Spinal Muscular AtrophyNCT03339830

European Registry of Patients With Infantile-onset Spinal Muscular Atrophy

An observational study of Spinal Muscular Atrophy, run by Institut de Myologie, France at 6 sites in France.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Trial summary

IO-SMA-Registry is a prospective, longitudinal and observational study which objective is to collect prospectively information on longevity, psychomotor development and respiratory function of patients with infantile-onset spinal muscular atrophy. Read more about this study

Who is it for?: Any age
Conditions the study is for: Spinal Muscular Atrophy
How many people: 100 participants
Where: 6 sitesFrance
Study dates: 10 Oct 2017to 15 Nov 2020
How long will I take part?: 5 Years
Phase: Observational
Are there results?: None posted in the registry

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 Any age
All sexes
No healthy volunteers
Child, Adult, Older adult

Study population: Neuromuscular reference centers

Who may be able to join

Spinal Muscular Atrophy diagnosed in childhood (before 18 months) and genetically confirmed.
For patients with SMA type 1: Never acquired independent sitting position (more than 30 seconds, without hand support or any external support)
For patients with SMA type 2 or 3: Patient treated with a market approved treatment for SMA or with a treatment in an expanded access program
Any age
Patients over 18 years of age or parent(s)/legal guardian(s) of patients < 18 years of age not opposed to data collection for research purposes

Who cannot join

None

Trial locations and contacts

6 sites in 1 country.

City, postcode or hospital

6 sites in 1 country

France6 sites

Hopital Morvan - CHU de Brest
Brest
Service de Rééducation Pédiatrique Infantile " L'Escale " - Hôpital Femme Mère Enfant
Bron
Hôpital le Bocage - CHU Dijon
Dijon
Maladie Neuromusculaire de l'enfant - Service Maladies infectieuses et neurologie infantile - Hôpital Roger Salengro
Lille
I-Motion Institute
Paris
Unité de neurologie pédiatrique - Hôpital des enfants
Toulouse

Other trials in France

About this study

Conditions: Spinal Muscular Atrophy
Keywords: SMA, Spinal Muscular Atrophy, Neuromuscular disease, Spinraza
Medical subject headings: Muscular Atrophy, Spinal, Neuromuscular Diseases

What is being measured

The primary outcome is the main question the study is designed to answer.

Change from Baseline in survival
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in psychomotor development
Motor milestones acquired and/or lost
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in the number of lower track infections
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in ventilation use
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in cough assist use
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in Forced Vital Capacity
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in diurnal saturation
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in nocturnal hypercapnia
Measured: Baseline and then every 6 months until the end of the study, up to 5 years

Secondary outcomes (17)

Change from the beginning of the treatment of psychomotor development
Retrospective and prospective collection of data from patients/parents interview and medical files Motor milestones acquired and/or lost
Measured: Since the beginning of the treatment until the end of the study, up to 5 years
Change from the beginning of the treatment of the number of hospitalizations
Retrospective and prospective collection of data from patients/parents interview and medical files
Measured: Since the beginning of the treatment until the end of the study, up to 5 years
Change from the beginning of the treatment of the duration of hospitalizations
Retrospective and prospective collection of data from patients/parents interview and medical files
Measured: Since the beginning of the treatment until the end of the study, up to 5 years
Change from Baseline of Clinical Global Impressions - Improvement (CGI-I)
Quantification of patient progress and treatment response over time
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of the scoliosis occurence
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of the arthrodesis occurence
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of contractures occurrence
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of wheelchair use
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of feeding status
Feeding difficulties (swallowing, chewing, sucking), excessive drooling, need of a feeding tube, occurrence of gastrostomy
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of speech impairment
Speech incapacity, voice tone disorders
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of Hammersmith Infant Neurological Examination (HINE) score
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) score
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of Motor Function Measure (MFM) score
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of Expanded Hammersmith Functional Motor Scale (HFMSE) score
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of the number of physiotherapy sessions per week
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of the number of balneotherapy sessions per week
Measured: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of the number of occupational therapy sessions per week
Measured: Baseline and then every 6 months until the end of the study, up to 5 years

