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NCT Number: NCT04177134

French Register of Patients With Spinal Muscular Atrophy

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.

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Key information

Conditions

Spinal Muscular Atrophy Central Nervous System Diseases Motor Neuron Disease Muscular Atrophy, Spinal Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases

Age range

0 day and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Unité neuromusculaire, Service de Neurologie et Réanimation Pédiatrique, (French neuromuscular reference network (FILNEMUS), Hôpital Raymond Poincaré,

Garches, 92380, France

Location status: Recruiting

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. 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

    • 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)

  2. 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

    • 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)

  3. Yearly changes of morbi-mortality-vital events

    Time frame: 9 years

    Events of hospitalizations, recurrent infections, fractures, complications and death.

  4. 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).

  5. 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

  6. 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)

Secondary outcomes

  1. 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.

  2. 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)

  3. 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)

  4. 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)

  5. 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.

  6. 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.

  7. 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)

  8. 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.

  9. 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

  10. Cardiological function and anatomy

    Time frame: through study completion, an average of 9 year

    Anatomic abnormalities will be evaluated by echocardiography.

  11. 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

  12. 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.

  13. 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.

  14. 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.

  15. 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.

  16. 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Susana Quijano-Roy, MD, PhD

CONTACT

[email protected]

+33147107890

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Registry information

Acronym: SMA

Important dates

Study start
2020
Primary completion
2029
Study completion
2029
First posted
Nov 26, 2019
Registry last updated
Apr 6, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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