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.
Eligibility
Sex
ALL
Min age
1 Week
Max age
70 Years
Healthy volunteers
Accepted
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
Primary outcome measure(s)
The time to death — From date of enrollment until the date of death from any cause, assessed up to 20years
The correlation of genotype and phenotype — From date of enrollment until the date of death from any cause, assessed up to 20years Genotype is defined by survival motor neuron (SMN) 2 copy number(s) and phenotype is defined by clinical types and characteristics.
Trial sites (1)
Facility
City
Region
Status
Department of Neurology, First Affiliated Hospital Fujian Medical University
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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