Neonatal Spinal Muscular Atrophy (SMA) Screening
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: SMA Newborn Screening.
- Who it may be relevant to
- Registry conditions: Spinal Muscular Atrophy. Basic parameters: 0 Weeks — 2 Weeks · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Taiwan
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Study on the Neonatal Screening of Spinal Muscular Atrophy
Overview
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.
Interventions
- Other SMA Newborn Screening
Primary outcome measures
- Number of neonates with confirmed the deletion of 2 copies of SMN1 gene [Time frame: 3 years]
Secondary outcome measures (1)
- Number of neonates with confirmed SMA [Time frame: 3 years]
Eligibility criteria
Inclusion criteria
- 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.
Exclusion criteria
Parents or legal guardian do not agree to perform SMA newborn screening.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
Taiwan · 1 center
- Kaohsiung Medical University Chung-Ho Memorial Hospital — Kaohsiung City
Identifiers
NCT: NCT03217578 · SMA-NBS001