Newborn Screening for Adrenoleukodystrophy

National Taiwan University Hospital45,796 enrolled

Overview

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)

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.

Study Type

OBSERVATIONAL

Enrollment

45,796

Conditions

Adrenoleukodystrophy

Interventions

newborns testing for ALDPROCEDURE

Routine newborn screening dried blood spots sample is used to test if elevation of C26:0-lyso-PC

Eligibility

Sex: ALLMin age: 2 DaysMax age: 3 MonthsHealthy volunteers:

Medical Language ↔ Plain English

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.

Locations (1)

National Taiwan University Hospital

Taipei, Taiwan

Outcomes

Primary Outcomes

numbers of newborn with ALD

Time frame: 12 months

Data from ClinicalTrials.gov

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