A study to find the correlation between the variation in copy numbers of SMN 2 gene and clinical phenotypes of children with spinal muscular atrophy
Not Applicable
- Conditions
- Health Condition 1: G958- Other specified diseases of spinalcord
- Registration Number
- CTRI/2022/07/043625
- Lead Sponsor
- SMS Medical college jaipur
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ot Yet Recruiting
- Sex
- Not specified
- Target Recruitment
- 0
Inclusion Criteria
1.Diagnosed cases of SMA between age group from birth to 18 years
Exclusion Criteria
1.Associated other neurological, muscular and genetic diseases
2.Age more than 18 years
3.Those who give negative consent
4.Already on treatment
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method To assess the Correlation between the copy number variation of SMN2 gene and the clinical phenotypes of Spinal muscular atrophy (SMA) patientsTimepoint: During 1 year follow up
- Secondary Outcome Measures
Name Time Method To assess the prognosis and to aid in genetic counsellingTimepoint: 1 year