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Conditions: Port Wine Stain
Interventions: Not listed
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: 18 Years to 80 Years
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2012
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Epidermolysis Bullosa (EB), Epidermolysis Bullosa Simplex, Dystrophic Epidermolysis Bullosa, Junctional Epidermolysis Bullosa
Interventions: Diacerein 1% Ointment; Drug
Lead sponsor: Castle Creek Pharmaceuticals, LLC; Industry
Eligibility: 4 Years and older
Enrollment: 11 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2019
U.S. locations: 3
States / cities: Palo Alto, California • Chicago, Illinois • Chapel Hill, North Carolina

Conditions: Mucopolysaccharidosis II
Interventions: AGT-182; Drug
Lead sponsor: ArmaGen, Inc; Industry
Eligibility: 18 Years and older · Male only
Enrollment: 6 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2017
U.S. locations: 3
States / cities: Oakland, California • Orange, California • Decatur, Georgia

Conditions: Epidermolysis Bullosa Dystrophica, Recessive, Epidermolysis Bullosa Dystrophica, Dominant
Interventions: QR-313, Placebo; Drug
Lead sponsor: Phoenicis Therapeutics; Industry
Eligibility: 4 Years and older
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018
U.S. locations: 4
States / cities: Palo Alto, California • Aurora, Colorado • Minneapolis, Minnesota + 1 more

Conditions: Atopic Dermatitis
Interventions: Not listed
Lead sponsor: Columbia University; Other
Eligibility: Up to 18 Years
Enrollment: 114 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2017
U.S. locations: 1
States / cities: New York, New York

Conditions: Hereditary Angioedema
Interventions: Recombinant human C1 inhibitor, Placebo; Biological · Other
Lead sponsor: Pharming Technologies B.V.; Industry
Eligibility: 13 Years and older
Enrollment: 32 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2016
U.S. locations: 4
States / cities: Tampa, Florida • St Louis, Missouri • Lake Oswego, Oregon

Conditions: Osteogenesis Imperfecta
Interventions: Humatrope; Drug
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 3 Years to 16 Years
Enrollment: 42 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1991 – 2017
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Congenital Bleeding Disorder, Haemophilia A
Interventions: turoctocog alfa pegol; Drug
Lead sponsor: Novo Nordisk A/S; Industry
Eligibility: 12 Years and older · Male only
Enrollment: 50 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2018
U.S. locations: 8
States / cities: Orlando, Florida • Iowa City, Iowa • East Lansing, Michigan + 5 more

Conditions: Hereditary Angioedema
Interventions: C1 Esterase Inhibitor; Drug
Lead sponsor: CSL Behring; Industry
Eligibility: 6 Years and older
Enrollment: 57 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2010
U.S. locations: 13
States / cities: Weston, Florida • Atlanta, Georgia • Idaho Falls, Idaho + 10 more

Conditions: Atopic Dermatitis, Eczema, Healthy
Interventions: GENEActiv Accelerometry Device, Centrepoint Insights Watch (CPIW) Accelerometry Device, Apple Watch Accelerometry Device, Polysomnography, Videography; Device
Lead sponsor: SymmetryScience Group, Inc.; Industry
Eligibility: 12 Years to 75 Years
Enrollment: 88 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2022 – 2023
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Acute Gouty Arthritis
Interventions: Canakinumab pre-filled syringe, Canakinumab lyophilized powder, Triamcinolone Acetonide, Placebo; Drug
Lead sponsor: Novartis Pharmaceuticals; Industry
Eligibility: 18 Years to 85 Years
Enrollment: 397 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2012
U.S. locations: 69
States / cities: Anniston, Alabama • Gulf Shores, Alabama • Mobile, Alabama + 62 more

Conditions: Alzheimer's Disease, Huntington's Disease
Interventions: Dimebon IR, Dimebon Transdermal; Drug
Lead sponsor: Pfizer; Industry
Eligibility: 50 Years to 85 Years
Enrollment: 19 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2009 – 2010
U.S. locations: 1
States / cities: Kalamazoo, Michigan

