A Registered Cohort Study on SMA

Wan-Jin Chen

Status: Enrolling

Conditions: Spinal Muscular Atrophy

Study type: Observational

Funder types: Other

Identifiers

NCT04010604

MRCTA,ECFAHOFFMU[2019]196

Details and patient eligibility

About

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.

Enrollment: 2,000 estimated patients

Sex: All

Ages: 1 week to 70 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

2,000 participants in 6 patient groups

SMA type I

SMA type II

SMA type III

Asymptomatic carriers of SMA

Relatives of SMA patients and carriers

Unrelated healthy controls