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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
Recruiting Not applicable Interventional Accepts healthy volunteers

Exercise, Brain Activity, and Weight Maintenance

NCT06511310
Conditions
Obesity, Weight Gain, Bariatric Surgery Candidate, Appetitive Behavior
Interventions
Exercise
Other
Lead sponsor
Joslin Diabetes Center
Other
Eligibility
18 Years to 70 Years
Enrollment
15 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2027
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Frontotemporal Dementia, Dementia, Multi-Infarct Dementia, Vascular Dementia, Mixed Dementia, Alzheimer Disease, Lewy Body Disease, Pick Disease, Neurocognitive Disorders
Interventions
Care of Older Persons in their Environment (COPE) online module training
Behavioral
Lead sponsor
University of Pennsylvania
Other
Eligibility
21 Years to 100 Years
Enrollment
85 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2024
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Active, not recruiting Not applicable Interventional Accepts healthy volunteers

Does EVOO Induce Gene and Metabolic Changes in Healthy Subjects

NCT05929924
Conditions
Alzheimer Disease
Interventions
Extra virgin olive oil
Dietary Supplement
Lead sponsor
Augusta University
Other
Eligibility
30 Years to 55 Years
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2025
U.S. locations
1
States / cities
Augusta, Georgia
Conditions
Parkinson Disease
Interventions
INS-GSH, Matched Placebos
Drug
Lead sponsor
Gateway Institute for Brain Research
Industry
Eligibility
30 Years and older
Enrollment
56 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
4
States / cities
Davie, Florida • Hialeah, Florida • Miami, Florida + 1 more
Completed Not applicable Interventional Accepts healthy volunteers

WeCareAdvisor Study for Caregivers of People Living With Dementia

NCT05012410
Conditions
Dementia, Caregiver Burnout, Caregiver Stress Syndrome, Alzheimer Disease, Frontotemporal Dementia, Vascular Dementia, Dementia With Lewy Bodies
Interventions
Immediate treatment group with High-Intensity Prompts, Immediate treatment group with Low-Intensity Prompts, Waitlist Control after three months with High-Intensity Prompts, Waitlist Control after three months with Low-Intensity Prompts
Behavioral
Lead sponsor
Drexel University
Other
Eligibility
21 Years and older
Enrollment
262 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2024
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Conditions
Wilson Disease
Interventions
ALXN1840
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
18 Years and older
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2018
U.S. locations
4
States / cities
Los Angeles, California • New Haven, Connecticut • Chicago, Illinois + 1 more
Conditions
Shoulder Arthoscopy, Beach Chair Position, Cerebral Desaturation Events, Obese
Interventions
Thigh High Compression Stockings
Other
Lead sponsor
Loyola University
Other
Eligibility
18 Years and older
Enrollment
66 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2019
U.S. locations
1
States / cities
Maywood, Illinois
Completed Not applicable Interventional Accepts healthy volunteers Results available

Support Via Technology: Living and Learning With Advancing FTD

NCT05338710
Conditions
Caregivers Burnout, Frontotemporal Dementia
Interventions
STELLA-FTD
Other
Lead sponsor
Oregon Health and Science University
Other
Eligibility
18 Years to 100 Years
Enrollment
16 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2022
U.S. locations
1
States / cities
Portland, Oregon
Conditions
Fabry Disease
Interventions
Pegunigalsidase alfa
Biological
Lead sponsor
Protalix
Industry
Eligibility
18 Years to 60 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
7
States / cities
Birmingham, Alabama • Atlanta, Georgia • Iowa City, Iowa + 4 more
Conditions
Gaucher Disease, Type 1
Interventions
Not listed
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
16 Years to 65 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
1
States / cities
New York, New York
Completed Phase 4 Interventional Results available

Growth and Development Study of Alglucosidase Alfa

NCT00486889
Conditions
Pompe Disease, Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease
Interventions
alglucosidase alfa
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Up to 24 Months
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2021
U.S. locations
3
States / cities
Gainesville, Florida • Decatur, Georgia • Detroit, Michigan
Conditions
Homocystinuria Due to Cystathionine Beta-Synthase Deficiency
Interventions
Pegtarviliase IV, Pegtarviliase SC
Drug
Lead sponsor
Aeglea Biotherapeutics
Industry
Eligibility
12 Years and older
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Dallas, Texas
Conditions
Friedreich Ataxia
Interventions
Omaveloxolone
Drug
Lead sponsor
Biogen
Industry
Eligibility
16 Years and older
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2029
U.S. locations
4
States / cities
Los Angeles, California • Aurora, Colorado • Gainesville, Florida + 1 more
Completed Not applicable Interventional

Brain, Appetite, Teens, and Exercise

NCT03783390
Conditions
Energy Balance, Appetitive Behavior, Obesity
Interventions
Exercise Intervention, Newsletter
Behavioral
Lead sponsor
Children's Mercy Hospital Kansas City
Other
Eligibility
14 Years to 17 Years
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
1
States / cities
Kansas City, Missouri
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
Brain and Central Nervous System Tumors, Chronic Myeloproliferative Disorders, Leukemia, Lymphoma, Lymphoproliferative Disorder, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes, Myelodysplastic/Myeloproliferative Neoplasms, Unspecified Adult Solid Tumor, Protocol Specific
Interventions
3'-deoxy-3'-[18F]fluorothymidine
Device
Lead sponsor
Barbara Ann Karmanos Cancer Institute
Other
Eligibility
18 Years to 120 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2028
U.S. locations
1
States / cities
Detroit, Michigan
Conditions
Malnutrition
Interventions
Supplement
Dietary Supplement
Lead sponsor
Tufts University
Other
Eligibility
24 Months to 84 Months
Enrollment
80 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Hepatic Encephalopathy, Cirrhosis, Liver
Interventions
FMT, Placebo
Drug · Other
Lead sponsor
Virginia Commonwealth University
Other
Eligibility
21 Years to 75 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2018
U.S. locations
2
States / cities
Richmond, Virginia
Conditions
Mild Cognitive Impairment, Alzheimer's Disease
Interventions
Regular Insulin, Placebo
Drug
Lead sponsor
University of Washington
Other
Eligibility
55 Years and older
Enrollment
173 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2011
U.S. locations
1
States / cities
Seattle, Washington
Recruiting Early Phase 1 Interventional Accepts healthy volunteers

Study of Biodistribution, Metabolism, Excretion and Brain Uptake11C-M503

NCT06303921
Conditions
Tauopathies
Interventions
11C-M503 PET, Brain MRI, Amyloid PET, Neurological assessments
Drug · Diagnostic Test · Behavioral
Lead sponsor
University of Pennsylvania
Other
Eligibility
40 Years to 85 Years
Enrollment
70 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2029
U.S. locations
3
States / cities
New Haven, Connecticut • St Louis, Missouri • Philadelphia, Pennsylvania
Conditions
Hypopituitarism, Hypogonadism, Thyroid Dysfunction, Bone Diseases, Metabolic
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
2 Years to 24 Years
Enrollment
62 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2018
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Diabetes Type 2, Dementia
Interventions
Estradiol patch
Drug
Lead sponsor
Wake Forest University Health Sciences
Other
Eligibility
60 Years to 80 Years · Female only
Enrollment
12 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2021
U.S. locations
1
States / cities
Winston-Salem, North Carolina
Conditions
Intracranial Central Nervous System Disorder, Mental Disorder, Healthy
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
6 Years to 90 Years
Enrollment
949 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2001 – 2010
U.S. locations
1
States / cities
Bethesda, Maryland