NCT03655223
Early Check: Expanded Screening in Newborns
Active, Not Recruiting
Not specifiedAges 1–31ObservationalRTI InternationalInvestigator-initiated
~30,000 participants
Updated 2026-07-01 on ClinicalTrials.gov
What's tested:Confirmatory Testing
At a glance
Recruiting sites
0 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Incidence Rates: Number of newborns who screen positive comparative to the whole sample
Measured over Every 6 months for approximately three years
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
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17-Alpha-Hydroxylase/17,20 Lyase Deficiency3-methylcrotonyl CoA carboxylase 2 deficiency3-Phosphoglycerate dehydrogenase deficiencyAcrodermatitis EnteropathicaAdenine Phosphoribosyltransferase DeficiencyAdenosine Deaminase DeficiencyAdrenocorticotropic Hormone DeficiencyAlpha-Methylacetoacetic AciduriaAlport syndrome autosomal recessiveAlport syndrome X-linkedAmaurosis congenita of Leber, type 2Angelman SyndromeArgininemiaArgininosuccinic AciduriaAtaxia with Isolated Vitamin E DeficiencyAutosomal Recessive Nonsyndromic Hearing LossBarth SyndromeBeta ThalassemiaBiotinidase DeficiencyBiotin-Thiamine-Responsive Basal Ganglia DiseaseBrown-Vialetto-Van Laere syndromeCanavan DiseaseCarbamoyl-Phosphate Synthetase I DeficiencyCarnitine-Acylcarnitine Translocase DeficiencyCarnitine Palmitoyltransferase I DeficiencyCarnitine Palmitoyltransferase II DeficiencyCentral Hypoventilation Syndrome With or Without Hirschsprung DiseaseCerebral Creatine Deficiency Syndrome 1Cerebral Creatine Deficiency Syndrome 2Cerebral Creatine Deficiency Syndrome 3Cerebrotendinous XanthomatosisChronic Granulomatous DiseaseCitrullinemia Type ICongenital deficiency of intrinsic factorCongenital Disorder of Glycosylation Type IbCongenital HypothyroidismCongenital hypothyroidism due to thyroid stimulating hormone receptor mutationCongenital Isolated Thyroid Stimulating Hormone DeficiencyCongenital lipoid adrenal hyperplasia due to STAR deficiencyCystic FibrosisCystinosisDeficiency of 3-hydroxyacyl-CoA dehydrogenaseDelta-4-3-oxosteroid-5-beta-reductase deficiencyDevelopmental and Epileptic Encephalopathy 2Developmental and Epileptic Encephalopathy 6ADiabetes MellitusDiabetes Mellitus, Permanent Neonatal, With Neurologic FeaturesDuchenne Muscular DystrophyEarly-Onset Vitamin B6-Dependent Epilepsy-4Factor VII DeficiencyFactor X DeficiencyFamilial Hyperinsulinemic Hypoglycemia 1Fragile X - PremutationFragile X SyndromeFructose-1,6-Bisphosphatase DeficiencyGalactokinase DeficiencyGalactosemiaGlucose-6-Phosphate Dehydrogenase DeficiencyGlut1 Deficiency SyndromeGlutamate Dehydrogenase 1 HyperinsulinismGlutaric Acidemia Type 1Glutathione Synthetase DeficiencyGLYCOGEN STORAGE DISEASE IXa1Glycogen Storage Disease IXCGlycogen Storage Disease Type IGlycogen Storage Disease Type IbGlycogen Storage Disease Type IIGlycogen Storage Disease, Type IXA2Glycogen storage disease type IXBGTP Cyclohydrolase I DeficiencyHemophilia AHemophilia BHepatolenticular DegenerationHereditary Fructose IntoleranceHermansky-Pudlak Syndrome 1HERMANSKY-PUDLAK SYNDROME 4HMG-CoA Lyase DeficiencyHolocarboxylase Synthetase DeficiencyHomocystinuriaHunter SyndromeHyperammonemic encephalopathy due to carbonic anhydrase VA deficiencyHyperinsulinemic Hypoglycemia, Familial, 2HyperornithinemiaHyperornithinemia-Hyperammonemia-Homocitrullinuria SyndromeHyperphenylalaninemia, BH4-deficient CHypophosphatasiaImmunodeficiency 48Iodotyrosyl coupling defectIsovaleric AcidemiaJAK3-deficient Severe Combined ImmunodeficiencyJervell And