Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency
Completed
- Conditions
- Aromatic L-amino Acid Decarboxylase Deficiency
- Registration Number
- NCT02399761
- Lead Sponsor
- National Taiwan University Hospital
- 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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 154795
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.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Number of newborns with AADC deficiency 3 years
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
National Taiwan University Hospital
🇨🇳Taipei, Taiwan
National Taiwan University Hospital🇨🇳Taipei, Taiwan