Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu
Help guide our efforts to modernize ClinicalTrials.gov.
Send us your comments by March 14, 2020.
Trial record 1 of 4 for:    AADC, AADC, Aromatic Amino Acid Decarboxylase Deficiency, | AADC Deficiency
Previous Study | Return to List | Next Study

Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02399761
Recruitment Status : Completed
First Posted : March 26, 2015
Last Update Posted : April 28, 2017
Sponsor:
Information provided by (Responsible Party):
National Taiwan University Hospital

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

Condition or disease
Aromatic L-amino Acid Decarboxylase 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.

Layout table for study information
Study Type : Observational
Actual Enrollment : 154795 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency
Study Start Date : August 2012
Actual Primary Completion Date : July 2016
Actual Study Completion Date : July 2016





Primary Outcome Measures :
  1. Number of newborns with AADC deficiency [ Time Frame: 3 years ]


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   up to 3 Months   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
newborns whose parents agree to be tested
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02399761


Locations
Layout table for location information
Taiwan
National Taiwan University Hospital
Taipei, Taiwan, 100
Sponsors and Collaborators
National Taiwan University Hospital

Layout table for additonal information
Responsible Party: National Taiwan University Hospital
ClinicalTrials.gov Identifier: NCT02399761    
Other Study ID Numbers: 201205084RIC
First Posted: March 26, 2015    Key Record Dates
Last Update Posted: April 28, 2017
Last Verified: October 2016
Keywords provided by National Taiwan University Hospital:
AADC deficiency, newborn screening
Additional relevant MeSH terms:
Layout table for MeSH terms
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Dopa Decarboxylase
Antiparkinson Agents
Anti-Dyskinesia Agents