Lange-Nielsen Syndrome 1Jervell And Lange-Nielsen Syndrome 2Krabbe DiseaseLiddle SyndromeLong-Chain 3-Hydroxyacyl-CoA Dehydrogenase DeficiencyLysosomal acid lipase deficiencyMaple syrup urine disease, type 1AMaple syrup urine disease, type 1BMaple Syrup Urine Disease, Type IIMaroteaux-Lamy SyndromeMedium-Chain Acyl-CoA Dehydrogenase DeficiencyMenkes DiseaseMetachromatic LeukodystrophyMethylcrotonyl-CoA Carboxylase DeficiencyMethylmalonic Aciduria and Homocystinuria, cblC TypeMethylmalonic Aciduria, cblA TypeMethylmalonic Aciduria, cblB TypeMethylmalonic Aciduria Due to Methylmalonyl-CoA Mutase DeficiencyMitochondrial Trifunctional Protein DeficiencyMolybdenum cofactor deficiency complementation group AMucopolysaccharidosis Type IMucopolysaccharidosis Type IIIAMucopolysaccharidosis Type IVAMultiple Endocrine Neoplasia Type 2BN-Acetylglutamate Synthase DeficiencyNeonatal AdrenoleukodystrophyNeonatal Severe Primary HyperparathyroidismNiemann-Pick Disease, Type ANiemann-Pick Disease, Type C1Niemann-Pick Disease, Type C2Ornithine Carbamoyltransferase Deficiency DiseaseP5PD developmental and epileptic encephalopathyPANCREATIC AGENESIS 1Permanent Neonatal Diabetes MellitusPhenylketonuriaPhosphate transport defectPitt-Hopkins SyndromePituitary Hormone Deficiency, Combined, 1Prader-Willi SyndromePrimary Hyperoxaluria Type IPrimary Hyperoxaluria Type IIPrimary Hyperoxaluria Type IIIPropionic AcidemiaPseudohypoaldosteronism Type 1RetinoblastomaRett SyndromeSevere Combined Immunodeficiency, Athabascan TypeSevere combined immunodeficiency due to IKK2 deficiencySevere Combined Immunodeficiency due to RAG1 DeficiencySevere Combined Immunodeficiency due to RAG2 DeficiencySickle Cell DiseaseSmith-Lemli-Opitz SyndromeSpinal Muscular AtrophyStickler Syndrome Type 1Stickler Syndrome Type 2Supravalvular Aortic StenosisSyndrome of Apparent Mineralocorticoid ExcessThyroglobulin synthesis defectThyroid Dyshormonogenesis 1Thyroid Dyshormonogenesis 6Thyroid Peroxidase DeficiencyTranscobalamin II DeficiencyTransient Neonatal Diabetes MellitusTuberous Sclerosis 1Tuberous Sclerosis 2Tyrosine Hydroxylase DeficiencyTyrosinemia Type IUsher Syndrome Type 1Usher Syndrome Type 1D/F DigenicUsher syndrome type 1FVery Long-Chain Acyl-CoA Dehydrogenase DeficiencyVitamin D Dependent Rickets 2bvon Willebrand Disease, Type 3Waardenburg Syndrome Type 1Waardenburg Syndrome Type 2AWaardenburg Syndrome, Type IIEX-Linked Severe Combined Immunodeficiency
Where it's being run
1 sites across 1 statesNorth Carolina1
Study leadership
- Curt Scharfe, MD, PhD · PRINCIPAL_INVESTIGATOR · RTI International
Who to contact
This trial hasn't published a contact. View it on ClinicalTrials.gov
Do you actually qualify for this trial?
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Eligibility criteria
Inclusion
Newborn has newborn screening in North Carolina
Newborn lives in North Carolina or South Carolina
Newborn is less than 31 days old
Person giving consent must have legal custody of the newborn. When the mother retains custody, they must be the person to give consent.
Person giving consent must be able to interact with the online permission portal (available in English and Spanish) and give permission online
Exclusion
A newborn screening (NBS) sample is unavailable for the newborn
Insufficient NBS sample remains to conduct the screening
What this trial measures
- Incidence Rates: Number of newborns who screen positive comparative to the whole sampleEvery 6 months for approximately three years
Incidence rates of infants who screen positive for conditions on the Early Check panel.