Newborn Screening for Adrenoleukodystrophy

National Taiwan University

Status: Completed

Conditions: Adrenoleukodystrophy

Treatments: Procedure: newborns testing for ALD

Study type: Observational

Funder types: Other

Identifiers

NCT02952482

201603025RIND

Details and patient eligibility

About

To test if the routine newborn screening dried blood spots can be used to test if elevation of C26:0 lysophosphatidylcholine (C26:0-lyso-PC), a status indicating adrenoleukodystrophy (ALD)

Full description

Parents of newborns will be invited to test if their newborns are affected with ALD. The routine newborn screening dried blood spots sample will be used to test the concentration of C26:0-lyso-PC . If positive of a screening test, further confirmation tests including physical examination and other methodology for ALD confirmation will be provided. Genetic counseling and treatment option will be provided, too.

Enrollment: 45,796 patients

Sex: All

Ages: 2 days to 3 months old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Babies born in Taiwan receive regular newborn 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.

Trial design

45,796 participants in 1 patient group

newborns testing for ALD

Description:

newborns testing for ALD

Treatment:

Procedure: newborns testing for ALD