Independent directory Public ClinicalTrials.gov records United States
Clinical Trials Finder
Objective public record navigation
Search Results

Search by objective public record fields.

Search by query text, NCT ID, condition, intervention, sponsor, city, state, recruitment status, phase, study type, healthy volunteer eligibility, sex, or age. Results are retrieved from ClinicalTrials.gov and synchronized into the directory. Search pages remain noindex by default.

Clear filters
ClinicalTrials.gov public records Last synced Sep 25, 2026, 10:48 AM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Filters: Condition: Lipoidosis Clear all
Withdrawn No phase listed Observational

Evaluation of Phenotypic Variability in Fabry Disease

NCT03145779
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
1 Year and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Dec 2, 2020 · Synced Sep 25, 2026, 10:48 AM EDT
Completed Phase 3 Interventional Results available

Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease

NCT01124643
View directory record Official record
Conditions
Fabry Disease
Interventions
Replagal
Biological
Lead sponsor
Shire
Industry
Eligibility
18 Years and older
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
2
States / cities
Iowa City, Iowa • Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Jun 7, 2021 · Synced Sep 25, 2026, 10:48 AM EDT
Recruiting No phase listed Observational

Fabry Disease Registry & Pregnancy Sub-registry

NCT00196742
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Not listed
Enrollment
9,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2034
U.S. locations
92
States / cities
Birmingham, Alabama • Phoenix, Arizona • Tucson, Arizona + 72 more
Source: ClinicalTrials.gov public record
Updated Jun 22, 2026 · Synced Sep 25, 2026, 10:48 AM EDT
Recruiting Phase 3 Interventional

A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C

NCT05163288
View directory record Official record
Conditions
Niemann-Pick Disease, Type C
Interventions
N-Acetyl-L-Leucine, Placebo
Drug · Other
Lead sponsor
IntraBio Inc
Industry
Eligibility
4 Years and older
Enrollment
53 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2030
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 2, 2026 · Synced Sep 25, 2026, 10:48 AM EDT
Terminated Phase 2Phase 3 Interventional Results available

Adrabetadex to Treat Niemann-Pick Type C1 (NPC1) Disease

NCT04958642
View directory record Official record
Conditions
Niemann-Pick Disease, Type C
Interventions
Adrabetadex
Drug
Lead sponsor
Mandos LLC
Industry
Eligibility
4 Years to 21 Years
Enrollment
66 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2022
U.S. locations
15
States / cities
Birmingham, Alabama • Orange, California • San Francisco, California + 12 more
Source: ClinicalTrials.gov public record
Updated Aug 28, 2023 · Synced Sep 25, 2026, 10:48 AM EDT
Terminated Phase 3 Interventional

ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases

NCT00654433
View directory record Official record
Conditions
Inherited Metabolic Diseases, Lysosomal Storage Disorders, Peroxisomal Storage Diseases, Inborn Errors of Metabolism, Mucopolysaccharidosis
Interventions
ALD-101
Biological
Lead sponsor
Aldagen
Industry
Eligibility
Up to 16 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2011
U.S. locations
3
States / cities
Los Angeles, California • New York, New York • Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 7, 2014 · Synced Sep 25, 2026, 10:48 AM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease

NCT00787865
View directory record Official record
Conditions
Krabbe Disease
Interventions
Not listed
Lead sponsor
University of Pittsburgh
Other
Eligibility
Up to 17 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2008 – 2027
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 5, 2026 · Synced Sep 25, 2026, 10:48 AM EDT
Not listed Not applicable Interventional

Identification of Undiagnosed Lysosomal Acid Lipase Deficiency

NCT01716728
View directory record Official record
Conditions
Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease
Interventions
enzyme analysis
Other
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
Not listed
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Aug 12, 2013 · Synced Sep 25, 2026, 10:48 AM EDT
Completed Phase 3 Interventional Results available

Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase

NCT00712348
View directory record Official record
Conditions
Gaucher Disease
Interventions
Taliglucerase alfa
Drug
Lead sponsor
Pfizer
Industry
Eligibility
2 Years and older
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2013
U.S. locations
3
States / cities
Coral Springs, Florida • Decatur, Georgia • New York, New York
Source: ClinicalTrials.gov public record
Updated Oct 3, 2018 · Synced Sep 25, 2026, 10:48 AM EDT
Completed No phase listed Observational Results available

