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Conditions: GM1 Gangliosidosis
Interventions: LYS-GM101; Genetic
Lead sponsor: LYSOGENE; Industry
Eligibility: Up to 3 Years
Enrollment: 5 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2023
U.S. locations: 1
States / cities: Orange, California

Conditions: Mucopolysaccharidosis IVA, Morquio A Syndrome, MPS IVA
Interventions: BMN 110; Drug
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: 7 Years and older
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2014
U.S. locations: 4
States / cities: Oakland, California • Chicago, Illinois • New York, New York + 1 more

Conditions: Fabry Disease, Proteinuria
Interventions: Not listed
Lead sponsor: University of Alabama at Birmingham; Other
Eligibility: 14 Years to 95 Years
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2001 – 2006
U.S. locations: 1
States / cities: Birmingham, Alabama

Conditions: Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome, Adrenoleukodystrophy, AMN, ALD, ALD Gene Mutation, 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, MLD, Metachromatic Leukodystrophy, PMD, Pelizaeus-Merzbacher Disease, PLP1 Null Syndrome, PLP1 Gene Duplication &#X7C; Blood or Tissue &#X7C; Mutations, Pelizaeus Merzbacher Like Disease, 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: Not listed
Enrollment: 12,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2030
U.S. locations: 23
States / cities: Los Angeles, California • Orange, California • Palo Alto, California + 18 more

Conditions: Gaucher Disease
Interventions: Not listed
Lead sponsor: Shire; Industry
Eligibility: Not listed
Enrollment: 1,257 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2028
U.S. locations: 1
States / cities: Lexington, Massachusetts

Conditions: Parkinson Disease, Gaucher Disease, Healthy, GBA Gene Mutation
Interventions: Biological Sample Collection; Other
Lead sponsor: New York Stem Cell Foundation Research Institute; Other
Eligibility: 18 Years and older
Enrollment: 60 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2022 – 2025
U.S. locations: 1
States / cities: New York, New York

Conditions: Gaucher Disease
Interventions: Velaglucerase alfa, Vitamin D; Drug · Dietary Supplement
Lead sponsor: Shire; Industry
Eligibility: 18 Years to 70 Years
Enrollment: 21 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2020
U.S. locations: 8
States / cities: Beverly Hills, California • Los Angeles, California • Atlanta, Georgia + 5 more

Conditions: MPS IVA, Morquio Syndrome
Interventions: Not listed
Lead sponsor: Oregon Health and Science University; Other
Eligibility: 1 Year and older
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2017
U.S. locations: 1
States / cities: Portland, Oregon

Conditions: Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease, Glycogenosis 2
Interventions: alglucosidase alfa, Placebo; Biological · Drug
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 8 Years and older
Enrollment: 90 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2007
U.S. locations: 5
States / cities: Beverly Hills, California • Washington D.C., District of Columbia • St Louis, Missouri + 2 more

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: Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI, Mucopolysaccharidosis Type IV, Mucopolysaccharidosis Type VII
Interventions: Not listed
Lead sponsor: University of Minnesota; Other
Eligibility: 6 Years and older
Enrollment: 100 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2019
U.S. locations: 3
States / cities: Oakland, California • Minneapolis, Minnesota • New York, New York

Conditions: Mucopolysaccharidosis VII, MPS VII, MPS 7, Sly Syndrome
Interventions: No Intervention; Other
Lead sponsor: Ultragenyx Pharmaceutical Inc; Industry
Eligibility: Not listed
Enrollment: 50 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2032
U.S. locations: 7
States / cities: Orange, California • Washington D.C., District of Columbia • Chicago, Illinois + 4 more

Conditions: Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
Interventions: Sudoscan, Skin biopsy, QSART; Device · Procedure
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: 8 Years to 70 Years
Enrollment: 102 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2016 – 2020
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Gaucher Disease
Interventions: eliglustat; Drug
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 18 Years to 55 Years
Enrollment: 8 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2015
U.S. locations: 1
States / cities: Evansville, Indiana

