Spinal Muscular AtrophySMANCT04177134
French Register of Patients With Spinal Muscular Atrophy
An observational study of Spinal Muscular Atrophy, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 0 days and older
- Conditions the study is for
- Spinal Muscular Atrophy
- How many people
- 1,000 participants
- Where
- 1 siteFrance
- Study dates
- 31 Jan 2020to 31 Jan 2029
- How long will I take part?
- 9 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 days and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- Other type of SMA (not 5q).
- Under guardianship or curatorship.
- Unable to understand french language.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Unité neuromusculaire, Service de Neurologie et Réanimation Pédiatrique, (French neuromuscular reference network (FILNEMUS), Hôpital Raymond Poincaré,
Garches, 92380
About this study
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.
Read the 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.
- Conditions
- Spinal Muscular Atrophy
- Keywords
- spinal muscular atrophy
- Medical subject headings
- Muscular Atrophy, Spinal
What is being measured
The primary outcome is the main question the study is designed to answer.
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)
Measured: 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)
Measured: 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.
Measured: 9 years
Respiratory events
Onset of respiratory support or change in the mode and time (including intubations).
Measured: 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
Measured: 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)
Measured: 9 years
Secondary outcomes (16)
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.
Measured: through study completion, an average of 9 year
Responses to the treatments (nusinersen and salbutamol)
Responses of the primary outcome measures to the therapies (salbutamol, nusinersen, onasemnogene, risdiplam)
Measured: 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
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)
Measured: 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
Impact of spinal surgery techniques in scoliosis (presurgical and last post surgical Cobb angle)
Measured: 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
Mortality
For treated and untreated patients. Rate of mortality will be assessed at 1,2 and 5 years.
Measured: at 1, 2 and 5 years
Pulmonary function
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.
Measured: at 6 months
Respiratory muscles performance
Peak expiratory and inspiratory pressures will be evaluated if possible for children > 5 years (MEP, MIP, PF, SNIP (sniff nasal inspiratory pressure)
Measured: at 6 months
Pulmonary function
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.
Measured: at 6 months
Cardiological parameter
ECG abnormality will be evaluated by Holter ECG 24h: P Wave, QRS Complex, QT Interval
Measured: through study completion, an average of 9 year
Cardiological function and anatomy
Anatomic abnormalities will be evaluated by echocardiography.
Measured: through study completion, an average of 9 year
Biomarkers
Change of biomarkers: Neurofilaments and CPK
Measured: 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
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.
Measured: 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
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.
Measured: 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
Questionary as "QoL-gNMD for adult" (Quality of Life in genetic Neuromuscular Disease) will be used to evaluate patient's quality of life.
Measured: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
Caregiver burden assessement
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.
Measured: at baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
Caregiver burden assessement
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.
Measured: at baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Nov 2019
- Study start31 Jan 2020
- Primary completion31 Jan 2029 (estimated)
- Study completion31 Jan 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 1,000 participants (estimated)
- Target duration
- 9 Years
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Susana Quijano-Roy, MD, PhD, Principal investigator, Unité neuromusculaire, Service de Neurologie et Réanimation Pédiatrique, Hôpital Raymond Poincaré, 92380 Garches, FRANCE
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04177134
- Sponsor's protocol ID
- APHP190245
- Other IDs
- N° IDRCB: 2019-A01161-56
- Acronym
- SMA
- Status last verified
- Mar 2025
- First submitted
- 26 Sep 2019
- Last updated
- 6 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Grimaldi L, Garcia-Uzquiano R, de la Banda MG, Oulhissane-Omar A, Tard C, Saugier-Veber P, Laugel V, Desguerre I, Cintas P, Vuillerot C, Audic F, Cances C, Stojkovic T, Urtizberea JA, Attarian S, Ropars J, Quijano-Roy S; Registre SMA France Study Group. REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France. J Neuromuscul Dis. 2025 Nov;12(6):793-803. doi: 10.1177/22143602251353446. Epub 2025 Jul 8.
