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Neonatal Spinal Muscular Atrophy (SMA) Screening

NCT03217578 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 250000

Last updated 2024-02-16

No results posted yet for this study

Summary

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.

Conditions

Interventions

OTHER

SMA Newborn Screening

Sponsors & Collaborators

  • The Chinese Foundation of Health

    collaborator UNKNOWN

  • Taipei Institute of Pathology

    collaborator OTHER_GOV

  • Kaohsiung Medical University Chung-Ho Memorial Hospital

    lead OTHER

Eligibility

Min Age
0 Weeks
Max Age
2 Weeks
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2017-09-01
Primary Completion
2030-12-31
Completion
2030-12-31

Countries

  • Taiwan

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03217578 on ClinicalTrials.gov