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

NCT02699190
View directory record Official record
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 | Blood or Tissue | 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
Source: ClinicalTrials.gov public record
Updated Nov 9, 2025 · Synced Sep 25, 2026, 10:48 AM EDT
Terminated Phase 1 Interventional Results available

A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease

NCT04669535
View directory record Official record
Conditions
Tay-Sachs Disease, Sandhoff Disease
Interventions
AXO-AAV-GM2 Starting Dose, AXO-AAV-GM2 Low Dose, AXO-AAV-GM2 Middle Dose, AXO-AAV-GM2 High Dose
Biological
Lead sponsor
Terence Flotte
Other
Eligibility
6 Months to 12 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
2
States / cities
Boston, Massachusetts • Worcester, Massachusetts
Source: ClinicalTrials.gov public record
Updated Sep 1, 2025 · Synced Sep 25, 2026, 10:48 AM EDT
Completed No phase listed Observational

Longitudinal Study of Cognition With Niemann-Pick Disease, Type C

NCT01899950
View directory record Official record
Conditions
Niemann-Pick Disease, Type C
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
2 Years to 99 Years
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Jan 5, 2016 · Synced Sep 25, 2026, 10:48 AM EDT
Completed Phase 3 Interventional Results available

RESET Trial - Part 1 - A Phase 3 Trial in Subjects With Sjögren-Larsson Syndrome (SLS)

NCT03445650
View directory record Official record
Conditions
Sjogren-Larsson Syndrome
Interventions
ADX-102 1% Topical Dermal Cream (reproxalap), Vehicle of ADX-102 Topical Dermal Cream
Drug
Lead sponsor
Aldeyra Therapeutics, Inc.
Industry
Eligibility
3 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
2
States / cities
New Haven, Connecticut • Omaha, Nebraska
Source: ClinicalTrials.gov public record
Updated Feb 8, 2023 · Synced Sep 25, 2026, 10:48 AM EDT
Active, not recruiting Phase 2 Interventional

MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis

NCT02171104
View directory record Official record
Conditions
Mucopolysaccharidosis Disorders, Hurler Syndrome, Hunter Syndrome, Maroteaux Lamy Syndrome, Sly Syndrome, Alpha-Mannosidosis, Fucosidosis, Aspartylglucosaminuria, Glycoprotein Metabolic Disorders, Sphingolipidoses, Recessive Leukodystrophies, Globoid Cell Leukodystrophy, Metachromatic Leukodystrophy, Niemann-Pick B, Niemann-Pick C Subtype 2, Sphingomyelin Deficiency, Peroxisomal Disorders, Adrenoleukodystrophy With Cerebral Involvement, Zellweger Syndrome, Neonatal Adrenoleukodystrophy, Infantile Refsum Disease, Acyl-CoA Oxidase Deficiency, D-Bifunctional Enzyme Deficiency, Multifunctional Enzyme Deficiency, Alpha-methylacyl-CoA Racmase Deficiency, Mitochondrial Neurogastrointestingal Encephalopathy, Severe Osteopetrosis, Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation), Inherited Metabolic Disorders
Interventions
Stem Cell Transplantation, IMD Preparative Regimen, Osteopetrosis Only Preparative Regimen, Osteopetrosis Haploidentical Only Preparative Regimen, cALD SR-A (Standard-Risk, Regimen A), cALD SR-B (Standard-Risk, Regimen B), cALD HR-D (High-Risk, Regimen C), cALD HR-D (High-Risk, Regimen D)
Biological · Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 55 Years
Enrollment
149 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2029
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jan 6, 2026 · Synced Sep 25, 2026, 10:48 AM EDT
Not listed No phase listed Observational

SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher Disease

NCT02605603
View directory record Official record
Conditions
Gaucher Disease
Interventions
Not listed
Lead sponsor
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Other
Eligibility
18 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2020
U.S. locations
1
States / cities
Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Aug 12, 2019 · Synced Sep 25, 2026, 10:48 AM EDT
Approved For Marketing No phase listed Expanded access

Treatment Protocol of Velaglucerase Alfa for Patients With Type 1 Gaucher Disease

