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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

An observational study to find the correlation between the variation in copy numbers of Survival motor gene 2 and clinical phenotypes of children with spinomuscular atrophy

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
CTRI
Registry ID
CTRI/2022/07/043625
Enrollment
30
Registered
2022-07-01
Start date
Unknown
Completion date
Unknown
Last updated
2022-08-02

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Health Condition 1: G958- Other specified diseases of spinalcord

Interventions

None listed

Sponsors

SMS Medical college jaipur
Lead Sponsor

Eligibility

Inclusion criteria

Inclusion criteria: 1.Diagnosed cases of SMA between age group from birth to 18 years

Exclusion criteria

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

Design outcomes

Primary

MeasureTime frame
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

MeasureTime frame
To assess the prognosis and to aid in genetic counsellingTimepoint: 1 year—

Countries

India

Contacts

Public ContactMahantesh bukanatti

SMS medical college

priyanshu82@gmail.com09982451490

Outcome results

None listed

Source: CTRI (via WHO ICTRP) · Data processed: Feb 4, 2026