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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02391831
Recruitment Status : Completed
First Posted : March 18, 2015
Last Update Posted : July 19, 2018
Sponsor:
Collaborator:
Institut Roche
Information provided by (Responsible Party):
Institut de Myologie, France

Study Description
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Brief Summary:
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.

Condition or disease Intervention/treatment Phase
Type 2 Spinal Muscular Atrophy Type 3 Spinal Muscular Atrophy Other: Strength, function and activity measurements Other: Muscle MRI Other: Electrophysiology measurements Other: Blood sampling for biomarker analysis Not Applicable

Study Design
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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 81 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Official Title: Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy
Study Start Date : May 2015
Actual Primary Completion Date : June 2018
Actual Study Completion Date : June 2018

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Arms and Interventions
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Outcome Measures
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Primary Outcome Measures :
  1. 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

  2. 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)


Secondary Outcome Measures :
  1. 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

  2. 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

  3. 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)

  4. 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

  5. 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)


Eligibility Criteria
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Ages Eligible for Study:   2 Years to 30 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02391831


Locations
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Belgium
Reference centre for neuromuscular diseases - UZ Leuven - Department of Pediatrics - University Hospitals Leuven
Leuven, Belgium
Centre de Référence neuromusculaire - CHR La Citadelle
Liege, Belgium
France
Service de Rééducation Pédiatrique Infantile " L'Escale " - Hôpital Femme Mère Enfant
Bron, France
Maladie Neuromusculaire de l'enfant - Service Maladies infectieuses et neurologie infantile - Hôpital Roger Salengro
Lille, France
Centre de référence Maladies Neuromusculaires Nantes-Angers - Hôtel Dieu
Nantes, France
I-Motion Institute - Trousseau Hospital
Paris, France
Neuropédiatrie - Service de Pédiatrie 1 - CHU Hautepierre
Strasbourg, France
Unité de neurologie pédiatrique - Hôpital des enfants
Toulouse, France
Germany
Universitätsklinikum Essen (AöR) - Klinik für Kinderheilkunde I - Sozialpädiatrisches Zentrum
Essen, Germany
Sponsors and Collaborators
Institut de Myologie, France
Institut Roche
Investigators
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Principal Investigator: Laurent Servais, MD Association Institut de Myologie
More Information
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Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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Responsible Party: Institut de Myologie, France
ClinicalTrials.gov Identifier: NCT02391831    
Other Study ID Numbers: NatHis-SMA
IDRCB-2014-A01263-44 ( Other Identifier: ANSM (French Regulatory Authority) )
First Posted: March 18, 2015    Key Record Dates
Last Update Posted: July 19, 2018
Last Verified: July 2018
Keywords provided by Institut de Myologie, France:
SMA
Spinal Muscular Atrophy
Neuromuscular disease
Additional relevant MeSH terms:
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Muscular Atrophy
Muscular Atrophy, Spinal
Atrophy
Pathological Conditions, Anatomical
Neuromuscular Manifestations
Neurologic Manifestations
 Nervous System Diseases
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases