Adrenoleukodystrophy
Conditions
Keywords
adrenoleukodystrophy, C26:0-lyso-PC
Brief 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.
Interventions
PROCEDUREnewborns testing for ALD
Routine newborn screening dried blood spots sample is used to test if elevation of C26:0-lyso-PC
Sponsors
National Taiwan University Hospital
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
2 Days to 3 Months
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| numbers of newborn with ALD | 12 months |
Countries
Taiwan
Outcome results
None listed