Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy

NCT02391831 | Completed

• 2 other identifiers: NatHis-SMAIDRCB-2014-A01263-44
• Study Type: interventional
• Target: 81
• Locations: 3 countries
• Sites: 9

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.

Conditions

Type 2 Spinal Muscular Atrophy; Type 3 Spinal Muscular Atrophy

Keywords

SMA; Spinal Muscular Atrophy; Neuromuscular disease

Outcome Measures

Primary Outcomes (2)

• Change from baseline of muscle strength

  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

  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 Outcomes (5)

• Change from baseline of respiratory function

  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

  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)

  Baseline and then every 12 months until the end of the study, up to 24 months

• Change from baseline of electrophysiology measurements

  Baseline and then every 6 months until end of the study, up to 24 months

• Change from baseline of Biomarkers of SMA progression

  Baseline and then every 6 months until end of the study, up to 24 months

Interventions

Strength, function and activity measurements OTHER

Muscle MRI OTHER

Electrophysiology measurements OTHER

Blood sampling for biomarker analysis OTHER

Eligibility Criteria

• Age: 2 Years - 30 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Institut de Myologie, France: lead
• Institut Roche: collaborator

Study Sites (9)

Reference centre for neuromuscular diseases - UZ Leuven - Department of Pediatrics - University Hospitals Leuven

Leuven, Belgium

Location

Centre de Référence neuromusculaire - CHR La Citadelle

Liège, Belgium

Location

Service de Rééducation Pédiatrique Infantile " L'Escale " - Hôpital Femme Mère Enfant

Bron, France

Location

Maladie Neuromusculaire de l'enfant - Service Maladies infectieuses et neurologie infantile - Hôpital Roger Salengro

Lille, France

Location

Centre de référence Maladies Neuromusculaires Nantes-Angers - Hôtel Dieu

Nantes, France

Location

I-Motion Institute - Trousseau Hospital

Paris, France

Location

Neuropédiatrie - Service de Pédiatrie 1 - CHU Hautepierre

Strasbourg, France

Location

Unité de neurologie pédiatrique - Hôpital des enfants

Toulouse, France

Location

Universitätsklinikum Essen (AöR) - Klinik für Kinderheilkunde I - Sozialpädiatrisches Zentrum

Essen, Germany

Location

Related Publications (1)

• 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.

  PMID: 30048507 DERIVED

MeSH Terms

Conditions

Spinal Muscular Atrophies of Childhood; Muscular Atrophy, Spinal; Neuromuscular Diseases

Interventions

Functional Status; Blood Specimen Collection

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Motor Neuron Disease; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Activities of Daily Living; Rehabilitation; Health Services; Health Care Facilities Workforce and Services; Health Status; Demography; Epidemiologic Measurements; Public Health; Environment and Public Health; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Laurent Servais, MD

  Association Institut de Myologie

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 2, 2015
• First Posted: March 18, 2015
• Study Start: May 1, 2015
• Primary Completion: June 1, 2018
• Study Completion: June 1, 2018
• Last Updated: July 19, 2018

Record last verified: 2018-07

Locations

DE (1); BE (2); FR (6)