Newborn Screening for Spinal Muscular Atrophy
Last updated on April 2022Recruitment
- Recruitment Status
- Completed
- Estimated Enrollment
- 60000
Inclusion Criteria
- Parents or Legal Guardian sign in the informed consent form.
- 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.
- Babies born in Taiwan receive regular new born screening suggested by Ministry of Heath and Welfare.
Exclusion Criteria
- Parents or Legal Guardian do not agree to sign in the informed consent form.
- Parents or Legal Guardian do not agree to sign in the informed consent form.
Summary
- Conditions
- Spinal Muscular Atrophy
- Type
- Observational
- Design
- Observational Model: Cohort
- Time Perspective: Prospective
Participation Requirements
- Age
- Younger than 3 years
- Gender
- Both males and females
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 methol...
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.
Inclusion Criteria
- Parents or Legal Guardian sign in the informed consent form.
- 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.
- Babies born in Taiwan receive regular new born screening suggested by Ministry of Heath and Welfare.
Exclusion Criteria
- Parents or Legal Guardian do not agree to sign in the informed consent form.
- Parents or Legal Guardian do not agree to sign in the informed consent form.
Tracking Information
- NCT #
- NCT02123186
- Collaborators
- Not Provided
- Investigators
- Principal Investigator: Yin-Hsiu Chien, M.D., PhD. National Taiwan University Hospital
- Yin-Hsiu Chien, M.D., PhD. National Taiwan University Hospital
Get Well Soon