start date: January 31, 2020
estimated completion: January 31, 2029
last updated: February 16, 2021
size / enrollment: 1000
study 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.
primary outcomes:
- 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)
- baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
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)
- 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
Events of hospitalizations, recurrent infections, fractures, complications and death.
- 9 years
Respiratory events
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
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
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 outcomes:
- Frequency
through study completion, an average of 9 year
- Responses to the treatments (nusinersen and salbutamol)
1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
- Spinal status
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
1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
- Mortality
at 1, 2 and 5 years
- Pulmonary function
at 6 months
- Respiratory muscles performance
at 6 months
- Pulmonary function
at 6 months
- Cardiological parameter
through study completion, an average of 9 year
- Cardiological function and anatomy
through study completion, an average of 9 year
- Biomarkers
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
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
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
baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
- Caregiver burden assessement
at baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
- Caregiver burden assessement
at baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
inclusion criteria:
• Eligible Ages: 0 - 120
• Eligible Sexes: all
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: Criteria:
Other type of SMA (not 5q).
Under guardianship or curatorship.
Unable to understand french language.
English
Spanish
