A Registered Cohort Study on SMA

study id #: NCT04010604

condition: Spinal Muscular Atrophy

status: Recruiting

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.

results: https://clinicaltrials.gov/ct2/show/results/NCT04010604

last updated: February 04, 2022

start date: July 1, 2019

estimated completion: December 31, 2049

last updated: September 23, 2019

size / enrollment: 2000

primary outcomes:

• 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
  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
  

inclusion criteria:

exclusion criteria: Criteria:

* Participants are unable to comply with trial procedures and visit schedule

sponsor: Wan-Jin Chen

contacts: Yi Lin, PhD, 86-0591-87982772, linyi7811@163.com

trial center locations: China

• A Registered Cohort Study on SMA
  Wan-Jin Chen, PhD, 86-0591-87982772, wanjinchen75@fjmu.edu.cn