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

Type 2 Spinal Muscular Atrophy Clinical Trial

— NatHis-SMA  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02391831
• Other study ID #: NatHis-SMA
• Secondary ID: IDRCB-2014-A0126
• Status: Completed
• Phase: N/A
• Start date: May 2015
• Est. completion date: June 2018

Study information

• Verified date: July 2018
• Source: Institut de Myologie, France
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 81
• Est. completion date: June 2018
• Est. primary completion date: June 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: 2 Years to 30 Years

Eligibility

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

Related Conditions & MeSH terms

• Atrophy
• Muscular Atrophy
• Muscular Atrophy, Spinal
• Type 2 Spinal Muscular Atrophy
• Type 3 Spinal Muscular Atrophy

Intervention

Other:
• Strength, function and activity measurements

• Muscle MRI

• Electrophysiology measurements

• Blood sampling for biomarker analysis

Locations

Country	Name	City	State
Belgium	Reference centre for neuromuscular diseases - UZ Leuven - Department of Pediatrics - University Hospitals Leuven	Leuven
Belgium	Centre de Référence neuromusculaire - CHR La Citadelle	Liege
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
Germany	Universitätsklinikum Essen (AöR) - Klinik für Kinderheilkunde I - Sozialpädiatrisches Zentrum	Essen

Sponsors (2)

Lead Sponsor	Collaborator
Institut de Myologie, France	Institut Roche

Countries where clinical trial is conducted

Belgium,  France,  Germany, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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	Change from baseline of respiratory function	Study-specific assessments: Pulmonary function tests	Baseline and then every 6 months until end of the study, up to 24 months
Secondary	Change from baseline of physical activity of upper limbs movements	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
Secondary	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)	Baseline and then every 12 months until the end of the study, up to 24 months
Secondary	Change from baseline of electrophysiology measurements	Compound Motor Action Potential (CMAP) Amplitude and Decrement search	Baseline and then every 6 months until end of the study, up to 24 months
Secondary	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)	Baseline and then every 6 months until end of the study, up to 24 months