Conditions: Gaucher Disease
Interventions: Enzyme analysis; Other
Lead sponsor: Brigham and Women's Hospital; Other
Eligibility: 18 Years and older
Enrollment: 100 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2012
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability, Autism Spectrum Disorder, Hypotonia, Inborn Errors of Metabolism, Movement Disorders, Genetic Disease, Development Delay, Chromosome Abnormality, Hearing Loss, Dysmorphic Features, Skeletal Dysplasia, Congenital Abnormality, Microcephaly, Macrocephaly
Interventions: Pre-visit prep, usual care + exome seq; Behavioral · Diagnostic Test
Lead sponsor: University of North Carolina, Chapel Hill; Other
Eligibility: 0 Years and older
Enrollment: 548 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2024
U.S. locations: 3
States / cities: Asheville, North Carolina • Chapel Hill, North Carolina • Greenville, North Carolina

Conditions: Gaucher Disease
Interventions: Imiglucerase; Drug
Lead sponsor: University Research Foundation for Lysosomal Storage Diseases, Inc.; Other
Eligibility: 18 Years and older
Enrollment: 173 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2013
U.S. locations: 2
States / cities: Beverly Hills, California • Coral Springs, Florida

Conditions: Fucosidosis
Interventions: Not listed
Lead sponsor: JCR Pharmaceuticals Co., Ltd.; Industry
Eligibility: Not listed
Enrollment: 57 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2031
U.S. locations: 2
States / cities: Orange, California • Minneapolis, Minnesota

Conditions: Metachromatic Leukodystrophy (MLD)
Interventions: SHP611; Drug
Lead sponsor: Shire; Industry
Eligibility: 6 Months to 72 Months
Enrollment: 36 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2026
U.S. locations: 11
States / cities: Torrance, California • Aurora, Colorado • Atlanta, Georgia + 8 more

Conditions: Pompe Disease
Interventions: ATB200, AT2221; Drug
Lead sponsor: Amicus Therapeutics; Industry
Eligibility: 18 Years to 75 Years
Enrollment: 29 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2024
U.S. locations: 12
States / cities: Phoenix, Arizona • Orange, California • Gainesville, Florida + 9 more

Conditions: Lysosomal Acid Lipase Deficiency
Interventions: Sebelipase Alfa; Drug
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: Up to 8 Months
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2018
U.S. locations: 1
States / cities: Phoenix, Arizona

Conditions: Leukodystrophy, Globoid Cell
Interventions: PBKR03; Biological
Lead sponsor: Gemma Biotherapeutics; Industry
Eligibility: 1 Month to 9 Months
Enrollment: 24 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2030
U.S. locations: 4
States / cities: Chicago, Illinois • New York, New York • Philadelphia, Pennsylvania + 1 more

Conditions: Pompe Disease
Interventions: duvoglustat, rhGAA; Drug
Lead sponsor: Amicus Therapeutics; Industry
Eligibility: 18 Years to 65 Years
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2013
U.S. locations: 11
States / cities: Phoenix, Arizona • Scottsdale, Arizona • Orange, California + 8 more

Conditions: Melanoma
Interventions: Nivolumab, Hydroxychloroquine, Ipilimumab; Drug
Lead sponsor: Ravi Amaravadi, MD; Other
Eligibility: 18 Years and older
Enrollment: 41 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2027
U.S. locations: 1
States / cities: Philadelphia, Pennsylvania

Search by objective public record fields.

A Safety and Efficacy Study of LYS-GM101 Gene Therapy in Patients With GM1 Gangliosidosis

Safety and Exercise Study of Two Doses of BMN 110 for Morquio A Syndrome

Antiproteinuric Agents and Fabry Disease

The Myelin Disorders Biorepository Project

Gaucher Disease Outcome Survey (GOS)

Drug Discovery for Parkinson's With Mutations in the GBA Gene

Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease

Gait Analysis in MPS IVA

A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease

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

Longitudinal Studies of Brain Structure and Function in MPS Disorders

Mucopolysaccharidosis VII Disease Monitoring Program

Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

Taste Evaluation of Different Liquid Formulations With Eliglustat

Identification of Undiagnosed Gaucher Disease

North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2

Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1)

A Long-Term Observational Study of Patients With Fucosidosis

A Study of Intrathecal SHP611 in Children With Metachromatic Leukodystrophy

First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221

Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency

Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects With Early Infantile Krabbe Disease

Drug-drug Interaction Study

A Study of Nivolumab and Hydroxychloroquine or Nivolumab/Ipilimumab and Hydroxychloroquine in Advanced Melanoma