NCT02399761CompletedNot Applicable
Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency
National Taiwan University Hospital1 site in 1 country154,795 target enrollmentStarted: August 2012Last updated:
Conditions
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Enrollment
- 154,795
- Locations
- 1
- Primary Endpoint
- Number of newborns with AADC deficiency
Study Overview
Brief Summary
Parents of newborns will be invited to test if their newborns are affected with Aromatic L-amino Acid Decarboxylase (AADC) deficiency.
Detailed Description
Parents of newborns will be invited to test if their newborns are affected with Aromatic L-amino Acid Decarboxylase (AADC) deficiency. The routine newborn screening dried blood spots sample will be used to test if 3-O-methyldopa (3-OMD) concentration elevates. If positive of screening test, further confirmation tests including physical examination and for mutation. Genetic counseling and treatment option will be provided, too.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- — to 3 Months (Child)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
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.
Outcomes
Primary Outcomes
Number of newborns with AADC deficiency
Time Frame: 3 years
Secondary Outcomes
No secondary outcomes reported
Investigators
Study Sites (1)
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