Treatment Trials

2 Clinical Trials for Various Conditions

COMPLETED

Influence of OCTN2 Variants on Carnitine Status and Plasma Triglycerides

Description

The current study is part of a large multi-investigator grant to look at the pharmacogenetics of a number of membrane transporters. Previously, the investigators have recruited a cohort of healthy volunteers (Studies of Pharmacogenetics in Ethnically-Diverse Populations, or SOPHIE) and have resequenced the coding region of a number of membrane transporter genes to identify genetic polymorphisms in these genes. Subjects in this cohort have agreed to be called back for recruitment in further studies based on their own genetic sequence, allowing the investigators the possibility to prospectively study the influence of genetic polymorphisms on particular phenotypes (i.e., genotype-to-phenotype studies). The investigators plan to take a genotype-to-phenotype approach to study the influence of specific polymorphisms in the novel organic cation transporter 2 (OCTN2) gene on carnitine and lipid metabolism in healthy subjects.

Conditions

Carnitine Transporter Deficiency

ENROLLING_BY_INVITATION

Early Check: Expanded Screening in Newborns

Description

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.

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