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