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

Primary Purpose

Type 2 Spinal Muscular Atrophy, Type 3 Spinal Muscular Atrophy

Status
Completed
Phase
Not Applicable
Locations
International
Study Type
Interventional
Intervention
Strength, function and activity measurements
Muscle MRI
Electrophysiology measurements
Blood sampling for biomarker analysis
Sponsored by
Institut de Myologie, France
About
Eligibility
Locations
Outcomes
Full info

About this trial

This is an interventional basic science trial for Type 2 Spinal Muscular Atrophy focused on measuring SMA, Spinal Muscular Atrophy, Neuromuscular disease

Eligibility Criteria

2 Years - 30 Years (Child, Adult)All SexesDoes not accept healthy volunteers

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

Sites / Locations

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

Outcomes

Primary Outcome Measures

Change from baseline of muscle strength
Study-specific assessments: Grip and pinch strength
Change from baseline of motor function
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

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

Full Information

First Posted
March 2, 2015
Last Updated
July 17, 2018
Sponsor
Institut de Myologie, France
Collaborators
Institut Roche
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1. Study Identification

Unique Protocol Identification Number
NCT02391831
Brief Title
Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy
Acronym
NatHis-SMA
Official Title
Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy
Study Type
Interventional

2. Study Status

Record Verification Date
July 2018
Overall Recruitment Status
Completed
Study Start Date
May 2015 (undefined)
Primary Completion Date
June 2018 (Actual)
Study Completion Date
June 2018 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Institut de Myologie, France
Collaborators
Institut Roche

4. Oversight

Data Monitoring Committee
No

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Type 2 Spinal Muscular Atrophy, Type 3 Spinal Muscular Atrophy
Keywords
SMA, Spinal Muscular Atrophy, Neuromuscular disease

7. Study Design

Primary Purpose
Basic Science
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
81 (Actual)

8. Arms, Groups, and Interventions

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

10. Eligibility

Sex
All
Minimum Age & Unit of Time
2 Years
Maximum Age & Unit of Time
30 Years
Accepts Healthy Volunteers
No
Eligibility 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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Laurent Servais, MD
Organizational Affiliation
Association Institut de Myologie
Official's Role
Principal Investigator
Facility Information:
Facility Name
Reference centre for neuromuscular diseases - UZ Leuven - Department of Pediatrics - University Hospitals Leuven
City
Leuven
Country
Belgium
Facility Name
Centre de Référence neuromusculaire - CHR La Citadelle
City
Liege
Country
Belgium
Facility Name
Service de Rééducation Pédiatrique Infantile " L'Escale " - Hôpital Femme Mère Enfant
City
Bron
Country
France
Facility Name
Maladie Neuromusculaire de l'enfant - Service Maladies infectieuses et neurologie infantile - Hôpital Roger Salengro
City
Lille
Country
France
Facility Name
Centre de référence Maladies Neuromusculaires Nantes-Angers - Hôtel Dieu
City
Nantes
Country
France
Facility Name
I-Motion Institute - Trousseau Hospital
City
Paris
Country
France
Facility Name
Neuropédiatrie - Service de Pédiatrie 1 - CHU Hautepierre
City
Strasbourg
Country
France
Facility Name
Unité de neurologie pédiatrique - Hôpital des enfants
City
Toulouse
Country
France
Facility Name
Universitätsklinikum Essen (AöR) - Klinik für Kinderheilkunde I - Sozialpädiatrisches Zentrum
City
Essen
Country
Germany

12. IPD Sharing Statement

Citations:
PubMed Identifier
30048507
Citation
Chabanon A, Seferian AM, Daron A, Pereon Y, Cances C, Vuillerot C, De Waele L, Cuisset JM, Laugel V, Schara U, Gidaro T, Gilabert S, Hogrel JY, Baudin PY, Carlier P, Fournier E, Lowes LP, Hellbach N, Seabrook T, Toledano E, Annoussamy M, Servais L; NatHis-SMA study group. Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study. PLoS One. 2018 Jul 26;13(7):e0201004. doi: 10.1371/journal.pone.0201004. eCollection 2018.
Results Reference
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Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy

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