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Clinical Trial Summary

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


Clinical Trial 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. ;


Study Design


Related Conditions & MeSH terms

  • Amino Acid Metabolism, Inborn Errors
  • Aromatic L-amino Acid Decarboxylase Deficiency

NCT number NCT02399761
Study type Observational
Source National Taiwan University Hospital
Contact
Status Completed
Phase N/A
Start date August 2012
Completion date July 2016

See also
  Status Clinical Trial Phase
Recruiting NCT05687474 - Baby Detect : Genomic Newborn Screening
Recruiting NCT05211609 - Prevalence of High Plasmatic 3OMethyldopa Level in a Specific Population of Patients With a Symptomatology Compatible With AADC Deficiency N/A