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Conditions: Mucopolysaccharidosis II
Interventions: JR-141; Drug
Lead sponsor: JCR Pharmaceuticals Co., Ltd.; Industry
Eligibility: Not listed
Enrollment: 80 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2028
U.S. locations: 2
States / cities: Oakland, California • Philadelphia, Pennsylvania

Conditions: Familial Hypercholesterolemia
Interventions: 2-Hydroxybenzylamine, Placebo; Drug · Other
Lead sponsor: Vanderbilt University Medical Center; Other
Eligibility: 18 Years to 69 Years
Enrollment: 72 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2027
U.S. locations: 1
States / cities: Nashville, Tennessee

Conditions: ASCVD, Elevated Cholesterol, Heterozygous Familial Hypercholesterolemia, Homozygous Familial Hypercholesterolemia
Interventions: Inclisiran Sodium; Drug
Lead sponsor: Novartis Pharmaceuticals; Industry
Eligibility: 18 Years and older
Enrollment: 3,275 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2023
U.S. locations: 141
States / cities: Birmingham, Alabama • Foley, Alabama • Huntsville, Alabama + 109 more

Conditions: Wilson Disease
Interventions: ALXN1840; Drug
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 9 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2022
U.S. locations: 1
States / cities: New Haven, Connecticut

Conditions: Phenylketonuria
Interventions: Restricted phenylalanine diet; Behavioral
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 0 Years and older · Female only
Enrollment: 572 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 1984 – 2000
U.S. locations: 3
States / cities: Los Angeles, California • Chicago, Illinois • Galveston, Texas

Conditions: Cystinosis
Interventions: Cysteamine; Drug
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 1 Week to 115 Years
Enrollment: 330 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 1979
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Rheumatoid Arthritis, Ankylosing Spondylitis, Fibromyalgia, Gout, Crohn Disease, Juvenile Idiopathic Arthritis, Lupus Erythematosus, Myositis, Osteoarthritis, Osteoporosis, Psoriasis, Psoriatic Arthritis, Scleroderma, Dermatomyositis, Inflammatory Bowel Diseases, Polymyositis, Axial Spondyloarthritis, Diffuse Idiopathic Skeletal Hyperostosis, Polymyalgia Rheumatica, Giant Cell Arteritis, Temporal Arteritis, Wegener, Relapsing Polychondritis, Undifferentiated Connective Tissue Disease, Spinal Cord Injuries, Alzheimer Disease, Amyotrophic Lateral Sclerosis, Ataxia, Bell Palsy, Brain Tumor, Cerebral Aneurysm, Epilepsy, Guillain-Barre Syndrome, Headache, Head Injury, Hydrocephalus, Lumbar Disc Disease, Meningitis, Multiple Sclerosis, Muscular Dystrophy, Neurocutaneous Syndromes, Parkinson Disease, Stroke, Cluster Headache, Tension-Type Headache, Chronic Obstructive Pulmonary Disease, Asthma, Lung Cancer, Cystic Fibrosis, Sleep Apnea, Eczema, Alopecia, Chronic Inflammation, Unstable Angina, Heart Attack, Heart Failure, Arrythmia, Valve Heart Disease, High Blood Pressure, Congenital Heart Disease, Peripheral Arterial Disease, Diabetes, Chronic Liver Disease, Obesity
Interventions: Not listed
Lead sponsor: Global Healthy Living Foundation; Other
Eligibility: 19 Years and older
Enrollment: 40,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2015 – 2025
U.S. locations: 1
States / cities: Upper Nyack, New York

Conditions: Urea Cycle Disorder
Interventions: Not listed
Lead sponsor: Amgen; Industry
Eligibility: Not listed
Enrollment: 203 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2020
U.S. locations: 1
States / cities: Blue Bell, Pennsylvania

Conditions: Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type C1
Interventions: Not listed
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 6 Months to 110 Years
Enrollment: 73 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2025
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome)
Interventions: zagociguat 15mg; Drug
Lead sponsor: Tisento Therapeutics; Industry
Eligibility: Not listed
Enrollment: 44 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2028
U.S. locations: 9
States / cities: La Jolla, California • Aurora, Colorado • Atlanta, Georgia + 5 more

Conditions: Hypertriglyceridemia, Hyperlipoproteinemia Type IV
Interventions: torcetrapib/atorvastatin, atorvastatin; Drug
Lead sponsor: Pfizer; Industry
Eligibility: 18 Years and older
Enrollment: 160 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2006
U.S. locations: 39
States / cities: Anaheim, California • Huntington Beach, California • Los Angeles, California + 36 more

Conditions: Brain Diseases, Metabolic, Inborn, Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency
Interventions: Not listed
Lead sponsor: Andrea Gropman; Other
Eligibility: 18 Years to 60 Years
Enrollment: 46 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2007 – 2010
U.S. locations: 2
States / cities: Washington D.C., District of Columbia

Conditions: Schizo-affective Disorder, Bipolar Disorder
Interventions: Glycine, placebo; Drug
Lead sponsor: Mclean Hospital; Other
Eligibility: 18 Years to 65 Years
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2017
U.S. locations: 1
States / cities: Belmont, Massachusetts

