Early Check: Expanded Screening in Newborns

N/A

Waitlist Available

Led By Don Bailey, PhD

Research Sponsored by RTI International

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Be younger than 18 years old

Timeline

Screening 3 weeks

Treatment Varies

Follow Up measured within 6 months of participant screening results

Awards & highlights

No Placebo-Only Group

Summary

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.

Eligible Conditions

Retinoblastoma
Fragile X Syndrome
Methylmalonic Aciduria and Homocystinuria
Galactosemia
Hemophilia B
Glycinemia
Artemis Deficiency
Long QT syndrome
Sudden Infant Death Syndrome
Cystic Fibrosis
Tetrahydrobiopterin Deficiency
Angelman Syndrome
Diabetes
Classical citrullinemia
Multiple Endocrine Neoplasia
Congenital hypothyroidism
Holocarboxylase Synthetase Deficiency
Hypopituitarism
Usher Syndrome
Congenital Hyperinsulinism
Riboflavin Transporter Deficiency
Isovaleric Acidemia
Barth Syndrome
Tyrosinemia
Dravet Syndrome
Glycogen storage disease
von Gierke disease
Waardenburg Syndrome
Alport Syndrome
Monoamine oxidase inhibitors
N-acetylglutamate Synthase Deficiency
Phenylketonuria
Adrenal hyperplasia
Pitt Hopkins Syndrome
Pyridoxine-dependent epilepsy
Sickle cell disease
Biotinidase Deficiency
Gene Mutation
Dystonia
Adenine Phosphoribosyl Transferase Deficiency
Beta Thalassemia
Dravet syndrome
Spinal Muscular Atrophy
Pernicious Anemia
Aortic Stenosis
Wolcott-Rallison syndrome
3-Methylcrotonyl CoA Carboxylase 2 Deficiency
Methylmalonic Acidemia
Mildly elevated blood pressure
Von Willebrand Disease
Krabbe Disease
Niemann-Pick Disease
Congenital Central Hypoventilation Syndrome
Glut1 Deficiency Syndrome
Primary Hyperoxaluria
Tuberous Sclerosis
RAG2 Deficiency
Hypophosphatasia
Maroteaux-Lamy syndrome
Neonatal hyperparathyroidism
Carnitine Palmitoyltransferase II Deficiency
MSUD
Hemophilia A
Cerebral Creatine Deficiency Syndrome
Argininemia
Glutaric Acidemia
Mitochondrial Protein Deficiency
HMG-CoA lyase deficiency
Albinism
Common Cold
SCID
Neonatal Diabetes
Vitamin B12 Deficiency
Retinitis pigmentosa
Liddle Syndrome
BRBGD
Deafness
Glutathione synthetase deficiency
Molybdenum Cofactor Deficiency
Iodine Deficiency Disorders
Canavan Disease
Hyperargininemia
Duchenne Muscular Dystrophy
Morquio syndrome
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Hurler syndrome
Smith-Lemli-Opitz Syndrome
Prader-Willi Syndrome
Hunter syndrome
Congenital Hypothyroidism
NPC1
Tuberous sclerosis
Homocystinuria
Post-traumatic stress disorder
Pseudoaldosteronism
Glycogen Storage Disease
ALD
Stickler Syndrome
Urea cycle disorder
Creatine Transporter Deficiency
Pompe disease
CPT1A Deficiency
Liddle syndrome
Carnitine Translocase Deficiency
Cystinosis
Congenital Adrenal Hyperplasia
Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome
Factor VII Deficiency
Argininosuccinic Aciduria
Wilson's Disease
Hemophilia
Bubble Boy Disease
Cori's disease
LCA2
Propionic Acidemia
Metachromatic Leukodystrophy
Adrenocorticotropic Hormone Deficiency
Serine deficiency
Transient Neonatal Diabetes Mellitus
Rett Syndrome
Rickets
Zinc Deficiency
Nephropathic Cystinosis
ADA-SCID
Fructose intolerance
Sly syndrome
Hyperoxaluria
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Cori's Disease
Lysosomal Acid Lipase Deficiency
Pancreatic agenesis
3-Methylcrotonyl CoA Carboxylase 1 Deficiency
Xanthoma
Medium-chain acyl-CoA dehydrogenase deficiency
Chronic Granulomatous Disease
Segawa Syndrome
Erythrocyte pyruvate kinase deficiency
Kidney disease
Branched-chain ketoacid dehydrogenase deficiency
Severe Combined Immunodeficiency
High blood pressure
Deaf-Blindness
Sickle Cell Disease
Friedreich Ataxia
HI-HA Syndrome
Apparent Mineralocorticoid Excess
Menkes Disease
Citrullinemia
Vitamin B6-dependent epilepsy
Diarrhea
Multiple Congenital Anomaly Syndrome
Beta-Ketothiolase Deficiency
Fructose Intolerance
G6PD Deficiency
CDG
Acyl CoA Dehydrogenase Deficiency
Pyridoxine-Dependent Epilepsy
Sanfilippo syndrome
Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Bile acid synthesis disorder

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ measured within 6 months of participant screening results

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~measured within 6 months of participant screening results

This trial's timeline: 3 weeks for screening, Varies for treatment, and measured within 6 months of participant screening results for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

Incidence Rates: Number of newborns who screen positive comparative to the whole sample

Secondary study objectives

Impact of Screening: Semi-structured parent interviews.

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

2Treatment groups

Experimental Treatment

Group I: Newborn infants born in North CarolinaExperimental Treatment1 Intervention

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.

Group II: Birthing Mothers in North CarolinaExperimental Treatment0 Interventions

All birthing mothers in North Carolina will have the opportunity to participate in Early Check.

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