Recruitment

Recruitment Status
Completed
Estimated Enrollment
60000

Inclusion Criterias

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 Criterias

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 Criterias

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 Criterias

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.

Locations

Taipei, Taiwan,, 100
Taipei, Taiwan,, 100

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