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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Conditions
NSCLC
Interventions
REGN5093
Drug
Lead sponsor
Regeneron Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
95 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2027
U.S. locations
8
States / cities
Orange, California • Washington D.C., District of Columbia • Tampa, Florida + 4 more
Conditions
GJB2-mediated Hearing Loss, GJB2 Gene Mutation, DFNB1A
Interventions
SKY-GJB2
Combination Product
Lead sponsor
Skylark Bio Inc.
Industry
Eligibility
9 Months to 7 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
4
States / cities
Bethesda, Maryland • Boston, Massachusetts • Oklahoma City, Oklahoma + 1 more
Conditions
TNNT1-associated Myopathy, Infantile-onset Nemaline Rod Myopathy, Myopathies, Nemaline, Myopathy, Myopathy, Rod, Myopathy; Hereditary, Amish Nemaline Myopathy, Nemaline Myopathy 5, NEM5, Genetic Muscle Disease, Recessive Hereditary Disorder (Autosomal), ANM
Interventions
Not listed
Lead sponsor
Clinic for Special Children
Other
Eligibility
Not listed
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2027
U.S. locations
1
States / cities
Gordonville, Pennsylvania
Conditions
Bone Marrow Failure Syndrome, Severe Aplastic Anemia, Severe Congenital Neutropenia, Amegakaryocytic Thrombocytopenia, Diamond-Blackfan Anemia, Schwachman Diamond Syndrome, Primary Immunodeficiency Syndromes, Acquired Immunodeficiency Syndromes, Histiocytic Syndrome, Familial Hemophagocytic Lymphocytosis, Lymphohistiocytosis, Macrophage Activation Syndrome, Langerhans Cell Histiocytosis (LCH), Hemoglobinopathies, Sickle Cell Disease, Sickle Cell-beta-thalassemia
Interventions
CD34 Stem Cell Selection Therapy
Biological
Lead sponsor
Diane George
Other
Eligibility
Up to 40 Years
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2030
U.S. locations
1
States / cities
New York, New York
Conditions
Chronic Obstructive Airway Disease
Interventions
Bi-level positive airway pressure (BPAP), Oxygen, CPAP
Device · Drug
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years to 75 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
2
States / cities
Boston, Massachusetts
Conditions
IgA Nephropathy, Lupus Nephritis (LN), C3 (Complement Component 3) Glomerulopathy
Interventions
ADX-097
Drug
Lead sponsor
Akebia Therapeutics
Industry
Eligibility
16 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
Lawrenceville, Georgia
Conditions
Parkinson Disease 6, Early-Onset, Parkinson Disease (Autosomal Recessive, Early Onset) 7, Human, Parkinson Disease Autosomal Recessive, Early Onset, Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
18 Years to 80 Years
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Congenital Hearing Loss Secondary to Biallelic Mutations of the Otoferlin Gene (OTOF)
Interventions
DB-OTO
Genetic
Lead sponsor
Regeneron Pharmaceuticals
Industry
Eligibility
Not listed
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2032
U.S. locations
9
States / cities
Los Angeles, California • San Diego, California • Jacksonville, Florida + 6 more
Conditions
Chronic Granulomatous Disease (CGD)
Interventions
Not listed
Lead sponsor
Ensoma
Industry
Eligibility
Not listed
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
50
States / cities
Montgomery, Alabama • Phoenix, Arizona • Little Rock, Arkansas + 47 more
Conditions
Myocardial Infarction
Interventions
BB3, Normal saline
Drug
Lead sponsor
Angion Biomedica Corp
Industry
Eligibility
21 Years to 80 Years
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
2
States / cities
Minneapolis, Minnesota • New Haven, New York
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
Stargardt Disease-1
Interventions
STG-001
Drug
Lead sponsor
Stargazer Pharmaceuticals, Inc.
Industry
Eligibility
18 Years to 55 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2021
U.S. locations
5
States / cities
Phoenix, Arizona • Gainesville, Florida • Portland, Oregon + 2 more
Conditions
Shwachman-Diamond Syndrome, SDS, IBMF, Congenital Neutropenia, Heme Malignancy, Shwachman Syndrome, Inherited Bone Marrow Failure, Exocrine Pancreatic Insufficiency, WHIM, ELANE, SBDS Gene Mutation, EFL1 Gene Mutation, DNAJC21 Gene Mutation, SRP54 Gene Mutation, Inherited Cancer Syndrome, Inherited Cancer-Predisposing Syndrome, Neutropenia, Severe Chronic, Neutropenia Other, Neutropenia Chronic Benign, Ribosome Alteration, Ribosomopathy, Immune Deficiency, Inherited BMF Syndrome, Inherited Immunodeficiency Diseases, Cognitive Delay, Mild, Myelodysplastic Syndromes, Pancytopenia
Interventions
Not listed
Lead sponsor
Shwachman-Diamond Syndrome Alliance Inc
Other
Eligibility
Not listed
Enrollment
8,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2088
U.S. locations
1
States / cities
Woburn, Massachusetts
Conditions
Acute Leukemia, Severe Aplastic Anemia, Non-hodgkin Lymphoma, Hodgkin Lymphoma, Kostmann, Diamond Blackfan Anemia, Amegakaryocytic Thrombocytopenia, Sickle Cell Disease, Beta-Thalassemia
Interventions
alpha beta depletion
Drug
Lead sponsor
Mitchell Cairo
Other
Eligibility
1 Day to 30 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
1
States / cities
Valhalla, New York
Enrolling by invitation No phase listed Observational

