Clinical Trial: Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency

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

Detailed Summary: 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.
Sponsor: National Taiwan University Hospital

Current Primary Outcome: Number of newborns with AADC deficiency [ Time Frame: 3 years ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: National Taiwan University Hospital

Dates:
Date Received: March 21, 2015
Date Started: August 2012
Date Completion:
Last Updated: April 26, 2017
Last Verified: October 2016