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Conditions: Laxity; Skin
Interventions: Ultherapy Prime; Device
Lead sponsor: The Levine Center for Plastic Surgery; Other
Eligibility: 25 Years to 65 Years
Enrollment: 20 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2025 – 2026
U.S. locations: 1
States / cities: New York, New York

Conditions: Myasthenic Syndromes, Congenital
Interventions: 3,4-diaminopyridine; Drug
Lead sponsor: Vern C. Juel, M.D.; Other
Eligibility: Not listed
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Severe Combined Immunodeficiency (SCID), Immunodeficiency With Predominant T-cell Defect, Unspecified, Severe Chronic Neutropenia, Chronic Granulomatous Disease (CGD), Hyper IgE Syndromes, Hyper IgM Deficiencies, Wiskott-Aldrich Syndrome, Mendelian Susceptibility to Mycobacterial Disease, Common Variable Immune Deficiency (CVID)
Interventions: CD3/CD19 negative allogeneic hematopoietic stem cells; Biological
Lead sponsor: Paul Szabolcs; Other
Eligibility: 5 Years to 45 Years
Enrollment: 16 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2027
U.S. locations: 1
States / cities: Pittsburgh, Pennsylvania

Conditions: Neurofibromatosis 1, Nerve Sheath Neoplasms
Interventions: Not listed
Lead sponsor: National Cancer Institute (NCI); NIH
Eligibility: 3 Years to 120 Years
Enrollment: 225 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2035
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Parkinson Disease, Prodromal Stage, Neurodegenerative Diseases, Basal Ganglia Diseases, Central Nervous System Diseases, Synucleinopathies, Nervous System Diseases, Cerebral Disorder, Brain Diseases, Parkinsonian Disorders, Genetic Predisposition
Interventions: Increase of physical activity volume and intensity with the use of a motivational smartphone application; Behavioral
Lead sponsor: Radboud University Medical Center; Other
Eligibility: 50 Years and older
Enrollment: 600 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2029
U.S. locations: 1
States / cities: Rochester, New York

Conditions: Breast Cancer, Colorectal Cancer, Ovarian Cancer, Prostate Cancer, Pancreatic Cancer, Endometrial Cancer, History of Cancer
Interventions: Publicly available genetic testing resources, Virtual genetics navigator, Motivational interviewing (MI); Other · Behavioral
Lead sponsor: University of Michigan Rogel Cancer Center; Other
Eligibility: 18 Years and older
Enrollment: 793 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2022 – 2025
U.S. locations: 1
States / cities: Ann Arbor, Michigan

Conditions: Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Interventions: VX-407; Drug
Lead sponsor: Vertex Pharmaceuticals Incorporated; Industry
Eligibility: 18 Years to 65 Years
Enrollment: 26 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2027
U.S. locations: 26
States / cities: Alabaster, Alabama • Birmingham, Alabama • Los Angeles, California + 21 more

Conditions: Intercritical Gout
Interventions: Colchicine (Colcrys®), placebo, allopurinol; Drug
Lead sponsor: Regeneron Pharmaceuticals; Industry
Eligibility: 18 Years to 70 Years
Enrollment: 82 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2012
U.S. locations: 37
States / cities: Alabaster, Alabama • Mesa, Arizona • Upland, California + 34 more

Conditions: Hemophilia A With Inhibitors
Interventions: recombinant activated factor VII; Drug
Lead sponsor: Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico; Other
Eligibility: Up to 8 Years · Male only
Enrollment: 50 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2014
U.S. locations: 3
States / cities: Los Angeles, California • Atlanta, Georgia • Kansas City, Missouri

Conditions: Netherton Syndrome
Interventions: QRX003; Drug
Lead sponsor: Quoin Pharmaceuticals; Industry
Eligibility: 4 Years and older
Enrollment: 16 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2027
U.S. locations: 5
States / cities: Fremont, California • New Haven, Connecticut • Indianapolis, Indiana + 2 more

Conditions: Osteogenesis Imperfecta
Interventions: Bisphosphonate, Setrusumab; Drug · Biological
Lead sponsor: Ultragenyx Pharmaceutical Inc; Industry
Eligibility: 2 Years to 6 Years
Enrollment: 69 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2027
U.S. locations: 13
States / cities: Phoenix, Arizona • Los Angeles, California • Aurora, Colorado + 10 more

Conditions: BRCA1-Related Hereditary Breast and Ovarian Cancer Syndrome, BRCA2-Related Hereditary Breast and Ovarian Cancer Syndrome, Hereditary Neoplastic Syndrome, Lynch Syndrome
Interventions: Discussion, Internet-Based Intervention, Survey Administration, Telephone-Based Intervention; Other · Behavioral
Lead sponsor: University of Michigan Rogel Cancer Center; Other
Eligibility: 18 Years and older
Enrollment: 150 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2026 – 2028
U.S. locations: 1
States / cities: Ann Arbor, Michigan

Conditions: Tourette Syndrome
Interventions: Not listed
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: 14 Years to 65 Years
Enrollment: 100 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2002 – 2015
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Fuchs' Endothelial Dystrophy
Interventions: Ripasudil hydrochloride hydrate 0.4% ophthalmic solution; Drug
Lead sponsor: Marian Macsai, MD; Other
Eligibility: 18 Years to 91 Years
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2021
U.S. locations: 1
States / cities: Glenview, Illinois

