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A Registered Cohort Study on SMA

A Registered Cohort Study on SMA

Recruiting
1-70 years
All
Phase N/A
  • Technical (Original)
  • Simplified (AI rewritten)

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Overview

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

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

Study details
    Spinal Muscular Atrophy

NCT04010604

Wan-Jin Chen

27 January 2024

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