Early Check: Expanded Screening in Newborns

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

Eligibility Criteria

Sex

ALL

Age

1 Day - 31 Days

Healthy Volunteers

Accepted

Interventions

• Confirmatory Testing — DIAGNOSTIC_TEST
  If a newborn's screening test is positive, an experienced genetic counselor will contact the infant's mother by phone to explain the positive screening result and arrange for confirmatory testing and a follow-up appointment. If the confirmatory test is positive, then the child receives a diagnosis of the disease. Children identified with a disorder are referred for treatment, their parents receive information and counseling on what a positive diagnosis means for their child, and they are offered participation in follow-up and registry activities for the disorder.

Study Details

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.

Key Dates

Start date

Oct 15, 2018

Status verified

Dec 2024

Primary completion

Nov 30, 2025

Completion

Dec 31, 2025

Study Design

Enrollment

30,000 participants (estimated)

Arms

• Arm: Newborn infants born in North Carolina
  All newborn infants in North Carolina will have the opportunity to participate in Early Check. Those who screen positive for the conditions identified in the study will be subject to confirmatory testing.
• Arm: Birthing Mothers in North Carolina
  All birthing mothers in North Carolina will have the opportunity to participate in Early Check.

Primary Outcome Measure

Incidence Rates: Number of newborns who screen positive comparative to the whole sample [ Time Frame: Every 6 months for approximately three years ]

Locations (1)

Find similar trials in Research Triangle Park, NC

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