Conditions: Hypogonadotropic Hypogonadism, Kallmann Syndrome, Puberty, Delayed, Puberty, Precocious, GnRH Deficiency
Interventions: Not listed
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: Not listed
Enrollment: 4,042 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1999 – 2022
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Sickle Cell Disease, Thalassemia
Interventions: Hydroxyurea, Hydroxyurea Oral Capsule; Drug
Lead sponsor: St. Jude Children's Research Hospital; Other
Eligibility: 9 Months to 18 Years
Enrollment: 1 participant
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2022
U.S. locations: 1
States / cities: Memphis, Tennessee

Conditions: Stargardt Disease
Interventions: Not listed
Lead sponsor: University of Michigan; Other
Eligibility: 5 Years to 18 Years
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2016
U.S. locations: 1
States / cities: Ann Arbor, Michigan

Conditions: Carrier State, Heat Stroke, Dehydration
Interventions: Heat Challenge; Procedure
Lead sponsor: University of Iowa; Other
Eligibility: 18 Years to 60 Years
Enrollment: 200 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2026
U.S. locations: 1
States / cities: Iowa City, Iowa

Conditions: Cystic Fibrosis, Lung Infection, Cystic Fibrosis Pulmonary Exacerbation
Interventions: Not listed
Lead sponsor: University of Washington; Other
Eligibility: 12 Years and older
Enrollment: 220 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2015
U.S. locations: 12
States / cities: Birmingham, Alabama • Tucson, Arizona • Denver, Colorado + 7 more

Conditions: Polycystic Kidney, Autosomal Dominant, Polycystic Liver Disease, Hepatomegaly, Liver Diseases, Kidney, Polycystic, Abdominal Pain
Interventions: Octreotide, Placebo; Drug
Lead sponsor: Mayo Clinic; Other
Eligibility: 18 Years to 80 Years
Enrollment: 42 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007 – 2008
U.S. locations: 1
States / cities: Rochester, Minnesota

Conditions: Niemann-Pick Disease, Type C1
Interventions: Hydroxypropyl-beta-cyclodextrin, Placebo; Drug
Lead sponsor: Cyclo Therapeutics, Inc.; Industry
Eligibility: 3 Years and older
Enrollment: 94 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2026
U.S. locations: 7
States / cities: Oakland, California • Jacksonville, Florida • Atlanta, Georgia + 4 more

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: Heterozygous Familial Hypercholesterolemia (HeFH), Homozygous Familial Hypercholesterolemia (HoFH), Familial Hypercholesterolemia
Interventions: Screening for FH; Diagnostic Test
Lead sponsor: University of Wisconsin, Madison; Other
Eligibility: 18 Years and older
Enrollment: 70 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2029
U.S. locations: 1
States / cities: Madison, Wisconsin

Conditions: Cardiac Amyloidosis
Interventions: AI ECG Amyloid algorithm; Other
Lead sponsor: Mayo Clinic; Other
Eligibility: 18 Years and older
Enrollment: 20,143 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2025
U.S. locations: 4
States / cities: Scottsdale, Arizona • Jacksonville, Florida • Rochester, Minnesota + 1 more

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Long-Term Efficacy and Duration of MFU-V at Multiple Depths and at 1.5 mm

Treatment Use of 3,4-Diaminopyridine

Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases

Surveillance for Malignant Transformation of Neurofibromatosis Type 1 (NF1) Related Peripheral Nerve Sheath Tumors (PNST)

Slow-SPEED: Slowing Parkinson's Early Through Exercise Dosage

Michigan Genetic Hereditary Testing (MiGHT)

Phase 2a Study of VX-407 in Participants With ADPKD Who Have a Subset of PKD1 Gene Variants (AGLOW)

Efficacy and Safety of Colchicine for the Prevention of Gout Flares During the Initiation of Allopurinol

rFVIIa Prophylaxis in Children With Hemophilia A and Inhibitors

Phase 2/3 Clinical Study of QRX003 Lotion in Subjects With Netherton Syndrome

Setrusumab vs Bisphosphonates in Pediatric Subjects With Osteogenesis Imperfecta

A Web-Based Program (Kindred) to Improve the Understanding of Genetic Cancer Risk and Cancer Genetic Testing in African American Families

Magnetic Resonance Spectroscopy to Evaluate Tourette s Syndrome

Glanatec(R) for Descemet Stripping in Fuch's Endothelial Dystrophy

Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders

Hydroxyurea Therapy: Optimizing Access in Pediatric Populations Everywhere

Novel Quantification Methods for Fluorescence to Detect Progression in Stargardt Disease

Genetic Risk Factor for Heat Stroke

Pilot Observational Study to Determine Feasibility of a Standardized Treatment of Pulmonary Exacerb. in Patients With CF

Octreotide in Severe Polycystic Liver Disease

Phase 3 Study to Evaluate Intravenous Trappsol(R) Cyclo(TM) in Pediatric and Adult Patients With Niemann-Pick Disease Type C1

Pancreatic Cancer Early Detection Program

The ORIGIN-FH Study

Artificial Intelligence Enhanced ECG to Detect Cardiac Amyloidosis