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Showing 1–24 of 273 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
Poikiloderma of Civatte, Dyschromia, Pigmentation Disorders, Telangiectasia, Photosensitivity Disorders
Interventions
532 nm KTP laser
Device
Lead sponsor
Cutera Inc.
Industry
Eligibility
35 Years to 65 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2013
U.S. locations
1
States / cities
Edina, Minnesota
Completed Not applicable Interventional Results available

Photocil (Topical) for the Treatment of Vitiligo

NCT01992185
Conditions
Vitiligo
Interventions
Photocil for Vitiligo, Placebo - Sunscreen (SPF 2)
Drug · Other
Lead sponsor
Applied Biology, Inc.
Industry
Eligibility
18 Years to 65 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
1
States / cities
Tucson, Arizona
Conditions
Albinism, Inborn Errors of Metabolism, Oculocutaneous Albinism, Platelet Storage Pool Deficiency, Pulmonary Fibrosis
Interventions
Pirfenidone, Placebo
Drug
Lead sponsor
William Gahl, M.D.
NIH
Eligibility
18 Years and older
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2016
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Scars, Hypopigmented Scar, Hypopigmented Skin, Burn Scar, Scarring, Cicatrix, Hypertrophic, Cicatrix, Pigmentation Disorder, Burns Laser
Interventions
Bimatoprost, Saline
Drug
Lead sponsor
Medstar Health Research Institute
Other
Eligibility
18 Years and older
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Conditions
Nonsegmental Vitiligo With Genital Involvement
Interventions
Ruxolitinib Cream
Drug
Lead sponsor
Incyte Corporation
Industry
Eligibility
18 Years and older
Enrollment
49 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
6
States / cities
Fremont, California • Los Angeles, California • Fort Gratiot, Michigan + 3 more
Conditions
Acanthosis Nigricans, Hyperinsulinemia, Spectroscopic Analysis
Interventions
Metformin, Dietary Modification
Drug · Behavioral
Lead sponsor
Henry Ford Health System
Other
Eligibility
11 Years and older
Enrollment
9 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2012
U.S. locations
1
States / cities
Detroit, Michigan
Conditions
Hyper-IgM Syndrome, Ectodermal Dysplasia
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
Not listed
Enrollment
119 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2013
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Malignant Neoplasm
Interventions
ponatinib hydrochloride, laboratory biomarker analysis
Drug · Other
Lead sponsor
Sameek Roychowdhury
Other
Eligibility
18 Years and older
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2022
U.S. locations
2
States / cities
Ann Arbor, Michigan • Columbus, Ohio
Active, not recruiting Not applicable Interventional Accepts healthy volunteers

A Pilot Study Testing Salicylic Acid Peels Versus Glycolic Acid Peels for the Treatment of Melasma

NCT01976286
Conditions
Melanosis
Interventions
Salicylic Acid Peels, Glycolic Acid Peels
Other
Lead sponsor
Northwestern University
Other
Eligibility
18 Years to 65 Years
Enrollment
21 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2028
U.S. locations
1
States / cities
Chicago, Illinois
Conditions
ICD10 Code L40.9 for Psoriasis
Interventions
Betamethasone dipropionate 0.05%, Tapinarof
Drug
Lead sponsor
Wake Forest University Health Sciences
Other
Eligibility
18 Years and older
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
1
States / cities
Winston-Salem, North Carolina
Active, not recruiting Not applicable Interventional Accepts healthy volunteers

