Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency
Information source: National Taiwan University Hospital
ClinicalTrials.gov processed this data on August 23, 2015
Link to the current ClinicalTrials.gov record.
Condition(s) targeted: Aromatic L-amino Acid Decarboxylase Deficiency
Phase: N/A
Status: Recruiting
Sponsored by: National Taiwan University Hospital Overall contact:
Yin-Hsiu Chien, Phone: 886223123456, Ext: 71937, Email: chienyh@ntu.edu.tw
Summary
Parents of newborns will be invited to test if their newborns are affected with Aromatic
L-amino Acid Decarboxylase (AADC) deficiency.
Clinical Details
Official title: Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency
Study design: Observational Model: Cohort, Time Perspective: Prospective
Primary outcome: Number of newborns with 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.
Eligibility
Minimum age: N/A.
Maximum age: 3 Months.
Gender(s): Both.
Criteria:
Inclusion Criteria:
- Babies born in Taiwan receive regular new born screening suggested by Ministry of
Heath and Welfare.
- Parents or Legal Guardian sign in the informed consent form.
Exclusion Criteria:
- Parents or Legal Guardian do not agree to sign in the informed consent form.
Locations and Contacts
Yin-Hsiu Chien, Phone: 886223123456, Ext: 71937, Email: chienyh@ntu.edu.tw
National Taiwan University Hospital, Taipei 100, Taiwan; Recruiting
Additional Information
Starting date: August 2012
Last updated: March 25, 2015
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