NCT00954460
View directory record Official record
Conditions
Gaucher Disease, Type 1
Interventions
velaglucerase alfa
Drug
Lead sponsor
Shire
Industry
Eligibility
3 Years and older
U.S. locations
32
States / cities
Phoenix, Arizona • Beverly Hills, California • La Jolla, California + 28 more
Source: ClinicalTrials.gov public record
Updated May 20, 2021 · Synced Sep 25, 2026, 10:48 AM EDT
Active, not recruiting No phase listed Observational

Long Term Follow-Up for Safety of AVR-RD-02

NCT06488261
View directory record Official record
Conditions
Gaucher Disease
Interventions
AVR-RD-02
Biological
Lead sponsor
John Bernat
Other
Eligibility
18 Years and older
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2037
U.S. locations
1
States / cities
Iowa City, Iowa
Source: ClinicalTrials.gov public record
Updated Jul 21, 2025 · Synced Sep 25, 2026, 10:48 AM EDT
Completed Phase 4 Interventional Results available

A Study of Enzyme Replacement Therapy (VPRIV) in People With Type 1 Gaucher Disease Who Were Previously Treated With Substrate Reduction Therapy

NCT04718779
View directory record Official record
Conditions
Gaucher Disease
Interventions
Digital Engagement Application (GD App), No Intervention
Other
Lead sponsor
Takeda
Industry
Eligibility
18 Years and older
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Dec 20, 2023 · Synced Sep 25, 2026, 10:48 AM EDT
Completed Phase 4 Interventional Results available

A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease

NCT00081497
View directory record Official record
Conditions
Fabry Disease
Interventions
agalsidase beta
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
16 Years and older
Enrollment
67 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2005
U.S. locations
18
States / cities
Birmingham, Alabama • Los Angeles, California • San Francisco, California + 15 more
Source: ClinicalTrials.gov public record
Updated Apr 1, 2015 · Synced Sep 25, 2026, 10:48 AM EDT
Completed Phase 2 Interventional Results available

A Study of Oral AT2101 (Afegostat Tartrate) in Treatment-naive Patients With Gaucher Disease

NCT00446550
View directory record Official record
Conditions
Gaucher Disease, Type 1 Gaucher Disease, Gaucher Disease, Type 1
Interventions
afegostat tartrate
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years to 74 Years
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
7
States / cities
Beverly Hills, California • Coral Springs, Florida • Decatur, Georgia + 4 more
Source: ClinicalTrials.gov public record
Updated Aug 14, 2018 · Synced Sep 25, 2026, 10:48 AM EDT
Completed No phase listed Observational

Effects of Enzyme Replacement in Gaucher's Disease

NCT00001289
View directory record Official record
Conditions
Gaucher's Disease
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Not listed
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1991 – 2008
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Sep 25, 2026, 10:48 AM EDT
Completed No phase listed Observational

Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2

NCT04470713
View directory record Official record
Conditions
GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Type 2, Tay-Sachs Disease, AB Variant Gangliosidosis GM2, Sandhoff Disease
Interventions
Not listed
Lead sponsor
Idorsia Pharmaceuticals Ltd.
Industry
Eligibility
0 Months and older
Enrollment
226 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
3
States / cities
Chicago, Illinois • Rochester, Minnesota • Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Nov 7, 2021 · Synced Sep 25, 2026, 10:48 AM EDT
Completed Phase 4 Interventional Results available

A Prospective Study to Investigate Safety and Tolerability of Shorter Infusion of Fabrazyme

NCT06019728
View directory record Official record
Conditions
Fabry's Disease
Interventions
AGALSIDASE BETA (GZ419828), Acetaminophen, Diphenhydramine, Dexamethasone, Montelukast, Loratadine, Cetirizine, Fexofenadine
Drug
Lead sponsor
Sanofi
Industry
Eligibility
2 Years to 65 Years
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
5
States / cities
Santa Monica, California • Atlanta, Georgia • Grand Rapids, Michigan + 2 more
Source: ClinicalTrials.gov public record
Updated Oct 20, 2025 · Synced Sep 25, 2026, 10:48 AM EDT
Completed Phase 2 Interventional Results available

A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency

NCT02004704
View directory record Official record
Conditions
Sphingomyelin Lipidosis
Interventions
GZ402665
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Not listed
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2023
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jul 2, 2024 · Synced Sep 25, 2026, 10:48 AM EDT