frame: at 6 months
|
PCF (peak cough flow) will be evaluated at least once per year for children > 5 years, by specifying the posture of realization of the test, lying vs sitting.
|
at 6 months
|
Cardiological parameter
Time Frame: through study completion, an average of 9 year
|
ECG abnormality will be evaluated by Holter ECG 24h: P Wave, QRS Complex, QT Interval
|
through study completion, an average of 9 year
|
Cardiological function and anatomy
Time Frame: through study completion, an average of 9 year
|
Anatomic abnormalities will be evaluated by echocardiography.
|
through study completion, an average of 9 year
|
Biomarkers
Time Frame: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Change of biomarkers: Neurofilaments and CPK
|
baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Patient's quality of life: PedsQL (Pediatric Quality of Life Inventory) Child report
Time Frame: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Questionary as the "PedsQL Child report" will be used to evaluate patient's quality of life.
Total Scale Score: 0.88 Child Self-Report; 0.90 Parent Proxy-Report.
|
baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Patient's quality of life: PedsQL parent report concerning child
Time Frame: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Questionary as the "PedsQL parent report concerning child" will be used to evaluate patient's quality of life.
Total Scale Score: 0.88 Child Self-Report; 0.90 Parent Proxy-Report.
|
baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Patient's quality of life: QoL-gNMD for adult
Time Frame: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Questionary as "QoL-gNMD for adult" (Quality of Life in genetic Neuromuscular Disease) will be used to evaluate patient's quality of life.
|
baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Caregiver burden assessement
Time Frame: at baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Questionnaire as "Work Productivity and Activity Impairment Questionnaire SMAv2" will be completed once a year by a member of neuromuscular center or patients or their relatives.
|
at baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Caregiver burden assessement
Time Frame: at baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Questionnaire as "FICD+4 Burden Interview Questionnaire" will be completed once a year by a member of neuromuscular center or patients or their relatives. FICD (Family Impact of Childhood Disability)+4 Burden Interview Questionnaire: the multidimensional measurements to assess the impacts on time, expenses, work, relationships and health of caregiver. |
at baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
|
Collaborators and Investigators
Investigators
- Principal Investigator: Susana Quijano-Roy, MD, PhD, Unité neuromusculaire, Service de Neurologie et Réanimation Pédiatrique, Hôpital Raymond Poincaré, 92380 Garches, FRANCE
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- APHP190245
- N° IDRCB: 2019-A01161-56 (Other Identifier: ANSM)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Spinal Muscular Atrophy
-
Marco CapogrossoRoche-GenentechRecruitingSpinal Muscular Atrophy Type 3 | Spinal Muscular Atrophy Type 4United States
-
Institut de Myologie, FranceInstitut RocheCompletedType 2 Spinal Muscular Atrophy | Type 3 Spinal Muscular AtrophyBelgium, France, Germany
-
Marco CapogrossoRoche-GenentechNot yet recruitingSpinal Muscular Atrophy | Spinal Muscular Atrophy Type 3 | SMA | Spinal Muscular Atrophy Type II | Spinal Muscular Atrophy 4United States
-
Novartis Gene TherapiesActive, not recruitingSMA | Spinal Muscular Atrophy Type II | Spinal Muscular Atrophy Type I | Spinal Muscular Atrophy Type IIIUnited States, Belgium, France, Japan, United Kingdom, Italy, Taiwan, Australia, Canada
-
Hoffmann-La RocheRecruitingSpinal Muscular Atrophy (SMA)Belgium, United States, Croatia, Japan, Netherlands, Spain, Canada, Poland, United Kingdom, Italy, Portugal, Australia
-
Northwell HealthCompletedAdult Spinal Muscular AtrophyUnited States
-
Hugh McMillanFamilies of Spinal Muscular Atrophy; Gwendolyn Strong FoundationTerminatedSpinal Muscular Atrophy (SMA)Canada
-
Hoffmann-La RocheAssociation Française contre les Myopathies (AFM), ParisCompletedSpinal Muscular Atrophy Type II | Spinal Muscular Atrophy Type III Non AmbulantGermany, Italy, France, Belgium, Poland, Netherlands, United Kingdom
-
Istanbul Medipol University HospitalIstanbul UniversityRecruitingNeuromuscular Diseases | Spinal Muscular Atrophy Type 3Turkey
-
Washington University School of MedicineActive, not recruitingSpinal Muscular Atrophy | Spinal Muscular Atrophy Type 3 | Spinal Muscular Atrophy Type IIUnited States, Canada