Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency

National Taiwan University Hospital154,795 enrolled

Overview

Parents of newborns will be invited to test if their newborns are affected with Aromatic L-amino Acid Decarboxylase (AADC) deficiency.

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 Type

OBSERVATIONAL

Enrollment

154,795

Conditions

Aromatic L-amino Acid Decarboxylase Deficiency

Eligibility

Sex: ALLMax age: 3 MonthsHealthy volunteers:

Medical Language ↔ Plain English

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.

Locations (1)

National Taiwan University Hospital

Taipei, Taiwan

Outcomes

Primary Outcomes

Number of newborns with AADC deficiency

Time frame: 3 years

Data from ClinicalTrials.gov

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