deltatrials
Enrolling By Invitation NCT03655223

Early Check: Expanded Screening in Newborns

Early Check: A Collaborative Innovation to Facilitate Pre-Symptomatic Clinical Trials in Newborns

Sponsor: Asuragen, Inc.

Conditions 17 Alpha-Hydroxylase Deficiency 3-Hydroxy-3-Methylglutaric Aciduria 3-Hydroxyacyl-CoA Dehydrogenase Deficiency 3-Methylcrotonyl CoA Carboxylase 1 Deficiency 3-Methylcrotonyl CoA Carboxylase 2 Deficiency 3-Phosphoglycerate Dehydrogenase Deficiency Acrodermatitis Enteropathica Adenine Phosphoribosyltransferase Deficiency Adrenocorticotropic Hormone Deficiency Adrenoleukodystrophy, Neonatal Agat Deficiency Alport Syndrome, Autosomal Recessive Alport Syndrome, X-Linked Angelman Syndrome Apparent Mineralocorticoid Excess Argininosuccinic Aciduria Ataxia With Isolated Vitamin E Deficiency Autosomal Recessive Nonsyndromic Hearing Loss Barth Syndrome Beta-Thalassemia Beta-ketothiolase Deficiency Biotin-Responsive Basal Ganglia Disease Biotinidase Deficiency CBAS1 Canavan Disease Carbamoyl Phosphate Synthetase I Deficiency Disease Carbonic Anhydrase VA Deficiency Carnitine Palmitoyl Transferase 1A Deficiency Carnitine Palmitoyltransferase II Deficiency Carnitine-acylcarnitine Translocase Deficiency CblF Central Hypoventilation Syndrome With or Without Hirschsprung Disease Cerebrotendinous Xanthomatoses Chronic Granulomatous Disease Citrullinemia, Type I Combined Immunodeficiency Due to ZAP70 Deficiency Congenital Bile Acid Synthesis Defect Type 2 Congenital Disorder of Glycosylation Type 1B Congenital Hypothyroidism Congenital Isolated Thyroid Stimulating Hormone Deficiency Congenital Lipoid Adrenal Hyperplasia Due to STAR Deficiency Creatine Transporter Deficiency Cystic Fibrosis Cystinosis DIAR1 Developmental and Epileptic Encephalopathy 2 Diabetes Mellitus Diabetes Mellitus, Permanent Neonatal Diabetes Mellitus, Permanent Neonatal, With Neurologic Features Dihydropteridine Reductase Deficiency Dravet Syndrome Duchenne Muscular Dystrophy Epilepsy, Early-Onset, Vitamin B6-Dependent Factor VII Deficiency Factor X Deficiency Fragile X - Premutation Fragile X Syndrome Fructose 1,6 Bisphosphatase Deficiency G6PD Deficiency GSD1C Galactokinase Deficiency Galactosemias Glucose Transporter Type 1 Deficiency Syndrome Glutaryl-CoA Dehydrogenase Deficiency Glutathione Synthetase Deficiency Glycogen Storage Disease IC Glycogen Storage Disease II Glycogen Storage Disease IXB Glycogen Storage Disease IXC Glycogen Storage Disease Type I Glycogen Storage Disease Type IB Glycogen Storage Disease Type IXA1 Glycogen Storage Disease, Type IXA2 Gtp Cyclohydrolase I Deficiency Guanidinoacetate Methyltransferase Deficiency HSDB Hemophilia A Hemophilia B Hereditary Fructose Intolerance Hereditary Hypophosphatemic Rickets Hermansky-Pudlak Syndrome 1 Hermansky-Pudlak Syndrome 4 Holocarboxylase Synthetase Deficiency Homocystinuria Hyperargininemia Hyperinsulinemic Hypoglycemia, Familial 1 Hyperinsulinemic Hypoglycemia, Familial, 2 Hyperinsulinism-Hyperammonemia Syndrome Hypophosphatasia Hypothyroidism Due to TSH Receptor Mutations Intrinsic Factor Deficiency Isovaleric Acidemia Jervell and Lange-Nielsen Syndrome 1 Jervell and Lange-Nielsen Syndrome 2 Krabbe Disease Leber Congenital Amaurosis 2 Liddle Syndrome Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency Lysosomal Acid Lipase Deficiency MAHCD MOWS Maple Syrup Urine Disease, Type 1A Maple Syrup Urine Disease, Type 1B Maple Syrup Urine Disease, Type 2 Medium-chain Acyl-CoA Dehydrogenase Deficiency Menkes Disease Metachromatic Leukodystrophy Methylcobalamin Deficiency Type Cbl G (Disorder) Methylcobalamin Deficiency Type cblE Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency Methylmalonic Aciduria and Homocystinuria Type cblC Methylmalonic Aciduria cblA Type Methylmalonic Aciduria cblB Type Mitochondrial Trifunctional Protein Deficiency Molybdenum Cofactor Deficiency, Type A Mthfr Deficiency Mucopolysaccharidosis Type 1 Mucopolysaccharidosis Type 2 Mucopolysaccharidosis Type 3 A Mucopolysaccharidosis Type 6 Mucopolysaccharidosis Type 7 Mucopolysaccharidosis Type IV A Multiple Endocrine Neoplasia Type 2B N-acetylglutamate Synthase Deficiency Neonatal Severe Primary Hyperparathyroidism Niemann-Pick Disease Type A Niemann-Pick Disease Type C2 Niemann-Pick Disease, Type C1 Ornithine Aminotransferase Deficiency Ornithine Transcarbamylase Deficiency Ornithine Translocase Deficiency Pancreatic Agenesis 1 Permanent Neonatal Diabetes Mellitus Phenylketonurias Pitt Hopkins Syndrome Pituitary Hormone Deficiency, Combined, 1 Prader-Willi Syndrome Primary Hyperoxaluria Type 1 Primary Hyperoxaluria Type 2 Primary Hyperoxaluria Type 3 Propionic Acidemia Pseudohypoaldosteronism, Type I Ptsd Pyridoxal Phosphate-Responsive Seizures Pyridoxine-Dependent Epilepsy Retinoblastoma Rett Syndrome Riboflavin Transporter Deficiency SCD SRD Segawa Syndrome, Autosomal Recessive Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency Severe Combined Immunodeficiency Due to DCLRE1C Deficiency Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiency Severe Combined Immunodeficiency Due to RAG1 Deficiency Severe Combined Immunodeficiency Due to RAG2 Deficiency Severe Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder) Severe Combined Immunodeficiency, X Linked Sickle Cell Disease Smith-Lemli-Opitz Syndrome Spinal Muscular Atrophy Stickler Syndrome Type 1 Stickler Syndrome Type 2 Supravalvar Aortic Stenosis Thyroid Dyshormonogenesis 1 Thyroid Dyshormonogenesis 2A Thyroid Dyshormonogenesis 3 Thyroid Dyshormonogenesis 5 Thyroid Dyshormonogenesis 6 Transcobalamin II Deficiency Transient Neonatal Diabetes Mellitus Tuberous Sclerosis 1 Tuberous Sclerosis 2 Tyrosinemia, Type I Usher Syndrome Type 1C Usher Syndrome Type 1D/F Digenic (Diagnosis) Usher Syndrome Type 1G (Diagnosis) Usher Syndrome, Type 1B Usher Syndrome, Type 1F Very Long Chain Acyl Coa Dehydrogenase Deficiency Von Willebrand Disease, Type 3 Waardenburg Syndrome Type 1 Waardenburg Syndrome Type 2A Waardenburg Syndrome, Type 2E Wilson Disease
Interventions Confirmatory Testing
Updated 15 times since 2018 Last updated: Mar 31, 2025 Started: Oct 15, 2018 Primary completion: Nov 30, 2025 Completion: Dec 31, 2025

