Screening for Spinal Muscular Atrophy in Newborns
Study on the Neonatal Screening of Spinal Muscular Atrophy
This study is testing a new way to screen newborns in Taiwan for Spinal Muscular Atrophy to catch it early and help affected babies get the care they need.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 250000 (estimated) |
| Ages | 0 Weeks to 2 Weeks |
| Sex | All |
| Sponsor | Kaohsiung Medical University Chung-Ho Memorial Hospital Academic / other |
| Locations | 1 site (Kaohsiung City) |
| Trial ID | NCT03217578 on ClinicalTrials.gov |
What this trial studies
This observational study aims to screen neonates in Taiwan for Spinal Muscular Atrophy (SMA) using dried blood spots from routine newborn screening samples. The screening tests for the loss of 2 copies of the SMN1 gene, and if positive, further confirmation will be conducted through multiplex ligation-dependent probe amplification (MLPA) tests and motor function monitoring. Confirmed SMA patients will receive genetic counseling and standard care. The study focuses on early detection and intervention for affected infants.
Who should consider this trial
Good fit: Ideal candidates for this study are neonates born in Taiwan whose parents or legal guardians consent to SMA screening.
Not a fit: Patients whose parents or legal guardians do not agree to perform SMA newborn screening will not benefit from this study.
Why it matters
Potential benefit: If successful, this screening could lead to earlier diagnosis and management of Spinal Muscular Atrophy in newborns, improving patient outcomes.
How similar studies have performed: Other studies have shown success with similar newborn screening approaches for genetic conditions, indicating potential for effective early detection.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: 1. Neonates born in Taiwan who receive regular newborn screening suggested by Ministry of Heath and Welfare. 2. Parents or legal guardian agree to perform SMA newborn screening. Exclusion Criteria: Parents or legal guardian do not agree to perform SMA newborn screening.
Where this trial is running
Kaohsiung City
- Kaohsiung Medical University Chung-Ho Memorial Hospital — Kaohsiung City, Taiwan (Recruiting)
Study contacts
- Study coordinator: Yun-Hui Chou
- Email: wendychoucrn@gmail.com
- Phone: +886972977320
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.