NCT02952482

Newborn Screening for Adrenoleukodystrophy

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 45,796 (actual)
• Sponsor: National Taiwan University Hospital · Academic / Other
• Sex: All
• Age: 2 Days – 3 Months
• Healthy volunteers: Accepted

Summary

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)

Detailed 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.

Conditions

• Adrenoleukodystrophy

Interventions

Type	Name	Description
PROCEDURE	newborns testing for ALD	Routine newborn screening dried blood spots sample is used to test if elevation of C26:0-lyso-PC

Timeline

• Start date: 2016-11-01
• Primary completion: 2017-08-01
• Completion: 2017-08-01
• First posted: 2016-11-02
• Last updated: 2018-07-12

Locations

1 site across 1 country: Taiwan