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

10 Oct 201715 Nov 2020

First posted13 Nov 2017
Study start10 Oct 2017
Primary completion15 Nov 2020
Study completion15 Nov 2020

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
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: Prospective
Enrolment: 100 participants (actual)
Target duration: 5 Years

IDs, dates and publications

ClinicalTrials.gov ID: NCT03339830
Sponsor's protocol ID: IO-SMA-Registry
Other IDs: 2017-A02291-52
Status last verified: Sep 2021
First submitted: 18 Oct 2017
Last updated: 13 Sep 2021
Results posted: No
Data monitoring committee: No
FDA-regulated drug: No
FDA-regulated device: No
Individual data sharing: Undecided

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

See locations

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

All Spinal Muscular Atrophy trials

Study at a glance

From the registry record, last updated by the sponsor on 13 Sep 2021. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: European Registry of Patients With Infantile-onset Spinal Muscular Atrophy
ClinicalTrials.gov ID: NCT03339830
Acronym / sponsor ID: IO-SMA-Registry
Conditions: Spinal Muscular Atrophy
Keywords: SMA, Spinal Muscular Atrophy, Neuromuscular disease, Spinraza
Study type: Observational
Recruitment status: Completed
Enrolment: 100 participants (actual)
Lead sponsor: Institut de Myologie, FranceUniversity, hospital or other
Study start: 10 Oct 2017 (actual)
Primary completion: 15 Nov 2020 (actual)
Study completion: 15 Nov 2020 (actual)
First posted: 13 Nov 2017 (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.

Study design

Observational model: Cohort
Time perspective: Prospective
Target follow-up: 5 Years

Who may qualify

Sex: All
Healthy volunteers: Not accepted
Age groups: Child, Adult, Older adult
Study population: Neuromuscular reference centers

Key inclusion criteria (5 listed)

Spinal Muscular Atrophy diagnosed in childhood (before 18 months) and genetically confirmed.
For patients with SMA type 1: Never acquired independent sitting position (more than 30 seconds, without hand support or any external support)
For patients with SMA type 2 or 3: Patient treated with a market approved treatment for SMA or with a treatment in an expanded access program
Any age
Patients over 18 years of age or parent(s)/legal guardian(s) of patients < 18 years of age not opposed to data collection for research purposes

Key exclusion criteria (1 listed)

None

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

Change from Baseline in survival
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in psychomotor development
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Motor milestones acquired and/or lost
Change from Baseline in the number of lower track infections
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in ventilation use
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in cough assist use
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in Forced Vital Capacity
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in diurnal saturation
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in nocturnal hypercapnia
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

17 secondary outcomes

Change from the beginning of the treatment of psychomotor development
Time frame: Since the beginning of the treatment until the end of the study, up to 5 years
Change from the beginning of the treatment of the number of hospitalizations
Time frame: Since the beginning of the treatment until the end of the study, up to 5 years
Change from the beginning of the treatment of the duration of hospitalizations
Time frame: Since the beginning of the treatment until the end of the study, up to 5 years
Change from Baseline of Clinical Global Impressions - Improvement (CGI-I)
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of the scoliosis occurence
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of the arthrodesis occurence
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of contractures occurrence
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of wheelchair use
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of feeding status
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of speech impairment
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of Hammersmith Infant Neurological Examination (HINE) score
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) score
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of Motor Function Measure (MFM) score
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of Expanded Hammersmith Functional Motor Scale (HFMSE) score
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of the number of physiotherapy sessions per week
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of the number of balneotherapy sessions per week
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline of the number of occupational therapy sessions per week
Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

Results and safety

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 13 Sep 2021.
Individual participant dataSharing planned: Undecided

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. This study is not recruiting at the moment.

Laurent Servais, MD, PhD principal investigator

Institute of Myology

6 sites 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 Institut de Myologie, France at 6 sites 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 5 inclusion and 1 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: finished, as of the sponsor's last update on 13 Sep 2021. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 6 sites 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?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Change from Baseline in survival (time frame: Baseline and then every 6 months until the end of the study, up to 5 years). The study lists 8 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 NCT03339830.

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 13 Sep 2021.