Clinical trial

Early Check: Expanded Screening in Newborns

NCT03655223

StatusACTIVE_NOT_RECRUITING

Study typeOBSERVATIONAL

Start date2018-10-15

PhaseN/A

Study timeline

Study start (actual)2018-10-15Date precision: day

Registry last updated2026-07-01

Observed by CureCurrent2026-10-07

Recorded dates are source observations, not predictions. Missing milestones are not estimated.

Conditions

Spinal Muscular Atrophyunresolved

Fragile X Syndromeunresolved

Fragile X - Premutationunresolved

Duchenne Muscular Dystrophyunresolved

Hyperinsulinemic Hypoglycemia, Familial 1unresolved

Diabetes Mellitusunresolved

Adrenoleukodystrophy, Neonatalunresolved

Medium-chain Acyl-CoA Dehydrogenase Deficiencyunresolved

Very Long Chain Acyl Coa Dehydrogenase Deficiencyunresolved

Beta-ketothiolase Deficiencyunresolved

Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiencyunresolved

Primary Hyperoxaluria Type 1unresolved

Congenital Bile Acid Synthesis Defect Type 2unresolved

Pyridoxine-Dependent Epilepsyunresolved

Hereditary Fructose Intoleranceunresolved

Hypophosphatasiaunresolved

Hyperargininemiaunresolved

Mucopolysaccharidosis Type 6unresolved

Argininosuccinic Aciduriaunresolved

Citrullinemia, Type Iunresolved

Wilson Diseaseunresolved

Maple Syrup Urine Disease, Type 1Aunresolved

Maple Syrup Urine Disease, Type 1Bunresolved

Biotinidase Deficiencyunresolved

Neonatal Severe Primary Hyperparathyroidismunresolved

Intrinsic Factor Deficiencyunresolved

Usher Syndrome Type 1D/F Digenic (Diagnosis)unresolved

Cystic Fibrosisunresolved

Stickler Syndrome Type 2unresolved

Stickler Syndrome Type 1unresolved

Alport Syndrome, Autosomal Recessiveunresolved

Alport Syndrome, X-Linkedunresolved

Carbamoyl Phosphate Synthetase I Deficiency Diseaseunresolved

Carnitine Palmitoyl Transferase 1A Deficiencyunresolved

Carnitine Palmitoyltransferase II Deficiencyunresolved

Cystinosisunresolved

Chronic Granulomatous Diseaseunresolved

Cerebrotendinous Xanthomatosesunresolved

Maple Syrup Urine Disease, Type 2unresolved

Severe Combined Immunodeficiency Due to DCLRE1C Deficiencyunresolved

Thyroid Dyshormonogenesis 6unresolved

Thyroid Dyshormonogenesis 5unresolved

Supravalvar Aortic Stenosisunresolved

Factor X Deficiencyunresolved

Hemophilia Aunresolved

Hemophilia Bunresolved

Tyrosinemia, Type Iunresolved

Fructose 1,6 Bisphosphatase Deficiencyunresolved

Glycogen Storage Disease Type Iunresolved

G6PD Deficiencyunresolved

Glycogen Storage Disease IIunresolved

Galactokinase Deficiencyunresolved

Mucopolysaccharidosis Type IV Aunresolved

Galactosemiasunresolved

Guanidinoacetate Methyltransferase Deficiencyunresolved

Agat Deficiencyunresolved

Glutaryl-CoA Dehydrogenase Deficiencyunresolved

Gtp Cyclohydrolase I Deficiencyunresolved

Hyperinsulinism-Hyperammonemia Syndromeunresolved

Primary Hyperoxaluria Type 2unresolved

3-Hydroxyacyl-CoA Dehydrogenase Deficiencyunresolved

Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiencyunresolved

Mitochondrial Trifunctional Protein Deficiencyunresolved

Sickle Cell Diseaseunresolved

Beta-Thalassemiaunresolved

Holocarboxylase Synthetase Deficiencyunresolved

3-Hydroxy-3-Methylglutaric Aciduriaunresolved

Primary Hyperoxaluria Type 3unresolved

Hermansky-Pudlak Syndrome 1unresolved

Hermansky-Pudlak Syndrome 4unresolved

Apparent Mineralocorticoid Excessunresolved

HSDBunresolved

CBAS1unresolved

Mucopolysaccharidosis Type 2unresolved

Mucopolysaccharidosis Type 1unresolved

Severe Combined Immunodeficiency, X Linkedunresolved

Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiencyunresolved

Diabetes Mellitus, Permanent Neonatalunresolved

Isovaleric Acidemiaunresolved

Severe Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder)unresolved

Jervell and Lange-Nielsen Syndrome 2unresolved

Hyperinsulinemic Hypoglycemia, Familial, 2unresolved

Diabetes Mellitus, Permanent Neonatal, With Neurologic Featuresunresolved

Jervell and Lange-Nielsen Syndrome 1unresolved

Lysosomal Acid Lipase Deficiencyunresolved

CblFunresolved

3-Methylcrotonyl CoA Carboxylase 1 Deficiencyunresolved

3-Methylcrotonyl CoA Carboxylase 2 Deficiencyunresolved

Waardenburg Syndrome Type 2Aunresolved

Methylmalonic Aciduria cblA Typeunresolved

Methylmalonic Aciduria cblB Typeunresolved

Methylmalonic Aciduria and Homocystinuria Type cblCunresolved

MAHCDunresolved

Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiencyunresolved

Congenital Disorder of Glycosylation Type 1Bunresolved

Mthfr Deficiencyunresolved

Methylcobalamin Deficiency Type Cbl G (Disorder)unresolved

Methylcobalamin Deficiency Type cblEunresolved

Usher Syndrome, Type 1Bunresolved

N-acetylglutamate Synthase Deficiencyunresolved

