A Registered Cohort Study on Spinal Muscular Atrophy

Status: Recruiting
Location: See location...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 7 days
Maximum Age: 70
Healthy Volunteers: t
View:

• 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

Locations
Other Locations
China
Department of Neurology, First Affiliated Hospital Fujian Medical University
RECRUITING
Fuzhou
Contact Information
Primary
Yi Lin, PhD
linyi7811@163.com
86-0591-87982772
Backup
Wan-Jian Chen, PhD
wanjinchen75@fjmu.edu.cn
86-0591-87982772
Time Frame
Start Date: 2019-07-01
Estimated Completion Date: 2049-12-31
Participants
Target number of participants: 2000
Treatments
SMA type I
SMA type II
SMA type III
Asymptomatic carriers of SMA
Relatives of SMA patients and carriers
Unrelated healthy controls
Sponsors
Leads: Wan-Jin Chen

This content was sourced from clinicaltrials.gov