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Showing 1–24 of 53 matching trials from the live ClinicalTrials.gov search.
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Active, not recruiting No phase listed Observational Accepts healthy volunteers

Early Check: Expanded Screening in Newborns

NCT03655223
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
Interventions
Confirmatory Testing
Diagnostic Test
Lead sponsor
RTI International
Other
Eligibility
1 Day to 31 Days
Enrollment
30,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2026
U.S. locations
1
States / cities
Research Triangle Park, North Carolina
Conditions
Neonatal Hypoglycemia
Interventions
Standard of care glucose test
Diagnostic Test
Lead sponsor
Stanford University
Other
Eligibility
Up to 7 Days
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2018
U.S. locations
1
States / cities
Stanford, California
Completed Not applicable Interventional

Post-Gastric Bypass Hypoglycemia

NCT01933490
Conditions
Hyperinsulinemic Hypoglycemia
Interventions
high carbohydrate test meal, high carbohydrate test meal after pre-treatment with rapid acting aspart insulin, high fructose , low glucose test meal with carbohydrate and caloric content similar to the control meal
Other
Lead sponsor
University of Minnesota
Other
Eligibility
21 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
1
States / cities
Minneapolis, Minnesota
Conditions
Congenital Hyperinsulinism
Interventions
Exendin-(9-39), placebo
Drug
Lead sponsor
Diva De Leon
Other
Eligibility
6 Months to 18 Years
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2017
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Conditions
Hyperinsulinism
Interventions
18F-Fluoro Dopa PET/MRI Imaging
Drug
Lead sponsor
Washington University School of Medicine
Other
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2030
U.S. locations
1
States / cities
St Louis, Missouri
Conditions
Hypoglycemia, Neonatal Hypoglycemia
Interventions
Not listed
Lead sponsor
Pediatrix
Other
Eligibility
34 Weeks and older
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020
U.S. locations
1
States / cities
Phoenix, Arizona
Conditions
Congenital Hyperinsulinism
Interventions
HM15136
Drug
Lead sponsor
Hanmi Pharmaceutical Company Limited
Industry
Eligibility
2 Years and older
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Conditions
Congenital Hyperinsulinism
Interventions
18F-Fluoro Dopa Imaging
Drug
Lead sponsor
Miguel Pampaloni
Other
Eligibility
0 Days to 18 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2026
U.S. locations
1
States / cities
San Francisco, California
Completed Not applicable Interventional Accepts healthy volunteers Results available

Euglycemia After Antenatal Late Preterm Steroids, the E-ALPS Study

NCT03076775
Conditions
Pregnancy Preterm, Neonatal Hypoglycemia, Hyperglycemia Drug Induced
Interventions
Maternal glycemic control
Other
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
18 Years to 50 Years · Female only
Enrollment
86 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2021
U.S. locations
2
States / cities
Birmingham, Alabama • Chapel Hill, North Carolina
Conditions
Hyperinsulinemia Hypoglycemia
Interventions
Exendin (9-39)
Drug
Lead sponsor
Tracey McLaughlin
Other
Eligibility
18 Years to 65 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
1
States / cities
Stanford, California
Conditions
Glycogen Storage Disease Type I
Interventions
Triheptanoin
Drug
Lead sponsor
Areeg El-Gharbawy
Other
Eligibility
1 Month to 65 Years
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2021
U.S. locations
1
States / cities
Durham, North Carolina
Completed Not applicable Interventional Accepts healthy volunteers

Frequency of Glucose Monitoring in Labor

NCT06373432
Conditions
Neonatal Hypoglycemia
Interventions
Fingerstick
Other
Lead sponsor
Icahn School of Medicine at Mount Sinai
Other
Eligibility
18 Years and older · Female only
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2025
U.S. locations
1
States / cities
New York, New York
Not listed Not applicable Interventional Accepts healthy volunteers

Comparing Heel Stick Glucoses in Neonates

NCT04811612
Conditions
Neonatal Hypoglycemia
Interventions
Warmed heel stick
Diagnostic Test
Lead sponsor
University of Arizona
Other
Eligibility
0 Hours to 48 Hours
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021
U.S. locations
1
States / cities
Tucson, Arizona
Conditions
Hyperinsulinemic Hypoglycemia
Interventions
Exenatide, Acarbose, Exenatide Placebo, Acarbose Placebo
Drug
Lead sponsor
University of Minnesota
Other
Eligibility
18 Years to 60 Years
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
1
States / cities
Minneapolis, Minnesota
Conditions
Congenital Portosystemic Shunt, CPSS (Congenital Portosystemic Shunt)
Interventions
Shunt Closure
Procedure
Lead sponsor
Prof. Valérie Mc Lin
Other
Eligibility
1 Day and older
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2028
U.S. locations
2
States / cities
New Haven, Connecticut • Chicago, Illinois
Conditions
Congenital Hyperinsulinism, Hyperinsulinism, Persistent Hyperinsulinemic Hypoglycemia of Infancy, CHI, PHHI
Interventions
F-DOPA, PET scan
Drug · Radiation
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
Up to 18 Years
Enrollment
106 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2009
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Completed No phase listed Observational

Hypoglycemia in Prader-Willi Syndrome

NCT01897363
Conditions
Prader Willi Syndrome, Hypoglycemia
Interventions
Infants with Prader-Willi Syndrome
Other
Lead sponsor
University of Florida
Other
Eligibility
2 Months to 12 Months
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
1
States / cities
Gainesville, Florida
Conditions
Type 1 Diabetes (T1D), Pregnancy, Pre-Gestational Diabetes
Interventions
Automated insulin delivery (AID) system, Intravenous (IV) insulin
Device · Other
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 55 Years · Female only
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
3
States / cities
Los Angeles, California • San Diego, California • San Francisco, California
Conditions
Hyperinsulinemic Hypoglycemia, Persistent, Congenital Hyperinsulinism, Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI)
Interventions
18 F-DOPA
Drug
Lead sponsor
Baylor College of Medicine
Other
Eligibility
Up to 64 Years
U.S. locations
1
States / cities
Houston, Texas
Recruiting No phase listed Observational Accepts healthy volunteers

Continuous Glucose Monitoring in Infants

NCT04458649
Conditions
Neonatal Hypoglycemia
Interventions
Dexcom continuous glucose monitor
Device
Lead sponsor
University of California, San Diego
Other
Eligibility
1 Hour to 2 Hours
Enrollment
200 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2024
U.S. locations
1
States / cities
La Jolla, California
Conditions
Congenital Hyperinsulinism
Interventions
dasiglucagon, Placebo
Drug
Lead sponsor
Zealand Pharma
Industry
Eligibility
7 Days to 364 Days
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
2
States / cities
Philadelphia, Pennsylvania • Fort Worth, Texas
Completed No phase listed Observational

CGM Use in Preterm Infants

NCT05436925
Conditions
Very Low Birth Weight Infant, Very Preterm Maturity of Infant, Hyperglycemia
Interventions
Dexcom G6 sensor Continuous Glucose Monitor (CGM)
Device
Lead sponsor
University of Minnesota
Other
Eligibility
Up to 72 Hours
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
1
States / cities
Minneapolis, Minnesota
Conditions
Congenital Hyperinsulinism
Interventions
Exendin-(9-39), Vehicle
Drug · Other
Lead sponsor
Diva De Leon
Other
Eligibility
7 Years to 60 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2014
U.S. locations
1
States / cities
Philadelphia, Pennsylvania