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Conditions: RAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines, Noonan Neurofibromatosis Syndrome, Cardiofaciocutaneous Syndrome, Costello Syndrome, Legius Syndrome, Smith-Kingsmore Syndrome, MTOR Gene Mutation, GATOR-1 Gene Mutation, SYNGAP1-Related Intellectual Disability, DLG4, MAPK1 Gene Mutation
Interventions: Not listed
Lead sponsor: Children's Hospital Medical Center, Cincinnati; Other
Eligibility: Not listed
Enrollment: 1,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2017 – 2065
U.S. locations: 1
States / cities: Cincinnati, Ohio

Conditions: Vitiligo
Interventions: Cerdulatinib 0.37% gel, Vehicle gel; Drug
Lead sponsor: Dermavant Sciences GmbH; Industry
Eligibility: 18 Years and older
Enrollment: 33 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2020
U.S. locations: 2
States / cities: Irvine, California • Worcester, Massachusetts

Conditions: Chediak-Higashi Syndrome
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 1 Month to 70 Years
Enrollment: 60 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2002
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Vitiligo
Interventions: Bimatoprost, Excimer laser, Microneedling with a dermaroller; Drug · Device
Lead sponsor: Medical University of South Carolina; Other
Eligibility: 18 Years and older
Enrollment: 4 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2021 – 2022
U.S. locations: 1
States / cities: Charleston, South Carolina

Conditions: Retinal Diseases, Telangiectasis
Interventions: ranibizumab 2.0mg; Drug
Lead sponsor: Eye Center of Northern Colorado, P.C.; Other
Eligibility: 18 Years and older
Enrollment: 6 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2012
U.S. locations: 1
States / cities: Fort Collins, Colorado

Conditions: Vitiligo
Interventions: Narrowband UVB; Device
Lead sponsor: Mary Sullivan-Whalen; Other
Eligibility: 18 Years and older
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2006 – 2007
U.S. locations: 1
States / cities: New York, New York

Conditions: Macular Pigmentation, Skin Pigment
Interventions: Carotenoid measurements; Other
Lead sponsor: University of Utah; Other
Eligibility: 7 Years and older
Enrollment: 10,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2015 – 2030
U.S. locations: 1
States / cities: Salt Lake City, Utah

Conditions: Photoaging, Hyperpigmentation, Rhytides
Interventions: 1% red maple leaf extract in cream base, 5% red maple leaf extract, vehicle; Combination Product
Lead sponsor: Integrative Skin Science and Research; Industry
Eligibility: 30 Years to 70 Years · Female only
Enrollment: 19 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2019 – 2020
U.S. locations: 1
States / cities: Sacramento, California

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: Vitiligo
Interventions: Dermabrasion-Micrografting, Dermabrasion; Device · Procedure
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: 18 Years to 80 Years
Enrollment: 3 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2013
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Hermansky Pudlak Syndrome, Interstitial Lung Disease
Interventions: Pirfenidone; Drug
Lead sponsor: Jesse Roman; Other
Eligibility: 18 Years to 75 Years
Enrollment: 50 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2022
U.S. locations: 1
States / cities: Philadelphia, Pennsylvania

Conditions: Pancreas Cancer, Peutz-Jeghers Syndrome (PJS), Gene Mutation, Germline Mutation Carrier, Lynch Syndrome
Interventions: Secretin, MRI, Tumor marker gene test with CA19-9; Drug · Diagnostic Test · Other
Lead sponsor: Johns Hopkins University; Other
Eligibility: 18 Years and older
Enrollment: 9,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2029
U.S. locations: 9
States / cities: New Haven, Connecticut • Baltimore, Maryland • Boston, Massachusetts + 5 more

Conditions: Laxity; Skin
Interventions: On GLP1 plus HRT, On GLP1 Only; Drug
Lead sponsor: Goldman, Butterwick, Fitzpatrick and Groff; Other
Eligibility: 45 Years to 65 Years · Female only
Enrollment: 50 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2026
U.S. locations: 1
States / cities: San Diego, California

Conditions: Post Inflammatory Hyperpigmentation
Interventions: Pigment Balancing Peel, Discoloration Defense Serum, LHA Cleansing Gel, Hydrating B5 Gel, Daily Brightening Sunscreen; Other
Lead sponsor: Narrows Institute for Biomedical Research; Other
Eligibility: 18 Years and older
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025
U.S. locations: 1
States / cities: Brooklyn, New York

Conditions: Skin Cancer
Interventions: Optical Spectroscopy; Device
Lead sponsor: University of California, Irvine; Other
Eligibility: 18 Years and older
Enrollment: 37 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2008 – 2013
U.S. locations: 2
States / cities: Irvine, California • Orange, California