PubMed 40625130Gerin L, Ropars J, Garcia-Uzquiano R, Gomez-Garcia De la Banda M, Saugier-Veber P, Desguerre I, Salort-Campana E, Espil C, Barnerias C, Laugel V, Cances C, Audic F, Cintas P, Le Goff L, Mallaret M, Nougues MC, Drunat S, Tard C, Grimaldi L, Quijano-Roy S; R-SMA Study Group (FILNEMUS). Spectrum of Phenotypes in SMA Patients With 4 SMN2 Copies in the French Population: Registre SMA France. Neurol Genet. 2025 Apr 1;11(2):e200222. doi: 10.1212/NXG.0000000000200222. eCollection 2025 Apr.
PubMed 40212804
Study at a glance
From the registry record, last updated by the sponsor on 6 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- French Register of Patients With Spinal Muscular Atrophy
- ClinicalTrials.gov ID
- NCT04177134
- Acronym / sponsor ID
- SMA / APHP190245
- Conditions
- Spinal Muscular Atrophy
- Keywords
- spinal muscular atrophy
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 31 Jan 2020 (actual)
- Primary completion
- 31 Jan 2029 (estimated)
- Study completion
- 31 Jan 2029 (estimated)
- First posted
- 26 Nov 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 9 Years
Who may qualify
- Ages
- 0 days and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (3 listed)
- Other type of SMA (not 5q).
- Under guardianship or curatorship.
- Unable to understand french language.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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)
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)
Yearly changes of morbi-mortality-vital events
Time frame: 9 years
Events of hospitalizations, recurrent infections, fractures, complications and death.
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).
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
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)
16 secondary outcomes
Frequency
Time frame: 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
Spinal status
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
Time frame: 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
Pulmonary function
Time frame: at 6 months
Respiratory muscles performance
Time frame: at 6 months
Pulmonary function
Time frame: at 6 months
Cardiological parameter
Time frame: through study completion, an average of 9 year
Cardiological function and anatomy
Time frame: 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
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
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
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
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
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Apr 2025.
- Derived from this study: PubMed 40625130Grimaldi L, Garcia-Uzquiano R, de la Banda MG, Oulhissane-Omar A, Tard C, Saugier-Veber P, Laugel V, Desguerre I, Cintas P, Vuillerot C, Audic F, Cances C, Stojkovic T, Urtizberea JA, Attarian S, Ropars J, Quijano-Roy S; Registre SMA France Study Group. REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France. J Neuromuscul Dis. 2025 Nov;12(6):793-803. doi: 10.1177/22143602251353446. Epub 2025 Jul 8.
- Derived from this study: PubMed 40212804Gerin L, Ropars J, Garcia-Uzquiano R, Gomez-Garcia De la Banda M, Saugier-Veber P, Desguerre I, Salort-Campana E, Espil C, Barnerias C, Laugel V, Cances C, Audic F, Cintas P, Le Goff L, Mallaret M, Nougues MC, Drunat S, Tard C, Grimaldi L, Quijano-Roy S; R-SMA Study Group (FILNEMUS). Spectrum of Phenotypes in SMA Patients With 4 SMN2 Copies in the French Population: Registre SMA France. Neurol Genet. 2025 Apr 1;11(2):e200222. doi: 10.1212/NXG.0000000000200222. eCollection 2025 Apr.
- Individual participant dataSharing planned: No
Related trials for Spinal Muscular Atrophy
Active, not recruitingPhase 4
A Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Participants With Spinal Muscular Atrophy After Gene Therapy
Muscular Atrophy, Spinal
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
RecruitingObservational study
A Study of Risdiplam in Participants With Type I and Type II Spinal Muscle Atrophy (SMA)
Spinal Muscle Atrophy
RecruitingPhase 3
A Study to Learn About the Investigational Drug Rinzimetostat (ORIC-944) in Patients With mCRPC Who Were Previously Treated With Abiraterone Acetate (Himalayas-1)
Metastatic Castration Resistant Prostate Cancer
Recruiting
Assessment of a Portable Digital Device for Quantified Analysis of Markerless Walking in Volunteers With Neuromuscular Diseases or Asymptomatic Volunteers
Spinal Muscular Atrophy (SMA), Charcot-Marie-Tooth
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Susana Quijano-Roy, MD, PhD principal investigator
Unité neuromusculaire, Service de Neurologie et Réanimation Pédiatrique, Hôpital Raymond Poincaré, 92380 Garches, FRANCE
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal Muscular Atrophy, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Susana Quijano-Roy, MD, PhD (+33147107890, susana.quijano-roy@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04177134, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Apr 2025.