An observational study in Spinal Muscular Atrophy, sponsored by Kaohsiung Medical University Chung-Ho Memorial Hospital. Recruiting at 1 site in Taiwan. Open to participants aged 0 Weeks to 2 Weeks, including healthy volunteers. Per ClinicalTrials.gov, last updated 2024-02-16.
Sponsored by Kaohsiung Medical University Chung-Ho Memorial Hospital · Observational
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.
494 studies on the registry are indexed under Muscular Atrophy; 94 are open to participants now.
This study's planned enrollment of 250,000 is above the median of 72 across 139 observational studies indexed under Muscular Atrophy.
Browse Muscular Atrophy studies →Kaohsiung Medical University Chung-Ho Memorial Hospital is the lead sponsor of 281 studies on the registry; 57 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Neonates whose parents agree to be tested.
Exclusion Criteria:
Parents or legal guardian do not agree to perform SMA newborn screening.
Number of neonates with confirmed the deletion of 2 copies of SMN1 gene
Neonates with positive SMA newborn screening will be confirmed by multiplex ligation-dependent probe amplification (MLPA) test
Time frame: 3 years
Number of neonates with confirmed SMA
Neonates with confirmed the deletion of 2 copies of SMN1 gene by MLPA test will be followed till SMA symptoms appear.
Time frame: 3 years
Plan to share: No — There is not a plan to make IPD available
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Kaohsiung Medical University Chung-Ho Memorial Hospital