ewborn Screening for Spinal Muscular Atrophy: A Pilot Study in Thailand

Recruiting

• Conditions: Primary objectiveTo analyze rate of Thai SMA patients identified by melting curve-based assay of 20,000 Dried Blood Spot (DBS) samples collected in Expanded Newborn Screening from hospitals in Bangkok area sent to Siriraj hospital.Primary endpoint Incidence of Thai patients with positive screening test for SMA; Newborn screening, Spinal muscular atrophy, SMA newborn screenings, NBS

• Registration Number: TCTR20240716007
• Lead Sponsor: Faculty of Medicine Siriraj Hospital, Mahidol University

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Completion: 2024-06-06
• Study Start: 2024-07-16
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 20000

Inclusion Criteria

Thai newborns in participating hospitals during the inclusion period.

Exclusion Criteria

Newborns whose parents or legally acceptable representatives do not sign informed consent form to participate in the study.

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
SMN1 exon 7 deletion and SMN2 copy number (where performed) The DBS cards will be sent to and analyzed at Siriraj Hospital within 2 days. NBS samples will be collected following the instructions of the ENS

Secondary Outcome Measures

Name	Time	Method
/A N/A N/A