A Registered Cohort Study on SMA
1 other identifier
observational
2,000
1 country
1
Brief 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Jul 2019
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
July 1, 2019
CompletedStudy Start
First participant enrolled
July 1, 2019
CompletedFirst Posted
Study publicly available on registry
July 8, 2019
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 31, 2039
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 31, 2049
September 23, 2019
September 1, 2019
20.5 years
July 1, 2019
September 19, 2019
Conditions
Outcome Measures
Primary Outcomes (2)
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
Study Arms (6)
SMA type I
SMA type II
SMA type III
Asymptomatic carriers of SMA
Relatives of SMA patients and carriers
Unrelated healthy controls
Eligibility Criteria
SMA patients are diagnosed with SMN1 gene deletion or mutation.
You may qualify if:
- 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
You may not qualify if:
- \* Participants are unable to comply with trial procedures and visit schedule
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Wan-Jin Chenlead
Study Sites (1)
Department of Neurology, First Affiliated Hospital Fujian Medical University
Fuzhou, Fujian, 350005, China
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR INVESTIGATOR
- PI Title
- The Vice-Director for the Department of Neurology
Study Record Dates
First Submitted
July 1, 2019
First Posted
July 8, 2019
Study Start
July 1, 2019
Primary Completion (Estimated)
December 31, 2039
Study Completion (Estimated)
December 31, 2049
Last Updated
September 23, 2019
Record last verified: 2019-09
Data Sharing
- IPD Sharing
- Will not share