Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy (NatHis-SMA)
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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
Type 2 Spinal Muscular AtrophyType 3 Spinal Muscular Atrophy
Other: Strength, function and activity measurementsOther: Muscle MRIOther: Electrophysiology measurementsOther: Blood sampling for biomarker analysis
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
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 :
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
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
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)
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
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)
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Layout table for eligibility information
Ages Eligible for Study:
2 Years to 30 Years (Child, Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
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
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.