A Registered Cohort Study on SMA

Spinal Muscular Atrophy Clinical Trial

Official title:

A Registered Cohort Study on Spinal Muscular Atrophy

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04010604
• Other study ID #: MRCTA,ECFAHOFFMU[2019]196
• Status: Recruiting
• Start date: July 1, 2019
• Est. completion date: December 31, 2049

Study information

• Verified date: September 2019
• Source: First Affiliated Hospital of Fujian Medical University
• Contact: Yi Lin, PhD
• Phone: 86-0591-87982772
• Email: linyi7811[@]163.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 2000
• Est. completion date: December 31, 2049
• Est. primary completion date: December 31, 2039
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A to 70 Years

Eligibility

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

Related Conditions & MeSH terms

• Atrophy
• Muscular Atrophy
• Muscular Atrophy, Spinal
• Spinal Muscular Atrophy

Locations

Country	Name	City	State
China	Department of Neurology, First Affiliated Hospital Fujian Medical University	Fuzhou	Fujian

Sponsors (1)

Lead Sponsor	Collaborator
Wan-Jin Chen

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	The time to death		From date of enrollment until the date of death from any cause, assessed up to 20years
Primary	The correlation of genotype and phenotype	Genotype is defined by survival motor neuron (SMN) 2 copy number(s) and phenotype is defined by clinical types and characteristics.	From date of enrollment until the date of death from any cause, assessed up to 20years