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Confirmatory Testing

DIAGNOSTIC_TEST2 trials

Sponsors

RTI International, Albert Einstein College of Medicine

Conditions

17 Alpha-Hydroxylase Deficiency3-Hydroxy-3-Methylglutaric Aciduria3-Hydroxyacyl-CoA Dehydrogenase Deficiency3-Methylcrotonyl CoA Carboxylase 1 Deficiency3-Methylcrotonyl CoA Carboxylase 2 Deficiency3-Phosphoglycerate Dehydrogenase DeficiencyAcid Sphingomyelinase DeficiencyAcrodermatitis Enteropathica

Unknown Phase

Early Check: Expanded Screening in Newborns
Active, not recruitingNCT03655223
RTI International17 Alpha-Hydroxylase Deficiency, 3-Hydroxy-3-Methylglutaric Aciduria, 3-Hydroxyacyl-CoA Dehydrogenase Deficiency +182
Start: 2018-10-15End: 2026-12-31Target: 30000Updated: 2026-07-01
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
Enrolling by invitationNCT05368038
Albert Einstein College of MedicineAcid Sphingomyelinase Deficiency, Cerebrotendinous Xanthomatosis, Ceroid Lipofuscinosis, Neuronal, 2 +11
Start: 2021-05-10End: 2029-08-31Target: 100000Updated: 2026-07-28

Related Papers

Using a Patient Portal to Increase Enrollment in a Newborn Screening Research Study: Observational Study
JMIR Pediatrics and Parenting2022-02-1010 citations
Early Check: translational science at the intersection of public health and newborn screening.
2019-07-1733 citations