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Showing 25–48 of 24 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
HIV Infections, Human Immunodeficiency Virus
Interventions
Dexelvucitabine
Drug
Lead sponsor
Incyte Corporation
Industry
Eligibility
16 Years to 75 Years
Enrollment
250 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006
U.S. locations
10
States / cities
Long Beach, California • Brandon, Florida • Fort Lauderdale, Florida + 7 more
Conditions
Breast Cancer
Interventions
Not listed
Lead sponsor
New York Presbyterian Hospital
Other
Eligibility
18 Years and older · Female only
Enrollment
2,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1991
U.S. locations
2
States / cities
New York, New York
Conditions
Myoclonus Epilepsies, Progressive
Interventions
AUT00201, Placebo
Drug
Lead sponsor
Autifony Therapeutics Limited
Industry
Eligibility
18 Years and older
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Conditions
Breast Cancer
Interventions
Not listed
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
1,093 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021
U.S. locations
1
States / cities
East Hanover, New Jersey
Conditions
Duchenne Muscular Dystrophy
Interventions
PTC124
Drug
Lead sponsor
PTC Therapeutics
Industry
Eligibility
5 Years and older · Male only
Enrollment
38 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2007
U.S. locations
3
States / cities
Cincinnati, Ohio • Philadelphia, Pennsylvania • Salt Lake City, Utah
Conditions
PIK3CA Mutation, Solid Tumor, Adult, HER2-negative Breast Cancer, Breast Cancer, Metastatic Breast Cancer, Advanced Breast Cancer, Unresectable Solid Tumor, Hormone Receptor Positive Tumor
Interventions
RLY-5836, Fulvestrant, Palbociclib, Ribociclib, Abemaciclib
Drug
Lead sponsor
Relay Therapeutics, Inc.
Industry
Eligibility
18 Years and older
Enrollment
41 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
7
States / cities
Orlando, Florida • Indianapolis, Indiana • Boston, Massachusetts + 4 more
Conditions
Cystic Fibrosis
Interventions
GLPG2222 50 mg, GLPG2222 100 mg, Placebo, GLPG2222 200 mg, GLPG2222 400 mg
Drug
Lead sponsor
Lakefront Biotherapeutics NV
Industry
Eligibility
18 Years to 99 Years
Enrollment
59 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017
U.S. locations
7
States / cities
Chatom, Alabama • Little Rock, Arkansas • Orlando, Florida + 4 more
Conditions
Non - Small Cell Lung Cancer NSCLC
Interventions
MEDI4736 (durvalumab), Vinorelbine, Gemcitabine, Erlotinib, MEDI4736 (durvalumab) in combination with tremelimumab (anti-CTLA4), tremelimumab (anti-CTLA4)
Drug
Lead sponsor
AstraZeneca
Industry
Eligibility
18 Years to 130 Years
Enrollment
597 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2023
U.S. locations
33
States / cities
Chandler, Arizona • Anaheim, California • Duarte, California + 29 more
Conditions
Cystic Fibrosis
Interventions
Ivacaftor, Placebo
Drug
Lead sponsor
Vertex Pharmaceuticals Incorporated
Industry
Eligibility
12 Years and older
Enrollment
140 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2013
U.S. locations
34
States / cities
Birmingham, Alabama • Anchorage, Alaska • Oakland, California + 30 more
Conditions
Healthy, Pulmonary Fibrosis, Rheumatoid Arthritis
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
21 Years and older
Enrollment
400 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1999 – 2007
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Solid Tumor
Interventions
ASP4396
Drug
Lead sponsor
Astellas Pharma Inc
Industry
Eligibility
18 Years and older
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
7
States / cities
Westwood, Kansas • Grand Rapids, Michigan • New York, New York + 4 more
Conditions
Malignant Melanoma
Interventions
vemurafenib
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
12 Years to 17 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2015
U.S. locations
8
States / cities
Los Angeles, California • Aurora, Colorado • Saint Petersburgh, Florida + 5 more
Conditions
Heterozygous Familial Hypercholesterolemia
