Early Check: Expanded Screening in Newborns
Public ClinicalTrials.gov record NCT03655223. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Early Check: A Collaborative Innovation to Facilitate Pre-Symptomatic Clinical Trials in Newborns
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.
Study identification
- NCT ID
- NCT03655223
- Recruitment status
- Active, not recruiting
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 30,000 participants
Conditions and interventions
Conditions
- 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
Eligibility (public fields only)
- Age range
- 1 Day to 31 Days
- Sex
- All
- Healthy volunteers
- Accepts healthy volunteers
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Oct 14, 2018
- Primary completion
- Nov 29, 2026
- Completion
- Dec 30, 2026
- Last update posted
- Jun 30, 2026
2018 – 2026
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| RTI International | Research Triangle Park | North Carolina | 27709 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT03655223, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Jun 30, 2026 · Synced Sep 4, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT03655223 live on ClinicalTrials.gov.