Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy (NatHis-SMA)

July 17, 2018 updated by: Institut de Myologie, France
NatHis-SMA is a prospective, longitudinal and interventional study of the natural history of patients with type 2 and 3 Spinal Muscular Atrophy (SMA). The purpose of this study is to characterize the disease course over 2 years and identify prognostic variables of the disease and biomarkers of SMA progression, as well as determine the best outcome measures for further therapeutics approaches.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

81

Phase

  • Not Applicable

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

  • Belgium
      • Leuven, Belgium
        • Reference centre for neuromuscular diseases - UZ Leuven - Department of Pediatrics - University Hospitals Leuven
      • Liege, Belgium
        • Centre de Référence neuromusculaire - CHR La Citadelle
  • France
      • Bron, France
        • Service de Rééducation Pédiatrique Infantile " L'Escale " - Hôpital Femme Mère Enfant
      • Lille, France
        • Maladie Neuromusculaire de l'enfant - Service Maladies infectieuses et neurologie infantile - Hôpital Roger Salengro
      • Nantes, France
        • Centre de référence Maladies Neuromusculaires Nantes-Angers - Hôtel Dieu
      • Paris, France
        • I-Motion Institute - Trousseau Hospital
      • Strasbourg, France
        • Neuropédiatrie - Service de Pédiatrie 1 - CHU Hautepierre
      • Toulouse, France
        • Unité de neurologie pédiatrique - Hôpital des enfants
  • Germany
      • Essen, Germany
        • Universitätsklinikum Essen (AöR) - Klinik für Kinderheilkunde I - Sozialpädiatrisches Zentrum

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

Ages Eligible for Study

2 years to 30 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

INCLUSION CRITERIA

  • Type 2 or 3 spinal muscular atrophy genetically confirmed
  • Age superior or equal to 2 years old up to 30 years of age included
  • For patients older than 6 years old, willing and able to comply with all protocol requirements and procedures.
  • For non-ambulant patients, able to sit upright in a wheelchair for at least three hours
  • Patients over 18 years of age and parent(s)/legal guardian(s) of patients < 18 years of age must provide written informed consent prior to participating in the study and informed assent will be obtained from minors at least 7 years of age when required by regulation.
  • In France only: Affiliated to or a beneficiary of a social security category

EXCLUSION CRITERIA

  • Previously treated with an investigational drug within 6 months prior the recruitment in this study.
  • Other condition which may significantly interfere with the assessment of the SMA and is clearly not related to the disease
  • Current or anticipated participation in any therapeutic investigational clinical studies.
  • Patients with specific contraindication to MRI (i.e. metallic foreign body, claustrophobia, and others deemed to be prohibitive by the investigators) will be allowed to participate, but MRI will not be performed.
  • For women : pregnancy or current breastfeeding

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

  • Primary Purpose: Basic Science
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Change from baseline of muscle strength
Time Frame: Baseline and then every 6 months until end of the study, up to 24 months
Study-specific assessments: Grip and pinch strength
Baseline and then every 6 months until end of the study, up to 24 months
Change from baseline of motor function
Time Frame: Baseline and then every 6 months until end of the study, up to 24 months
Study-specific assessments: Moviplate and MFM scores, upper extremity functional reaching volume, timed tests (time to rise from floor, time to walk 10 meters, time to climb and descend stairs, distance walked on the Six-Minute Walk Test)
Baseline and then every 6 months until end of the study, up to 24 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Change from baseline of respiratory function
Time Frame: Baseline and then every 6 months until end of the study, up to 24 months
Study-specific assessments: Pulmonary function tests
Baseline and then every 6 months until end of the study, up to 24 months
Change from baseline of physical activity of upper limbs movements
Time Frame: Baseline and then every 6 months until end of the study, up to 24 months
Quantity and duration of movements, time of inactivity during the day
Baseline and then every 6 months until end of the study, up to 24 months
Change from baseline of skeletal muscle nuclear magnetic resonance (NMR) imaging (MRI)
Time Frame: Baseline and then every 12 months until the end of the study, up to 24 months
Muscle volume changes, intramuscular fatty infiltration progression, indices of disease activity (only for Paris and Strasbourg sites and for patients older than 4 years)
Baseline and then every 12 months until the end of the study, up to 24 months
Change from baseline of electrophysiology measurements
Time Frame: Baseline and then every 6 months until end of the study, up to 24 months
Compound Motor Action Potential (CMAP) Amplitude and Decrement search
Baseline and then every 6 months until end of the study, up to 24 months
Change from baseline of Biomarkers of SMA progression
Time Frame: Baseline and then every 6 months until end of the study, up to 24 months
SMN mRNA and protein analysis, SMA exploratory biomarkers (e.g. mRNA, DNA profiling, RNA profiling, proteomic profiling)
Baseline and then every 6 months until end of the study, up to 24 months

Collaborators and Investigators

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

Sponsor

Institut de Myologie, France

Collaborators

Institut Roche

Investigators

  • Principal Investigator: Laurent Servais, MD, Association institut de Myologie

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

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

May 1, 2015

Primary Completion (Actual)

June 1, 2018

Study Completion (Actual)

June 1, 2018

Study Registration Dates

First Submitted

March 2, 2015

First Submitted That Met QC Criteria

March 12, 2015

First Posted (Estimate)

March 18, 2015

Study Record Updates

Last Update Posted (Actual)

July 19, 2018

Last Update Submitted That Met QC Criteria

July 17, 2018

Last Verified

July 1, 2018

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • NatHis-SMA
  • IDRCB-2014-A01263-44 (Other Identifier: ANSM (French Regulatory Authority))

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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