Conditions: MPS IIIB (Sanfilippo Syndrome)
Interventions: Not listed
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: Not listed
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2015
U.S. locations: 1
States / cities: Pittsburgh, Pennsylvania

Conditions: Advanced Solid Tumors, Metastatic Solid Tumors
Interventions: BGJ398, BYL719; Drug
Lead sponsor: Novartis Pharmaceuticals; Industry
Eligibility: 18 Years and older
Enrollment: 62 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2016
U.S. locations: 7
States / cities: Tampa, Florida • Ann Arbor, Michigan • Detroit, Michigan + 4 more

Conditions: Netherton Syndrome
Interventions: DS-2325a, Placebo; Drug
Lead sponsor: Daiichi Sankyo; Industry
Eligibility: 18 Years to 50 Years
Enrollment: 24 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2022 – 2023
U.S. locations: 1
States / cities: Miami, Florida

Conditions: Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy, AMN, ALD, ALD (Adrenoleukodystrophy), X-linked Adrenoleukodystrophy, X-ALD, Adrenomyeloneuropathy, Aicardi Goutieres Syndrome, AGS, Alexander Disease, Alexanders Leukodystrophy, AxD, ADLD, Canavan Disease, CTX, Cerebrotendinous Xanthomatoses, Krabbe Disease, GALC Deficiency, Globoid Leukodystrophy, TUBB4A-Related Leukodystrophy, H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum, HBSL, HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity, LBSL, Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder), Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation, ALSP, CSF1R Gene Mutation, HCC - Hypomyelination and Congenital Cataract, MLC1, Megalencephalic Leukoencephalopathy With Subcortical Cysts 1, MLD, Metachromatic Leukodystrophy, PMD, Pelizaeus-Merzbacher Disease, PLP1 Null Syndrome, PLP1 Gene Duplication &#X7C; Blood or Tissue &#X7C; Mutations, Pelizaeus-Merzbacher-Like Disease, 1, Peroxisomal Biogenesis Disorder, Zellweger Syndrome, Refsum Disease, Salla Disease, Sialic Storage Disease, Sjögren, Sjogren-Larsson Syndrome, Van Der Knapp Disease, Vanishing White Matter Disease, Charcot-Marie-Tooth, CMT, Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency, Allan-Herndon-Dudley Syndrome, Cadasil, Cockayne Syndrome, Multiple Sulfatase Deficiency, Gangliosidoses, GM2 Gangliosidosis, BPAN, Labrune Syndrome, LCC, Mucopolysaccharidoses, TBCK-Related Intellectual Disability Syndrome
Interventions: Not listed
Lead sponsor: Children's Hospital of Philadelphia; Other
Eligibility: Up to 18 Years
Enrollment: 236 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2024
U.S. locations: 1
States / cities: Philadelphia, Pennsylvania

Conditions: Atopic Dermatitis
Interventions: Tacrolimus Ointment 0.1%, Protopic® ointment, 0.1%, Placebo of Tacrolimus Ointment; Drug
Lead sponsor: Glenmark Pharmaceuticals Ltd. India; Industry
Eligibility: 18 Years and older
Enrollment: 1,110 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2016
U.S. locations: 60
States / cities: Tempe, Arizona • Anaheim, California • Bell Gardens, California + 43 more

Conditions: Breast Cancer
Interventions: 3D mammograpgy system; Device
Lead sponsor: Hologic, Inc.; Industry
Eligibility: 40 Years and older · Female only
Enrollment: 110 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2010
U.S. locations: 1
States / cities: Iowa City, Iowa

Conditions: Homocystinuria Due to CBS Deficiency
Interventions: Not listed
Lead sponsor: Travere Therapeutics, Inc.; Industry
Eligibility: 1 Year to 65 Years
Enrollment: 110 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2026
U.S. locations: 7
States / cities: Aurora, Colorado • Washington D.C., District of Columbia • Atlanta, Georgia + 4 more

