Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02399761

Enrollment

154795

Registered

2015-03-26

Start date

2012-08-31

Completion date

2016-07-31

Last updated

2017-04-28

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Aromatic L-amino Acid Decarboxylase Deficiency

Keywords

AADC deficiency, newborn screening

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

No minimum to 3 Months

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.

Design outcomes

Primary

Measure	Time frame
Number of newborns with AADC deficiency	3 years

Countries

Taiwan

Outcome results