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NCT Number: NCT02391831

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

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.

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Key information

Conditions

Type 2 Spinal Muscular Atrophy Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Motor Neuron Disease Muscular Atrophy, Spinal Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases Spinal Muscular Atrophies of Childhood Type 3 Spinal Muscular Atrophy

Age range

2 year–30 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

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

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Strength, function and activity measurements

Other

Muscle MRI

Other

Electrophysiology measurements

Other

Blood sampling for biomarker analysis

Other

Primary outcomes

  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 outcomes

  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)

Sponsors and collaborators

Lead sponsor

Institut de Myologie, France

Other

Collaborators

  • Institut Roche

Registry information

Acronym: NatHis-SMA

Important dates

Study start
2015
Primary completion
2018
Study completion
2018
First posted
Mar 18, 2015
Registry last updated
Jul 19, 2018

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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