Neonatal Spinal Muscular Atrophy (SMA) Screening

Recruiting now

Conditions studied: Spinal Muscular Atrophy

In brief

Parents or legal guardian of neonates who signed agreement will receive SMA screening test if their neonates are affected with SMA. The dried blood spots of routine newborn screening samples will be used to test if neonates have lost 2 copies of SMN1 gene. If neonates have positive SMA screening test, further confirmation with multiplex ligation-dependent probe amplification (MLPA) test and prospective motor function monitoring including physical and neurological examinations will be proved to make SMA confirmation. For any confirmed SMA patient, genetic counseling and standard of care will be proved.

Key facts

Study ID

NCT03217578

Run by

Kaohsiung Medical University Chung-Ho Memorial Hospital

People needed

250000

Starts

2017-09-01

Expected to finish

2030-12-31

Last updated by the study team

2024-02-16

Who can join

Age: any, up to 0. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• Neonates born in Taiwan who receive regular newborn screening suggested by Ministry of Heath and Welfare.
• Parents or legal guardian agree to perform SMA newborn screening.

You may not qualify if…

• Parents or legal guardian do not agree to perform SMA newborn screening.

Where it is running

• Kaohsiung Medical University Chung-Ho Memorial Hospital — Kaohsiung City, Taiwan (enrolling)

Full record on ClinicalTrials.gov

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