Newborn Screening for Spinal Muscular Atrophy

National Taiwan University

Status: Completed

Conditions: Spinal Muscular Atrophy

Treatments: Other: newborn screening test for SMA

Study type: Observational

Funder types: Other

Identifiers

NCT02123186

201308058RIND

Details and patient eligibility

About

To test if the routine newborn screening dried blood spots can be used to test if missing 2 copies of SMN1 gene, a status indicating spinal muscular atrophy

Full description

Parents of newborns will be invited to test if their newborns are affected with SMA. The routine newborn screening dried blood spots sample will be used to test if missing 2 copies of SMN1 gene. If positive of screening test, further confirmation tests including physical examination and other methology for SMN1 gene copies quantification will be provided. Genetic counseling and treatment option will be provided, too.

Enrollment: 120,267 patients

Sex: All

Ages: 2 days to 3 months old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Babies born in Taiwan receive regular new born screening suggested by Ministry of Heath and Welfare.
• Parents or Legal Guardian sign in the informed consent form.

Exclusion criteria

• Parents or Legal Guardian do not agree to sign in the informed consent form.

Trial design

120,267 participants in 1 patient group

newborns testing for SMA

Treatment:

Other: newborn screening test for SMA