# Early Check: Expanded Screening in Newborns

> **NCT03655223** · — · ENROLLING_BY_INVITATION · sponsor: **RTI International** · enrollment: 30000 (estimated)

## Conditions studied

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

## Interventions

- **DIAGNOSTIC_TEST:** Confirmatory Testing

## Key facts

- **NCT ID:** NCT03655223
- **Lead sponsor:** RTI International
- **Sponsor class:** OTHER
- **Phase:** —
- **Study type:** OBSERVATIONAL
- **Status:** ENROLLING_BY_INVITATION
- **Start date:** 2018-10-15
- **Primary completion:** 2025-11-30
- **Final completion:** 2025-12-31
- **Target enrollment:** 30000 (ESTIMATED)
- **Last updated:** 2025-04-04

## Collaborators

- [object Object]
- [object Object]
- [object Object]
- [object Object]
- [object Object]
- [object Object]
- [object Object]
- [object Object]
- [object Object]
- [object Object]
- [object Object]
- [object Object]
- [object Object]
- [object Object]
- [object Object]
- [object Object]
- [object Object]

## Primary source

ClinicalTrials.gov registry: https://clinicaltrials.gov/study/NCT03655223

## Citation

> US National Library of Medicine, ClinicalTrials.gov registration NCT03655223, "Early Check: Expanded Screening in Newborns". Retrieved via AI Analytics 2026-06-26 from https://api.ai-analytics.org/clinical/NCT03655223. Licensed CC0.

---

*[Clinical trials dataset](/datasets/clinical-trials) · CC0 1.0*