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: Primary Open Angle Glaucoma, Ocular Hypertension, Pseudo-Exfoliative Glaucoma, Pigment Dispersion Glaucoma
Interventions: Selective laser trabeculoplasty; Procedure
Lead sponsor: Glaucoma Research & Education Group; Other
Eligibility: 0 Years and older
Healthy volunteers: Accepts healthy volunteers
Timeline: Started 2006
U.S. locations: 1
States / cities: San Francisco, California

Conditions: Vitiligo
Interventions: Needling, Triamcinolone; Procedure · Drug
Lead sponsor: Rutgers, The State University of New Jersey; Other
Eligibility: 18 Years to 89 Years
Enrollment: 22 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2018
U.S. locations: 1
States / cities: Somerset, New Jersey

Conditions: Vitiligo
Interventions: Upadacitinib, Placebo, NB-UVB (narrow-band ultraviolet B) Phototherapy; Drug · Other
Lead sponsor: AbbVie; Industry
Eligibility: 12 Years and older
Enrollment: 614 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2028
U.S. locations: 46
States / cities: Glendale, Arizona • Phoenix, Arizona • Encino, California + 35 more

Conditions: Acne, Acne Scars - Mixed Atrophic and Hypertrophic, Scars, Wrinkle, Pigment; Lesion, Skin Texture Disorder
Interventions: AVAVA; Device
Lead sponsor: AVAVA, Inc.; Industry
Eligibility: 18 Years to 70 Years
Enrollment: 200 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2024 – 2027
U.S. locations: 1
States / cities: Waltham, Massachusetts

Conditions: Melasma
Interventions: PiQo4; Device
Lead sponsor: Focus Medical, LLC; Industry
Eligibility: 18 Years to 75 Years · Female only
Enrollment: 20 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2018 – 2019
U.S. locations: 1
States / cities: Hackensack, New Jersey

Conditions: Pancreatic Cancer, Pancreas Cancer, Pancreatic Adenocarcinoma, Familial Pancreatic Cancer, BRCA 1/2, HNPCC, Lynch Syndrome, Hereditary Pancreatitis, FAMMM, Familial Atypical Multiple Mole Melanoma, Peutz Jeghers Syndrome
Interventions: Endoscopic Ultrasound, Magnetic Resonance Imaging (MRI); Procedure
Lead sponsor: White Plains Hospital; Other
Eligibility: 18 Years and older
Enrollment: 181 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2024
U.S. locations: 1
States / cities: White Plains, New York

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: Hermansky-Pudlak Syndrome (HPS)
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 1 Month to 115 Years
Enrollment: 600 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 1995
U.S. locations: 1
States / cities: Bethesda, Maryland

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RASopathy Biorepository

Safety and Tolerability Study of Cerdulatinib Gel, 0.37% in Adults With Vitiligo

Study of Chediak-Higashi Syndrome

Effect of Microneedling, Bimatoprost and Excimer in Vitiligo Treatment

High-Dose Lucentis (Ranibizumab 2.0mg) for the Treatment of Nonproliferative Idiopathic Parafoveal Telangiectasia

Narrowband UVB Treatment in Patients With Vitiligo

Macular Pigment Measurements in Eye & Other Tissues

Randomized, Double-Blind Evaluation of Maple Leaf Extract (Maplifa) for Photoaging

Prospective Study of Topical Vitamin C (THDA) Versus Topical Vitamin C (THDA) With Acetyl Zingerone

A New Micrografting Technique for Vitiligo

Efficacy and Safety of Pirfenidone Treatment in HPS-ILD

The Cancer of the Pancreas Screening-5 CAPS5)Study

Evaluate the Safety and Efficacy of AGE Serum in Post-menopausal Patients on Hormone Replacement Therapy Taking Glucagon-like Peptide-1 Agonist

A Novel Regimen for Treatment and Prevention of Post-Inflammatory Hyperpigmentation in Skin of Color

A Pilot Study to Evaluate Optical Spectroscopy of Pigmented Skin Lesions

Spectroscopic and Colorimetric Analysis of Acanthosis Nigricans in Patients With Hyperinsulinemia

The Efficacy of Selective Laser Trabeculoplasty

Assessing the Efficacy of Needling With or Without Corticosteroids in the Repigmentation of Vitiligo

A Study To Assess Adverse Events and Effectiveness of Upadacitinib Oral Tablets in Adult and Adolescent Participants With Vitiligo

AVAVA MIRIA General Use

Efficacy and Safety of PiQo4 Device for Treatment of Melasma

Pancreatic Cancer Early Detection Program

Early Check: Expanded Screening in Newborns

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome