A Registered Cohort Study on SMA
ConditionSpinal Muscular Atrophy
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1-70
SponsorWan-Jin Chen
About this trial
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 criteria
This trial accepts healthy volunteersQualifiers
Patients with SMA types I, II and III
Asymptomatic SMA carriers
Relatives of SMA patients or carriers
Unrelated healthy controls
Disqualifiers
None
Trial population
SMA patients are diagnosed with SMN1 gene deletion or mutation.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
2,000 Participants
are grouped into 6 trial groups6
Trial groupsSee each trial group below.
Group A: SMA type I
Group B: SMA type II
Group C: SMA type III
Group D: Asymptomatic carriers of SMA
Group E: Relatives of SMA patients and carriers
Group F: Unrelated healthy controls
Trial outcomes
Primary outcomes
1
The time to death
Time frame
From date of enrollment until the date of death from any cause, assessed up to 20years2
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.
Time frame
From date of enrollment until the date of death from any cause, assessed up to 20yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Wan-Jin Chen
Lead sponsor
First Affiliated Hospital of Fujian Medical University
Sponsor institution
Source ClinicalTrials.gov