Study on the Neonatal Screening of Spinal Muscular Atrophy

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Maximum Age: 14 days
Healthy Volunteers: t
View:

• 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.

Locations
Other Locations
Taiwan
Kaohsiung Medical University Chung-Ho Memorial Hospital
RECRUITING
Kaohsiung City
Contact Information
Primary
Yun-Hui Chou
wendychoucrn@gmail.com
+886972977320
Time Frame
Start Date: 2017-09-01
Estimated Completion Date: 2030-12-31
Participants
Target number of participants: 250000
Sponsors
Collaborators: Taipei Institute of Pathology, The Chinese Foundation of Health
Leads: Kaohsiung Medical University Chung-Ho Memorial Hospital

This content was sourced from clinicaltrials.gov