Interventions
Evolocumab, Placebo
Drug
Lead sponsor
Amgen
Industry
Eligibility
10 Years to 17 Years
Enrollment
158 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
12
States / cities
Farmington, Connecticut • Wilmington, Delaware • Iowa City, Iowa + 9 more
Conditions
Solid Tumor
Interventions
Derazantinib low dose range, Derazantinib middle dose range, Derazantinib high dose range, Derazantinib at recommended phase 2 dose (RP2D)
Drug
Lead sponsor
Basilea Pharmaceutica
Industry
Eligibility
18 Years and older
Enrollment
119 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2018
U.S. locations
8
States / cities
Scottsdale, Arizona • Atlanta, Georgia • Detroit, Michigan + 5 more
Conditions
Becker Muscular Dystrophy, Duchenne Muscular Dystrophy
Interventions
Gentamicin
Drug
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Not listed
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Non Small Cell Lung Cancer
Interventions
DZD6008, Sunvozertinib
Drug
Lead sponsor
Dizal Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
140 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
3
States / cities
New York, New York • Fairfax, Virginia
Conditions
Uterine Neoplasms, Uterine Cervical Neoplasms, Biliary Tract Neoplasms, Urologic Neoplasms, Carcinoma, Non-Small-Cell Lung, HER2 Mutations Breast Neoplasms
Interventions
tucatinib, trastuzumab, fulvestrant
Drug
Lead sponsor
Seagen, a wholly owned subsidiary of Pfizer
Industry
Eligibility
18 Years and older
Enrollment
217 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2026
U.S. locations
75
States / cities
Phoenix, Arizona • Tempe, Arizona • Tucson, Arizona + 47 more
Conditions
Advanced Solid Tumor
Interventions
MRTX849, Palbociclib
Drug
Lead sponsor
Mirati Therapeutics Inc.
Industry
Eligibility
18 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
4
States / cities
Orlando, Florida • Nashville, Tennessee • Houston, Texas + 1 more
Conditions
BARD1 Gene Mutation, BRCA1 Gene Mutation, BRCA2 Gene Mutation, BRIP1 Gene Mutation, Estrogen Receptor Negative, HER2/Neu Negative, MLH1 Gene Mutation, MSH2 Gene Mutation, MSH6 Gene Mutation, PALB2 Gene Mutation, PMS2 Gene Mutation, Progesterone Receptor Negative, RAD51C Gene Mutation, RAD51D Gene Mutation, Triple-Negative Breast Carcinoma
Interventions
Educational Intervention, Genetic Counseling, Laboratory Biomarker Analysis, Questionnaire Administration
Other
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
30 Years and older · Female only
Enrollment
5,200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2026
U.S. locations
2
States / cities
Houston, Texas • Seattle, Washington
Conditions
Metastatic Colorectal Cancer, KRAS Gene Mutation
Interventions
Onvansertib, Bevacizumab, FOLFIRI
Drug · Biological
Lead sponsor
Cardiff Oncology
Industry
Eligibility
18 Years and older
Enrollment
68 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2024
U.S. locations
7
States / cities
Phoenix, Arizona • Little Rock, Arkansas • Los Angeles, California + 4 more
Conditions
Parkinson Disease, Gaucher Disease
Interventions
15-0 H20
Drug
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 110 Years
Enrollment
64 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2006
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Diffuse Large B-Cell Lymphoma
Interventions
AEB071
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
6
States / cities
Duarte, California • St Louis, Missouri • Hackensack, New Jersey + 3 more
Conditions
Solid Tumors, Advanced Cancer, Renal Cancer, Gastric Cancer, Gastroesophageal Junction Adenocarcinoma, NSCLC, Lung Cancer, Brain Tumor, Glioblastoma Multiforme, EGFR Gene Mutation, MET Amplification, HGF, Thyroid Cancer, Pancreatic Cancer, Colon Cancer, MET Alteration, MET Fusion, Exon 14 Skipping
Interventions
APL-101 Oral Capsules
Drug
Lead sponsor
Apollomics Inc.
Industry
Eligibility
18 Years and older
Enrollment
497 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2026
U.S. locations
6
States / cities
Los Angeles, California • Tampa, Florida • Boston, Massachusetts + 3 more