SLC13A5 Deficiency Natural History Study - Remote Only

NCT04681781
Conditions
Citrate Transporter Deficiency, Epilepsy, Rare Diseases, Movement Disorders, Genetic Disorder, SLC13A5 Deficiency, EIEE25, Kohlschutter-Tonz Syndrome (non-ROGDI), 17p13.1 Deletions Confined to SLC13A5 Gene, Citrate Transporter Disorder
Interventions
Not listed
Lead sponsor
TESS Research Foundation
Other
Eligibility
Not listed
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
1
States / cities
Palo Alto, California
Conditions
Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission, Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia, Acute Myeloid Leukemia With FLT3/ITD Mutation, Acute Myeloid Leukemia With Gene Mutations, Aplastic Anemia, B-Cell Non-Hodgkin Lymphoma, CD40 Ligand Deficiency, Chronic Granulomatous Disease, Chronic Leukemia in Remission, Chronic Lymphocytic Leukemia, Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Chronic Myelomonocytic Leukemia, Chronic Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Congenital Amegakaryocytic Thrombocytopenia, Congenital Neutropenia, Congenital Pure Red Cell Aplasia, Glanzmann Thrombasthenia, Immunodeficiency Syndrome, Myelodysplastic Syndrome, Myelofibrosis, Myeloproliferative Neoplasm, Paroxysmal Nocturnal Hemoglobinuria, Plasma Cell Myeloma, Polycythemia Vera, Recurrent Non-Hodgkin Lymphoma, Refractory Non-Hodgkin Lymphoma, Secondary Acute Myeloid Leukemia, Secondary Myelodysplastic Syndrome, Severe Aplastic Anemia, Shwachman-Diamond Syndrome, Sickle Cell Disease, T-Cell Non-Hodgkin Lymphoma, Thalassemia, Waldenstrom Macroglobulinemia, Wiskott-Aldrich Syndrome
Interventions
Cyclophosphamide, Fludarabine Phosphate, Laboratory Biomarker Analysis, Peripheral Blood Stem Cell Transplantation, Total-Body Irradiation
Drug · Other · Procedure + 1 more
Lead sponsor
Roswell Park Cancer Institute
Other
Eligibility
1 Year to 75 Years
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2023
U.S. locations
1
States / cities
Buffalo, New York
Enrolling by invitation No phase listed Observational

Long Term Follow-up Study of AAVAnc80-hOTOF Gene Therapy

NCT06696456
Conditions
Otoferlin Gene-mediated Hearing Loss
Interventions
Not listed
Lead sponsor
Akouos, Inc.
Industry
Eligibility
Not listed
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2033
U.S. locations
3
States / cities
Iowa City, Iowa • Boston, Massachusetts • Philadelphia, Pennsylvania
Conditions
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets, Adenosine Triphosphate Binding Cassette Transporter Protein Subfamily C Member 6
Interventions
No Intervention for this observational study
Other
Lead sponsor
Inozyme Pharma
Industry
Eligibility
2 Years to 18 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
3
States / cities
Boston, Massachusetts • Philadelphia, Pennsylvania • Fort Worth, Texas
Conditions
Lamellar Ichthyosis
Interventions
CD5789 Cream 200 µg/g, CD5789 Cream 100 µg/g, CD5789 Cream Vehicle
Drug
Lead sponsor
Mayne Pharma International Pty Ltd
Industry
Eligibility
12 Years and older
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
10
States / cities
San Diego, California • Aurora, Colorado • New Haven, Connecticut + 7 more
Completed Phase 1 Interventional Accepts healthy volunteers

Phase 1 Single Dose Study of ALXN1101 in Healthy Volunteers

NCT01894165
Conditions
Molybdenum Cofactor Deficiency (MoCD), Rare Autosomal Recessive Disorder, Deficiency of Activity of Molybdenum-dependent Enzymes (Sulfite Oxidase [SOX], Xanthine Dehydrogenase, and Aldehyde Oxidase)
Interventions
ALXN1101, Placebo
Drug
Lead sponsor
Origin Biosciences
Industry
Eligibility
18 Years to 60 Years
Enrollment
24 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013
U.S. locations
1
States / cities
Baltimore, Maryland
Conditions
Colorectal Neoplasms
Interventions
Tepotinib, Cetuximab
Drug · Biological
Lead sponsor
EMD Serono Research & Development Institute, Inc.
Industry
Eligibility
18 Years and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
13
States / cities
Phoenix, Arizona • La Jolla, California • Santa Monica, California + 10 more
Conditions
Gene Mutations, Pseudoxanthoma Elasticum, Arterial Calcification, Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets Type 2
Interventions
INZ-701
Drug
Lead sponsor
Inozyme Pharma
Industry
Eligibility
1 Year and older
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
2
States / cities
Rochester, Minnesota • Eatontown, New Jersey
Recruiting Early Phase 1 Interventional

Serial Blood Count Study

NCT07066085
Conditions
Cyclic Neutropenia, Congenital Neutropenia, Neutropenia
Interventions
Serial Blood Count Study, Athelas Home device
Device
Lead sponsor
University of Washington
Other
Eligibility
5 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2025
U.S. locations
1
States / cities
Seattle, Washington
Conditions
Leber Congenital Amaurosis, Leber Congenital Amaurosis (LCA)
Interventions
OPGx-RDH12
Drug
Lead sponsor
Opus Genetics, Inc
Industry
Eligibility
18 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2034
U.S. locations
3
States / cities
Phoenix, Arizona • Philadelphia, Pennsylvania • Houston, Texas