Search | Clinical Trials Finder

Conditions: Type 1 Gaucher Disease
Interventions: Safety and efficacy assessments; Other
Lead sponsor: AVROBIO; Industry
Eligibility: 18 Years to 99 Years
Enrollment: 4 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2023
U.S. locations: 2
States / cities: Iowa City, Iowa • Hackensack, New Jersey

Conditions: Hypercholesterolemia, Familial, Hyperlipidemia
Interventions: torcetrapib/atorvastatin, atorvastatin; Drug
Lead sponsor: Pfizer; Industry
Eligibility: 18 Years to 70 Years
Enrollment: 800 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2003 – 2006
U.S. locations: 7
States / cities: Hartford, Connecticut • Boston, Massachusetts • Minneapolis, Minnesota + 4 more

Conditions: Hurler Syndrome, Inherited Metabolic Disorder, Lysosomal Storage Disorder, Metachromatic Leukodystrophy, Inborn Errors of Metabolism
Interventions: rivogenlecleucel, rimiducid; Biological · Drug
Lead sponsor: Bellicum Pharmaceuticals; Industry
Eligibility: 3 Months to 21 Years
U.S. locations: 2
States / cities: Los Angeles, California • Palo Alto, California

Conditions: Gaucher Disease, Type 1
Interventions: VPRIV®; Biological
Lead sponsor: Shire; Industry
Eligibility: 2 Years and older
Enrollment: 95 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2012
U.S. locations: 10
States / cities: Los Angeles, California • Oakland, California • Atlanta, Georgia + 7 more

Conditions: Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis
Interventions: AAVrh.10CUhCLN2 vector 9.0x10^11 genome copies, AAVrh.10CUhCLN2 vector 2.85x10^11 genome copies; Biological
Lead sponsor: Weill Medical College of Cornell University; Other
Eligibility: 2 Years to 18 Years
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2020
U.S. locations: 1
States / cities: New York, New York

Conditions: Shwachman-Diamond Syndrome, SDS, IBMF, Congenital Neutropenia, Heme Malignancy, Shwachman Syndrome, Inherited Bone Marrow Failure, Exocrine Pancreatic Insufficiency, WHIM, ELANE, SBDS Gene Mutation, EFL1 Gene Mutation, DNAJC21 Gene Mutation, SRP54 Gene Mutation, Inherited Cancer Syndrome, Inherited Cancer-Predisposing Syndrome, Neutropenia, Severe Chronic, Neutropenia Other, Neutropenia Chronic Benign, Ribosome Alteration, Ribosomopathy, Immune Deficiency, Inherited BMF Syndrome, Inherited Immunodeficiency Diseases, Cognitive Delay, Mild, Myelodysplastic Syndromes, Pancytopenia
Interventions: Not listed
Lead sponsor: Shwachman-Diamond Syndrome Alliance Inc; Other
Eligibility: Not listed
Enrollment: 8,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2088
U.S. locations: 1
States / cities: Woburn, Massachusetts

Conditions: Fabry Disease
Interventions: A (migalastat), B (migalastat), C (migalastat), D (migalastat), E (migalastat); Drug
Lead sponsor: Amicus Therapeutics; Industry
Eligibility: 18 Years to 65 Years
Enrollment: 20 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2011
U.S. locations: 1
States / cities: Austin, Texas

Conditions: Lysosomal Acid Lipase Deficiency
Interventions: There is no intervention in the study; Other
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: 2 Years to 16 Years
Enrollment: 22 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2017
U.S. locations: 2
States / cities: Atlanta, Georgia • Houston, Texas

Conditions: Type 2 Gaucher Disease
Interventions: Not listed
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: Up to 5 Years · Male only
Enrollment: 1 participant
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2006
U.S. locations: 1
States / cities: Bethesda, 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: Batten Disease
Interventions: Miglustat 100 milligrams (mg) Oral Capsule; Drug
Lead sponsor: Beyond Batten Disease Foundation; Other
Eligibility: 17 Years and older
Enrollment: 6 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2024
U.S. locations: 1
States / cities: Houston, Texas

Conditions: Hypercholesterolemia, Hyperlipidemia, Familial Combined
Interventions: colesevelam HCl tablets and fenofibrate tablets, fenofibrate tablets and Welchol placebo tablets; Drug
Lead sponsor: Daiichi Sankyo; Industry
Eligibility: 30 Years to 70 Years
Enrollment: 129 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2003 – 2004
U.S. locations: 10
States / cities: Longwood, Florida • Ocala, Florida • Winterpark, Florida + 7 more

Conditions: Fabry Disease
Interventions: Fabrazyme (agalsidase beta), Placebo; Biological
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 16 Years and older
Enrollment: 82 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2001 – 2004
U.S. locations: 19
States / cities: Birmingham, Alabama • Los Angeles, California • San Francisco, California + 16 more

Conditions: ESRD, Fabry Disease, Rare Diseases, Kidney Diseases, End Stage Renal Disease, Genetic Diseases, X-Linked
Interventions: Not listed
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: 18 Years to 65 Years
Enrollment: 338 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2019
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Hypoleptinemia, Generalized Lipodystrophy, Partial Lipodystrophy, Insulin Resistance
Interventions: Leptin, Placebo; Drug
Lead sponsor: University of Texas Southwestern Medical Center; Other
Eligibility: 6 Years to 70 Years
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2006 – 2014
U.S. locations: 1
States / cities: Dallas, Texas