Ornithine Transcarbamylase Deficiencyunresolved

Phenylketonuriasunresolved

Waardenburg Syndrome Type 1unresolved

Congenital Hypothyroidismunresolved

Propionic Acidemiaunresolved

Usher Syndrome, Type 1Funresolved

Pancreatic Agenesis 1unresolved

Hereditary Hypophosphatemic Ricketsunresolved

Glycogen Storage Disease IXBunresolved

Glycogen Storage Disease IXCunresolved

MOWSunresolved

Epilepsy, Early-Onset, Vitamin B6-Dependentunresolved

Pyridoxal Phosphate-Responsive Seizuresunresolved

Pituitary Hormone Deficiency, Combined, 1unresolved

Ptsdunresolved

Dihydropteridine Reductase Deficiencyunresolved

Severe Combined Immunodeficiency Due to RAG1 Deficiencyunresolved

Severe Combined Immunodeficiency Due to RAG2 Deficiencyunresolved

Retinoblastomaunresolved

Multiple Endocrine Neoplasia Type 2Bunresolved

Pseudohypoaldosteronism, Type Iunresolved

Liddle Syndromeunresolved

Biotin-Responsive Basal Ganglia Diseaseunresolved

SCDunresolved

DIAR1unresolved

GSD1Cunresolved

Acrodermatitis Enteropathicaunresolved

Thyroid Dyshormonogenesis 1unresolved

Riboflavin Transporter Deficiencyunresolved

Waardenburg Syndrome, Type 2Eunresolved

SRDunresolved

Congenital Lipoid Adrenal Hyperplasia Due to STAR Deficiencyunresolved

Barth Syndromeunresolved

Adrenocorticotropic Hormone Deficiencyunresolved

Transcobalamin II Deficiencyunresolved

Thyroid Dyshormonogenesis 3unresolved

Segawa Syndrome, Autosomal Recessiveunresolved

Autosomal Recessive Nonsyndromic Hearing Lossunresolved

Thyroid Dyshormonogenesis 2Aunresolved

Congenital Isolated Thyroid Stimulating Hormone Deficiencyunresolved

Hypothyroidism Due to TSH Receptor Mutationsunresolved

Usher Syndrome Type 1Cunresolved

Usher Syndrome Type 1G (Diagnosis)unresolved

Von Willebrand Disease, Type 3unresolved

Combined Immunodeficiency Due to ZAP70 Deficiencyunresolved

Adenine Phosphoribosyltransferase Deficiencyunresolved

Metachromatic Leukodystrophyunresolved

Canavan Diseaseunresolved

Menkes Diseaseunresolved

Carbonic Anhydrase VA Deficiencyunresolved

Developmental and Epileptic Encephalopathy 2unresolved

17 Alpha-Hydroxylase Deficiencyunresolved

Smith-Lemli-Opitz Syndromeunresolved

Krabbe Diseaseunresolved

Glutathione Synthetase Deficiencyunresolved

Mucopolysaccharidosis Type 7unresolved

Rett Syndromeunresolved

Molybdenum Cofactor Deficiency, Type Aunresolved

Niemann-Pick Disease, Type C1unresolved

Niemann-Pick Disease Type C2unresolved

Ornithine Aminotransferase Deficiencyunresolved

3-Phosphoglycerate Dehydrogenase Deficiencyunresolved

Leber Congenital Amaurosis 2unresolved

Dravet Syndromeunresolved

Mucopolysaccharidosis Type 3 Aunresolved

Ornithine Translocase Deficiencyunresolved

Carnitine-acylcarnitine Translocase Deficiencyunresolved

Glucose Transporter Type 1 Deficiency Syndromeunresolved

Creatine Transporter Deficiencyunresolved

Niemann-Pick Disease Type Aunresolved

Pitt Hopkins Syndromeunresolved

Tuberous Sclerosis 1unresolved

Tuberous Sclerosis 2unresolved

Ataxia With Isolated Vitamin E Deficiencyunresolved

Angelman Syndromeunresolved

Prader-Willi Syndromeunresolved

Homocystinuriaunresolved

Permanent Neonatal Diabetes Mellitusunresolved

Transient Neonatal Diabetes Mellitusunresolved

Factor VII Deficiencyunresolved

Glycogen Storage Disease Type IXA1unresolved

Glycogen Storage Disease, Type IXA2unresolved

Glycogen Storage Disease ICunresolved

Glycogen Storage Disease Type IBunresolved

Central Hypoventilation Syndrome With or Without Hirschsprung Diseaseunresolved

Interventions

Confirmatory TestingDIAGNOSTIC_TEST

Sponsors & collaborators

RTI Internationallead sponsor

University of North Carolina, Chapel Hillcollaborator

The John Merck Fundcollaborator

Duke Universitycollaborator

Wake Forest Universitycollaborator

North Carolina Department of Health and Human Servicescollaborator

National Center for Advancing Translational Sciences (NCATS)collaborator

Cure SMAcollaborator

The National Fragile X Foundationcollaborator

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)collaborator

Asuragen, Inc.collaborator

Sarepta Therapeutics, Inc.collaborator

Muscular Dystrophy Associationcollaborator

The Leona M. and Harry B. Helmsley Charitable Trustcollaborator

Juvenile Diabetes Research Foundationcollaborator

Janssen Pharmaceuticalscollaborator

GeneDxcollaborator

Illumina, Inc.collaborator

Registry source

Open the source record to verify current eligibility, contacts, locations and registry updates.

Open NCT03655223 on ClinicalTrials.gov ↗

Registry-derived research relationships: ClinicalTrials.gov. Raw condition and intervention labels remain distinct from canonical MONDO/RxNorm entities unless separately normalized.