Conditions: Non-small Cell Lung Cancer, Head and Neck Cancer, Esophageal Cancer, Other Metastatic Solid Tumors
Interventions: JAB-3068; Drug
Lead sponsor: Jacobio Pharmaceuticals Co., Ltd.; Industry
Eligibility: 18 Years and older
Enrollment: 38 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2022
U.S. locations: 4
States / cities: Denver, Colorado • Sarasota, Florida • Nashville, Tennessee + 1 more

Conditions: Mucopolysaccharidosis I (MPS I)
Interventions: Not listed
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: Not listed
Enrollment: 1,406 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2003 – 2024
U.S. locations: 53
States / cities: Phoenix, Arizona • Little Rock, Arkansas • Los Angeles, California + 44 more

Conditions: Mucopolysaccharidosis II
Interventions: lymphocyte gene therapy; Genetic
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 18 Years and older
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 1996
U.S. locations: 1
States / cities: Minneapolis, Minnesota

Conditions: Fabry's Disease
Interventions: Not listed
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: Not listed
Enrollment: 325 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 1995 – 2008
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: PORT WINE STAIN
Interventions: Image-guided remove Port Wine Stain; Device
Lead sponsor: University of California, Irvine; Other
Eligibility: 1 Day and older
Enrollment: 69 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2018
U.S. locations: 1
States / cities: Irvine, California

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Optical Frequency Domain Imaging (OFDI) in Dermatology

To Evaluate the Pharmacokinetic of Diacerein and Rhein After Maximum Use in Patients With Epidermolysis Bullosa (EB)

Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter Syndrome

A Double-blind, Randomized, Intra-subject Placebo-controlled, Multicenter, Multiple Dose Study, Evaluating Safety, Proof of Mechanism, Preliminary Efficacy and Systemic Exposure in Subjects With Confirmed DDEB or RDEB Diagnosis With One or More Pathogenic Mutations in Exon 73 in the COL7A1 Gene

S. Aureus Colonization in Atopic Dermatitis

A Phase 2 HAE Prophylaxis Study With Recombinant Human C1 Inhibitor

Growth Hormone Therapy in Osteogenesis Imperfecta

Safety, Tolerability, and Pharmacokinetics Study of Turoctocog Alfa Pegol Injected Under the Skin in Patients With Haemophilia A

C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study)

Atopic Dermatitis With Accelerometry and Polysomnography (ADAP)

Safety and Efficacy of Canakinumab Prefilled Syringes in Frequently Flaring Acute Gouty Arthritis Patients

A Study Evaluating The Absorption Of Dimebon Into The Body From A Dimebon Solution Applied To The Skin

A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB

Phase 1b Trial of BGJ398/BYL719 in Solid Tumors

A Study to Assess the Safety and Pharmacokinetics of Multiple Ascending Subcutaneous Doses of DS-2325a in Healthy Subjects

LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies

To Study Generic Tacrolimus Ointment, 0.1% in the Treatment of Moderate to Severe Atopic Dermatitis (Inflammation of Skin: Itchy, Red, Swollen, and Cracked Skin)

A Comparison of the 15 and 30 Acquisition Angle Breast Tomosynthesis Mammography for Breast Abnormalities

Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)

A First in Human, Dose Escalation Study of JAB-3068 （SHP2 Inhibitor） in Adult Patients With Advanced Solid Tumors

Mucopolysaccharidosis I (MPS I) Registry

Phase I/II Study of Retroviral-Mediated Transfer of Iduronate-2-Sulfatase Gene Into Lymphocytes of Patients With Mucopolysaccharidosis II (Mild Hunter Syndrome)

Analysis of the Nervous System in Patients With Fabry's Disease

Monitoring the Response of Port Wine Stain Birthmarks to Laser Therapy With Wide-field Functional Imaging Technologies