Spinal Muscular Atrophy
Conditions
Brief summary
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.
Interventions
None listed
Sponsors
Wan-Jin Chen
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
1 Weeks to 70 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
China
Contacts
Primary ContactYi Lin, PhD
Backup ContactWan-Jian Chen, PhD
Outcome results
None listed