NCT02399761

Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 154,795 (actual)
• Sponsor: National Taiwan University Hospital · Academic / Other
• Sex: All
• Age: 3 Months
• Healthy volunteers: Accepted

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.

Conditions

• Aromatic L-amino Acid Decarboxylase Deficiency

Timeline

• Start date: 2012-08-01
• Primary completion: 2016-07-01
• Completion: 2016-07-01
• First posted: 2015-03-26
• Last updated: 2017-04-28

Locations

1 site across 1 country: Taiwan