Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency

Aromatic L-amino Acid Decarboxylase Deficiency Clinical Trial

Official title:

Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02399761
• Other study ID #: 201205084RIC
• Status: Completed
• Phase: N/A
• First received: March 21, 2015
• Last updated: April 26, 2017
• Start date: August 2012
• Est. completion date: July 2016

Study information

• Verified date: October 2016
• Source: National Taiwan University Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 154795
• Est. completion date: July 2016
• Est. primary completion date: July 2016
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A to 3 Months

Eligibility

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.

Related Conditions & MeSH terms

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

Locations

Country	Name	City	State
Taiwan	National Taiwan University Hospital	Taipei

Sponsors (1)

Lead Sponsor	Collaborator
National Taiwan University Hospital

Country where clinical trial is conducted

Taiwan, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of newborns with AADC deficiency		3 years