A Registered Cohort Study on SMA
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Spinal Muscular Atrophy. Basic parameters: 1 Week — 70 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- China
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
A Registered Cohort Study on Spinal Muscular Atrophy
Overview
Spinal muscular atrophy (SMA) is an autosomal recessive disease that causes progressive muscle wasting and weakness due to loss of motor neurons in the spinal cord. This is a registered cohort of spinal muscular atrophy (SMA) type I，II and III in China. This study will provide further insights into the clinical course of SMA including overall survival, demographic characteristics, motor function, respiratory support, feeding and nutritional support, growth and development. The correlation of genotype and phenotype will be conducted.
Primary outcome measures
- The time to death [Time frame: From date of enrollment until the date of death from any cause, assessed up to 20years]
- The correlation of genotype and phenotype [Time frame: From date of enrollment until the date of death from any cause, assessed up to 20years]
Eligibility criteria
Inclusion criteria
- Patients with SMA types I, II and III
- Asymptomatic SMA carriers
- Relatives of SMA patients or carriers
- Unrelated healthy controls
- Participants or Parent(s)/legal guardian(s) willing and able to complete the informed consent process
Exclusion criteria
\* Participants are unable to comply with trial procedures and visit schedule
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
China · 1 center
- Department of Neurology, First Affiliated Hospital Fujian Medical University — Fuzhou
Identifiers
NCT: NCT04010604 · MRCTA,ECFAHOFFMU[2019]196