Aromatic L-amino Acid Decarboxylase Deficiency Clinical Trial
Official title:
Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency
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. ;
Status | Clinical Trial | Phase | |
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Recruiting |
NCT05687474 -
Baby Detect : Genomic Newborn Screening
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Recruiting |
NCT05211609 -
Prevalence of High Plasmatic 3OMethyldopa Level in a Specific Population of Patients With a Symptomatology Compatible With AADC Deficiency
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N/A |