Listed as NCT03655223, this observational or N/A phase trial focuses on 17 Alpha-Hydroxylase Deficiency and 3-Hydroxy-3-Methylglutaric Aciduria and remains ongoing. Sponsored by Asuragen, Inc., it has been updated 15 times since 2018, reflecting substantial change activity. Mental health research at this phase helps define safety and dosing parameters for future study.

Change History

15 versions recorded

  1. May 2025 — Present [monthly]

    Enrolling By Invitation

  2. Sep 2024 — May 2025 [monthly]

    Enrolling By Invitation

  3. Jul 2024 — Sep 2024 [monthly]

    Enrolling By Invitation

  4. Apr 2024 — Jul 2024 [monthly]

    Enrolling By Invitation

  5. Jun 2023 — Apr 2024 [monthly]

    Enrolling By Invitation

▶ Show 10 earlier versions

  1. Nov 2022 — Jun 2023 [monthly]

    Enrolling By Invitation

  2. Mar 2022 — Nov 2022 [monthly]

    Enrolling By Invitation

  3. Dec 2021 — Mar 2022 [monthly]

    Enrolling By Invitation

  4. Apr 2021 — Dec 2021 [monthly]

    Enrolling By Invitation

  5. Jan 2021 — Apr 2021 [monthly]

    Enrolling By Invitation

  6. Dec 2020 — Jan 2021 [monthly]

    Enrolling By Invitation

  7. Nov 2020 — Dec 2020 [monthly]

    Enrolling By Invitation

  8. Jan 2020 — Nov 2020 [monthly]

    Enrolling By Invitation

  9. Jan 2019 — Jan 2020 [monthly]

    Enrolling By Invitation

    Status: Not Yet Recruiting → Enrolling By Invitation

  10. Sep 2018 — Jan 2019 [monthly]

    Not Yet Recruiting

    First recorded

Eligibility Summary

No eligibility information available.

Contact Information

Sponsor contact:
  • Asuragen, Inc.
  • Cure SMA
  • Duke University
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  • GeneDx
  • Illumina, Inc.
  • Janssen Pharmaceuticals
  • Juvenile Diabetes Research Foundation
  • Muscular Dystrophy Association
  • National Center for Advancing Translational Sciences (NCATS)
  • North Carolina Department of Health and Human Services
  • RTI International
  • Sarepta Therapeutics, Inc.
  • The John Merck Fund
  • The Leona M. and Harry B. Helmsley Charitable Trust
  • The National Fragile X Foundation
  • University of North Carolina, Chapel Hill
  • Wake Forest University
Data source: RTI International

For direct contact, visit the study record on ClinicalTrials.gov .

Study Locations

  • • Research Triangle Park, United States