An observational study in Aromatic L-amino Acid Decarboxylase Deficiency, sponsored by National Taiwan University Hospital. Completed at 1 site in Taiwan. Open to participants aged Up to 3 Months, including healthy volunteers. Per ClinicalTrials.gov, last updated 2017-04-28.
Sponsored by National Taiwan University Hospital · Observational
Parents of newborns will be invited to test if their newborns are affected with Aromatic L-amino Acid Decarboxylase (AADC) deficiency.
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.
29 studies on the registry are indexed under Amino Acid Metabolism, Inborn Errors; 8 are open to participants now.
This study's enrollment of 154,795 is above the median of 60 across 11 observational studies indexed under Amino Acid Metabolism, Inborn Errors.
Browse Amino Acid Metabolism, Inborn Errors studies →National Taiwan University Hospital is the lead sponsor of 2,563 studies on the registry; 569 are open to participants now.
Of its 11 completed or terminated interventional studies of FDA-regulated products, 2 (18%) have results posted.
Counted across the registry records on this site, refreshed daily.
newborns whose parents agree to be tested
Exclusion Criteria:
Number of newborns with AADC deficiency
Time frame: 3 years
This study is completed, as verified in Oct 2016. You cannot join it, but the record below documents what was studied.
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Amino Acid Metabolism, Inborn Errors→
National Taiwan University Hospital