European Registry of Patients With Infantile-onset Spinal Muscular Atrophy

September 10, 2021 updated by: Institut de Myologie, France
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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

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

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • ADULT
  • OLDER_ADULT
  • CHILD

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Neuromuscular reference centers

Description

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • None

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Change from Baseline in survival
Time Frame: Baseline and then every 6 months until the end of the study, up to 5 years
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
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
Time Frame: Baseline and then every 6 months until the end of the study, up to 5 years
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
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
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
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
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
Baseline and then every 6 months until the end of the study, up to 5 years

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
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
Retrospective and prospective collection of data from patients/parents interview and medical files Motor milestones acquired and/or lost
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
Retrospective and prospective collection of data from patients/parents interview and medical files
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
Retrospective and prospective collection of data from patients/parents interview and medical files
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
Quantification of patient progress and treatment response over time
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
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
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
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
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
Feeding difficulties (swallowing, chewing, sucking), excessive drooling, need of a feeding tube, occurrence of gastrostomy
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
Speech incapacity, voice tone disorders
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
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
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
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
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
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
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
Baseline and then every 6 months until the end of the study, up to 5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Institut de Myologie, France

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Laurent Servais, MD, PhD, Institute of Myology

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
October 10, 2017

Primary Completion (ACTUAL)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
November 15, 2020

Study Completion (ACTUAL)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
November 15, 2020

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
October 18, 2017

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
November 7, 2017

First Posted (ACTUAL)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
November 13, 2017

Study Record Updates

Last Update Posted (ACTUAL)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
September 13, 2021

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
September 10, 2021

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
September 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • IO-SMA-Registry
  • 2017-A02291-52 (OTHER: ANSM (French Regulatory Authority))

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

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.

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