Conditions: Gaucher Disease, Type 3
Interventions: No intervention; Other
Lead sponsor: University of Minnesota; Other
Eligibility: 18 Years to 80 Years
Enrollment: 5 participants
Timeline: 2023 – 2026
U.S. locations: 1
States / cities: Minneapolis, Minnesota

Conditions: Hunter Syndrome
Interventions: Control, Idursulfase IT (1 mg), Idursulfase IT (10 mg), Idursulfase IT (30 mg); Other · Drug
Lead sponsor: Shire; Industry
Eligibility: 3 Years to 18 Years · Male only
Enrollment: 16 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2012
U.S. locations: 1
States / cities: Chapel Hill, North Carolina

Conditions: Neurodegenerative Diseases, Leukodystrophy, Ataxia, LBSL, Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder), Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation, Cerebellar Ataxia, Adrenomyeloneuropathy
Interventions: Home exercise; Behavioral
Lead sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.; Other
Eligibility: 5 Years to 75 Years
Enrollment: 30 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2023 – 2028
U.S. locations: 1
States / cities: Baltimore, Maryland

Conditions: Lysosomal Storage Disorders, Gaucher Disease, Parkinson Disease
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 1 Week to 110 Years
Enrollment: 1,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: Started 1995
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Iron Overload
Interventions: Not listed
Lead sponsor: Boston Children's Hospital; Other
Eligibility: 5 Years and older
Enrollment: 38 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007 – 2010
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Fabry Disease
Interventions: DRX005B; Drug
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: Not listed
Enrollment: 3 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2002 – 2003
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Long QT Syndrome, Familial Hypercholesterolemia, Ethics, Genetic Testing
Interventions: Direct contact of family members for cascade screening of relevant variants; Behavioral
Lead sponsor: University of Maryland, Baltimore; Other
Eligibility: 18 Years and older
Enrollment: 200 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2027
U.S. locations: 1
States / cities: Lancaster, Pennsylvania

Conditions: Hypophosphatasia
Interventions: asfotase alfa; Drug
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: 1 Minute to 5 Years
Enrollment: 69 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2016
U.S. locations: 3
States / cities: Oakland, California • Cincinnati, Ohio • Pittsburgh, Pennsylvania

Conditions: Cystinosis
Interventions: Not listed
Lead sponsor: National Center for Research Resources (NCRR); NIH
Eligibility: 0 Years and older
Enrollment: 400 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 1999
U.S. locations: 1
States / cities: La Jolla, California

Conditions: Pompe Disease (Late-onset)
Interventions: zocaglusagene nuzaparvovec; Genetic
Lead sponsor: Astellas Gene Therapies; Industry
Eligibility: 18 Years to 80 Years
Enrollment: 11 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2035
U.S. locations: 3
States / cities: Orange, California • Palo Alto, California • Salt Lake City, Utah

Conditions: Glycogen Storage Disease Type II (GSD-II), Pompe Disease (Late-onset), Glycogenesis 2 Acid Maltase Deficiency
Interventions: Not listed
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: Female only
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007 – 2034
U.S. locations: 15
States / cities: Phoenix, Arizona • Jacksonville, Florida • Atlanta, Georgia + 10 more

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An Extension Study of JR-141 to Evaluate the Long-term Safety and Efficacy in MPS II (Hunter Syndrome) Subjects

2-Hydroxybenzylamine (2-HOBA) to Reduce HDL Modification and Improve HDL Function in Familial Hypercholesterolemia (FH)

Trial to Assess the Effect of Long Term Dosing of Inclisiran in Subjects With High CV Risk and Elevated LDL-C

Copper and Molybdenum Balance in Participants With Wilson Disease Treated With ALXN1840

Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU)

Use of Cysteamine in the Treatment of Cystinosis

PatientSpot Formerly Known as ArthritisPower

Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)

Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls

An Open-label Extension Safety Study of MELAS Patients Who Completed TIS6463-203 (PRIZM)

A Study Comparing The Efficacy & Safety Of Torcetrapib/Atorvastatin And Atorvastatin In Subjects With High Triglycerides

Neurologic Injuries in Adults With Urea Cycle Disorders

Neurobiology of a Mutation in Glycine Metabolism in Psychotic Disorders

MAGNETIC RESONANCE SPECTROSCOPY BIOMARKERS IN TYPE 3 GAUCHER DISEASE (GD3)

A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®

Home Exercise for Individuals With Neurodegenerative Disease

Genetic Studies of Lysosomal Storage Disorders

Iron Overload in Stem Cell Transplant Recipients

Alpha-Galactosidase A Replacement Therapy for Fabry Disease

Comparing Direct vs Indirect Methods for Cascade Screening

Open-Label Study of Asfotase Alfa in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP)

Establishment of a Database for Long-Term Monitoring of Patients With Nephropathic Cystinosis

Gene Transfer Study in Patients With Late Onset Pompe Disease

Pompe Pregnancy Sub-Registry