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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
Congenital Hyperinsulinism (CHI), Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI)
Interventions
18 F-DOPA
Drug
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
Not listed
Enrollment
130 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2018
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
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
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, Post Gastrointestinal Tract Surgery Hypoglycaemia
Interventions
Pasireotide
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
18 Years and older
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017
U.S. locations
1
States / cities
Aurora, Colorado
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
Conditions
Enhanced Recovery After Surgery, Cesarean Section
Interventions
Carbohydrate Preoperative Drink
Dietary Supplement
Lead sponsor
University of Arizona
Other
Eligibility
18 Years and older · Female only
Enrollment
216 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2024
U.S. locations
1
States / cities
Tucson, Arizona
Conditions
Congenital Hyperinsulinism
Interventions
RZ358 Sequential Group Cohort 1, RZ358 Sequential Group Cohort 2, RZ358 Sequential Group Cohort 3, RZ358 Sequential Group Cohort 4
Drug
Lead sponsor
Rezolute
Other
Eligibility
2 Years to 45 Years
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
2
States / cities
Philadelphia, Pennsylvania • Fort Worth, Texas
Not listed 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
Conditions
Congenital Hyperinsulinism, Insulinoma
Interventions
Fluorodopa F 18
Drug
Lead sponsor
Cook Children's Health Care System
Other
Eligibility
Up to 18 Years
Enrollment
250 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2028
U.S. locations
1
States / cities
Fort Worth, Texas
Not listed Phase 4 Interventional Accepts healthy volunteers

Late Preterm Corticosteroids and Neonatal Hypoglycemia

NCT04869709
Conditions
Neonatal Hypoglycemia, Prematurity
Interventions
Betamethasone Sodium Phosphate
Drug
Lead sponsor
University of Southern California
Other
Eligibility
Female only
Enrollment
210 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2024
U.S. locations
1
States / cities
Los Angeles, California
Conditions
Hypoglycemia, Newborn Morbidity
Interventions
Continuous Glucose Monitoring
Device
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Up to 60 Days
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Congenital Disorders of Glycosylation
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 80 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Completed Phase 2 Interventional Results available

Studies of Elevated Parathyroid Activity

NCT00001277
Conditions
Hyperparathyroidism, Hypercalcemia, Parathyroid Neoplasm, Multiple Endocrine Neoplasia, MEN1
Interventions
68Ga-Dotatate, 18F-DOPA
Drug
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIH
Eligibility
2 Months and older
Enrollment
1,553 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1993 – 2020
U.S. locations
1
States / cities
Bethesda, Maryland
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
Congenital Hyperinsulinism
Interventions
Glucagon, Placebo
Drug · Other
Lead sponsor
Xeris Pharmaceuticals
Industry
Eligibility
Up to 12 Months
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2018
U.S. locations
5
States / cities
Los Angeles, California • San Francisco, California • St Louis, Missouri + 2 more
Conditions
Hypoxic-Ischemic Encephalopathy, Hypoglycemia, Neonatal Abstinence Syndrome
Interventions
nfant feeding solution
Device
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Up to 6 Months
Enrollment
16 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2021
U.S. locations
1
States / cities
Boston, Massachusetts
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
Neonatal Hypoglycemia, Neurodevelopmental Disorders
Interventions
Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4)
Diagnostic Test
Lead sponsor
Montefiore Medical Center
Other
Eligibility
18 Months to 24 Months
Enrollment
126 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
1
States / cities
The Bronx, New York
Terminated No phase listed Observational Accepts healthy volunteers

Continuous Glucose Monitoring in Neonatal Hyperinsulinism

NCT06363929
Conditions
Hyperinsulinism, Hypoglycemia Neonatal
Interventions
Dexcom G6 continuous glucose monitor
Device
Lead sponsor
MemorialCare Health System
Other
Eligibility
24 Hours to 3 Months
Enrollment
1 participant
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2025
U.S. locations
1
States / cities
Long Beach, California
Conditions
Glycogen Storage Disease Type III
Interventions
No Intervention
Other
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
1 Year and older
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
3
States / cities
Philadelphia, Pennsylvania • Houston, Texas