Neonatal Pulse Oximetry Disparities Due to Skin Pigmentation

NCT06063148
Conditions
Skin Pigment, Pulse Oximetry
Interventions
Enrolled Participant
Device
Lead sponsor
University of California, Davis
Other
Eligibility
Up to 10 Days
Enrollment
163 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2026
U.S. locations
2
States / cities
Sacramento, California • Jackson, Mississippi
Conditions
Acute Kidney Injury
Interventions
MB-102-- single dose of 4 µmol/kg, MB-102-- single dose of 130 mg, MB-102-single dose of 130 mg or 2 doses of 130 mg 12 hours apart, MB-102-- two doses of 130 mg 24 hours apart, Iohexol, QuantumLeap, Radiance, Brilliance (1 or 2 sensors), Brilliance (2-part sensor)
Drug · Device
Lead sponsor
MediBeacon
Industry
Eligibility
18 Years and older
Enrollment
234 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2021
U.S. locations
3
States / cities
Edgewater, Florida • Orlando, Florida • St Louis, Missouri
Conditions
Gastrointestinal Stromal Tumors, Small-cell Lung Cancer, Adenoid Cystic Carcinoma, Uveal Melanoma, Neuroendocrine Tumors, Chromophobe Renal Cell Carcinoma, Clear Cell Renal Cell Carcinoma
Interventions
NN3201
Drug
Lead sponsor
Novelty Nobility, Inc.
Industry
Eligibility
18 Years and older
Enrollment
67 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
5
States / cities
Ann Arbor, Michigan • Cleveland, Ohio • Portland, Oregon + 2 more
Conditions
Unresectable or Metastatic Malignant Gastrointestinal Stromal Tumor (GIST)
Interventions
Imatinib mesylate
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
148 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2013
U.S. locations
3
States / cities
Boston, Massachusetts • Portland, Oregon • Philadelphia, Pennsylvania
Conditions
Inherited Ophthalmic Diseases, Hypopigmentation Disorder, Corneal Dystrophy, Blue-cone Monochromacy, Best Disease, Aniridia, Albinism
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
1 Day to 120 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2054
U.S. locations
2
States / cities
Bethesda, Maryland
Conditions
Wrinkle, Skin Pigmentation
Interventions
THDA + Acetyl Zingerone Topical Product, THDA
Other
Lead sponsor
Integrative Skin Science and Research
Industry
Eligibility
30 Years to 65 Years
Enrollment
44 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023
U.S. locations
1
States / cities
Sacramento, California
Conditions
Hypoxemia, Pulse Oximetry, Skin Pigment
Interventions
Observational
Other
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years and older
Enrollment
757 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
1
States / cities
San Francisco, California
Conditions
Vitiligo
Interventions
Ruxolitinib cream, Vehicle cream
Drug
Lead sponsor
Incyte Corporation
Industry
Eligibility
18 Years to 75 Years
Enrollment
157 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
26
States / cities
Birmingham, Alabama • Hot Springs, Arkansas • Rogers, Arkansas + 21 more
Conditions
Recurrent Basal Cell Carcinoma
Interventions
Patidegib Topical Gel, 2%, Patidegib Topical Gel, Vehicle
Drug
Lead sponsor
Sol-Gel Technologies, Ltd.
Industry
Eligibility
18 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
14
States / cities
Apple Valley, California • Colton, California • Fremont, California + 11 more
Conditions
Open Angle Glaucoma, Ocular Hypertension, Pigment Dispersion Syndrome, Pseudoexfoliation Glaucoma
Interventions
Not listed
Lead sponsor
University of Colorado, Denver
Other
Eligibility
18 Years and older
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
1
States / cities
Aurora, Colorado
Conditions
Indolent Systemic Mastocytosis
Interventions
Masitinib, Placebo, Best Supportive Care
Drug · Other
Lead sponsor
AB Science
Industry
Eligibility
18 Years to 75 Years
Enrollment
135 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2015
U.S. locations
2
States / cities
Sacramento, California • Houston, Texas
Conditions
Leber Congenital Amaurosis
Interventions
voretigene neparvovec-rzyl
Biological
Lead sponsor
Spark Therapeutics, Inc.
Industry
Eligibility
8 Years and older
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2018
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Completed Not applicable Interventional Accepts healthy volunteers

Straberi Epistamp Device for Postinflammatory Hyperpigmentation

NCT04740255
Conditions
Postinflammatory Hyperpigmentation
Interventions
Straberi Epistamp
Device
Lead sponsor
Universal Skincare Institute
Other
Eligibility
21 Years to 65 Years
Enrollment
30 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2023
U.S. locations
1
States / cities
New York, New York