Conditions: Bone Marrow Failure Syndrome, Severe Aplastic Anemia, Severe Congenital Neutropenia, Amegakaryocytic Thrombocytopenia, Diamond-Blackfan Anemia, Schwachman Diamond Syndrome, Primary Immunodeficiency Syndromes, Acquired Immunodeficiency Syndromes, Histiocytic Syndrome, Familial Hemophagocytic Lymphocytosis, Lymphohistiocytosis, Macrophage Activation Syndrome, Langerhans Cell Histiocytosis (LCH), Hemoglobinopathies, Sickle Cell Disease, Sickle Cell-beta-thalassemia
Interventions: CD34 Stem Cell Selection Therapy; Biological
Lead sponsor: Diane George; Other
Eligibility: Up to 40 Years
Enrollment: 37 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2030
U.S. locations: 1
States / cities: New York, New York

Conditions: Hypercholesterolemia, Hypercholesterolemia, Familial, Hypercholesteremia in Children, Hyperlipidemia in Children
Interventions: Best Practice Alert, Health Maintenance Topic; Behavioral
Lead sponsor: Geisinger Clinic; Other
Eligibility: 9 Years to 11 Years
Enrollment: 13,340 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2020
U.S. locations: 1
States / cities: Danville, Pennsylvania

Conditions: CTX
Interventions: Blinded CDCA 250 mg TID, Placebo, Open-Label CDCA 250 mg TID, Rescue Medication CDCA 250 mg TID, CDCA Weight-Based Dose TID; Drug
Lead sponsor: Mirum Pharmaceuticals, Inc.; Industry
Eligibility: 1 Month and older
Enrollment: 19 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2023
U.S. locations: 9
States / cities: Aurora, Colorado • Orlando, Florida • Iowa City, Iowa + 5 more

Conditions: Krabbe Disease
Interventions: FBX-101; Biological
Lead sponsor: Forge Biologics, Inc; Industry
Eligibility: Up to 18 Years
Enrollment: 9 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2026
U.S. locations: 3
States / cities: Orange, California • Ann Arbor, Michigan • Durham, North Carolina

Conditions: Shwachman-Diamond Syndrome, Shwachman-Diamond Syndrome-Like
Interventions: Not listed
Lead sponsor: Boston Children's Hospital; Other
Eligibility: Not listed
Enrollment: 5,000 participants
Timeline: 2016 – 2090
U.S. locations: 4
States / cities: Aurora, Colorado • Boston, Massachusetts • Cincinnati, Ohio

Conditions: Niemann-Pick Type C Disease
Interventions: Nizubaglustat, Placebo; Drug
Lead sponsor: Azafaros B.V.; Industry
Eligibility: 4 Years and older
Enrollment: 72 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2028
U.S. locations: 5
States / cities: Oakland, California • Minneapolis, Minnesota • Rochester, Minnesota + 2 more

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: Smith-Lemli-Opitz Syndrome
Interventions: Cholic Acid; Drug
Lead sponsor: University of Nebraska; Other
Eligibility: 2 Years to 25 Years
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2023
U.S. locations: 2
States / cities: Aurora, Colorado • Omaha, Nebraska

Conditions: Familial Hypercholesterolemia
Interventions: Evolocumab; Biological
Lead sponsor: Amgen; Industry
Eligibility: 10 Years to 17 Years
Enrollment: 163 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2021
U.S. locations: 3
States / cities: The Bronx, New York • Cincinnati, Ohio • Nashville, Tennessee

Search by objective public record fields.

A Long-Term Follow-up Study of Subjects With Gaucher Disease Who Previously Received AVR-RD-02

Carotid B-Mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrpib/Atorvastatin to Atorvastatin Alone.

BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 Study

An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease

Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL)

Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform

Migalastat Food Effect Study

Screening for Lysosomal Acid Lipase Deficiency

Convection-Enhanced Delivery of Glucocerebrosidase to Treat Type 2 Gaucher Disease

Genetic Studies of Lysosomal Storage Disorders

An Open-label Safety, Pharmacokinetic, and Efficacy Study of Miglustat for the Treatment of Subjects With Batten Ceroid Lipofuscinosis, Neuronal 3 (CLN3) Disease

Study to Compare Welchol and TriCor to TriCor Alone in Patients With High Cholesterol

A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease

Kidney Information Network for Disease Research and Education

Trial of Leptin Replacement Therapy in Patients With Lipodystrophy

CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation

Evaluating the Efficacy of Pediatric Lipid Screening Alerts

Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)

Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCT

Shwachman Diamond Syndrome Registry and Study

A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease (NPC)

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

Smith-Lemli-Opitz Syndrome and Cholic Acid

Safety, Tolerability and Efficacy of Evolocumab (AMG 145) in Children With Inherited Elevated Low-density Lipoprotein Cholesterol (Familial Hypercholesterolemia)