Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency

NCT ID: NCT02399761

Last Updated: 2017-04-28

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

154795 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-08-31

Study Completion Date

2016-07-31

Brief Summary

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

Detailed Description

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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.

Conditions

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Aromatic L-amino Acid Decarboxylase Deficiency

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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.
Maximum Eligible Age

3 Months

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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National Taiwan University Hospital

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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National Taiwan University Hospital

Taipei, , Taiwan

Site Status

Countries

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Taiwan

Other Identifiers

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201205084RIC

Identifier Type: -

Identifier Source: org_study_id

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