Clinical Trials for Gaucher Disease

Source: ClinicalTrials.gov — U.S. National Library of Medicine — A database of privately and publicly funded clinical studies conducted around the world (U.S. National Library of Medicine, public domain).

This page lists clinical trials related to Gaucher Disease from the ClinicalTrials.gov database.

Trial Summary

• Total studies: 50
• Recruiting: 25
• Active, not recruiting: 9
• Completed: 10
• Other: 6

Results are refreshed periodically and may not reflect the most current information available from ClinicalTrials.gov.

Recruiting Trials

NCT00358943 — International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry

The ICGG Gaucher Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Gaucher disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registry undergo clinical assessments and receive care as determined by the patient’s treating physician.

The objectives of the…

NCT00029965 — Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders

Study description:

This is a natural history study that will evaluate any patient with enzyme or DNA confirmed GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis. Patients may be evaluated every 6 months for infantile onset disease, yearly for juvenile onset and approximately every two years for adult-onset disease as long as they are clinically stable to travel. Data will be evaluated…

NCT03291223 — Gaucher Disease Outcome Survey (GOS)

The Gaucher Outcomes Survey (GOS) is an ongoing observational, international, multi-center, long-term Registry of Patients with Gaucher Disease irrespective of their treatment status or type of treatment received. No experimental intervention is involved. Patients undergo clinical assessments and receive care as determined by the patients’ treating physician.

The objectives of the registry inc…

NCT03333200 — Longitudinal Study of Neurodegenerative Disorders

The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.

NCT01962415 — Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT

The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant (BMT) or peripheral blood stem cell transplant (PBSCT) in patients with non-malignant disorders that are amenable to treatment with hematopoietic stem cell transplant (HSCT…

NCT02437396 — Oxidative Stress and Inflammatory Biomarkers in Gaucher Disease

The objective of this study is to evaluate oxidative stress and/or inflammation in patients with Gaucher disease type I using a series of biomarkers and correlate with measurements of currently used diagnostic biomarkers.

NCT05253560 — Prodromal Parkinsonian Features in GBA1 Mutation Carriers

Objective of the trial. To define a sub-population which is at increased risk of developing Parkinson, beyond the fact of carrying Gaucher; in this sub-population the investigators shall conduct a comprehensive evaluation that includes a variety of non-invasive tests, whose purpose is to evaluate the state of the pre- Parkinson’s disease signs, signs which can appear, even twenty years before t…

NCT03190837 — A Long-term Follow-up Study of Gaucher Disease

The study aims are to: a) identify the long-term natural history of Gaucher disease, b) evaluate long-term treatment efficacy of enzyme replacement therapy (ERT) and substrate reduction therapy (SRT), and c) identify potential long-term complications of this disorder. These aims will be accomplished through long-term record review of individuals with all three types of Gaucher disease.

NCT03721068 — Study of CAR T-Cells Targeting the GD2 With IL-15+iCaspase9 for Relapsed/Refractory Neuroblastoma or Relapsed/Refractory Osteosarcoma

The body has different ways of fighting infections and disease. No single way seems perfect for fighting cancer. This research study combines two different ways of fighting disease: antibodies and T cells. Antibodies are molecules that fight infections and protect your body from diseases caused by bacteria and toxic substances. Antibodies work by sticking to those bacteria or substances, which …

NCT04101968 — The GBA Multimodal Study in Parkinson’s Disease

This study plans to analyze the molecular and clinical mechanisms of the relationship between the GBA mutations and Parkinson’s disease. This will be assessed through the use of advanced neuroimaging techniques called PET (positron emission tomography) to study the accumulation of the tau protein and the dysfunction of acetylcholine and dopamine in the brain of people with a mutation in the GBA…

NCT04388969 — World Data on Ambroxol for Patients With GD and GBA Related PD

Ambroxol hydrochloride is an oral mucolytic drug available over-the-counter for many years as cough medicine. In 2009 it was found to also act as a pharmacological chaperone (PC) for mutant glucocerebrosidase, albeit in a several-fold higher dose. Unfortunately, due to its low cost, there have been no pharma-driven clinical trials to establish the use of ambroxol. Thus, data are needed on the s…

NCT04528355 — Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC

This is a data collection study that will examine the general diagnostic and treatment data associated with the reduced-intensity chemotherapy-based regimen paired with simple alemtuzumab dosing strata designed to prevented graft failure and to aid in immune reconstitution following hematopoietic stem cell transplantation.

NCT04532047 — PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

For detailed information, please view our study website: https://pearltrial.ucsf.edu/

The investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses with Lysosomal Storage Diseases.

NCT05619900 — Registry of Patients Diagnosed With Lysosomal Storage Diseases

This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.

NCT05536388 — Drug Discovery for Parkinson’s With Mutations in the GBA Gene

The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate Parkinson’s disease research and drug development by using cells from the body (such as skin or blood cells) to make stem cells and other types of cells, conduct research on the samples, perform genetic testing, and/or store the samples for future use.

Through this research, researchers hope …

NCT05487599 — A Clinical Trial of PR001 (LY3884961) in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED)

Study J3Z-MC-OJAE is a Phase 1/2, multicenter, open-label, dose-finding study of LY3884961 evaluating the safety and tolerability in adults with peripheral manifestations of GD.

Up to 3 dose levels of LY3884961 will be assessed in 3 dose-finding cohorts of 3 patients. Following this, up to 6 patients may be enrolled in an expansion cohort.

For each enrolled patient, the study will be approxim…

NCT05586243 — MAGNETIC RESONANCE SPECTROSCOPY BIOMARKERS IN TYPE 3 GAUCHER DISEASE (GD3)

Recent studies have has shown that magnetic resonance spectroscopy (MRS) can provide validated neuronal markers in patients with Type 1 GD (GD1) who are on stable therapy. However, alterations in neurometabolites in adult patients with GD3, who have established neurological involvement, are not well understood. The goal of this study is to characterize neurometabolite profiles in adult patients…

NCT05992532 — GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma

The study of splenomegaly, and the follow-up of splenectomized patients, is one of the causes of referral of these patients to pediatric gastroenterology and oncohematology clinics, and adult internal medicine and hematology. The study and management of splenomegaly is well described among the different medical specialties to which these patients arrive. After the application of the different a…

NCT05843552 — Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease

This is an observational study intended to generate preliminary data to understand how lysosomal dysfunction can affect the biogenesis of extracellular vesicles, its content and function. The primary objective of the proposed project is to decipher how extracellular vesicle (EV) biogenesis and its role in intercellular communication can be impaired as a consequence of defects in lysosomal funct…

NCT06162338 — A Study of the Safety and Preliminary Efficacy of LY-M001 Injection in the Treatment of Adult Patients With Gaucher Disease Type I

This is a prospective single-center, open, single-arm, single-dose intravenous infusion study to evaluate the safety and initial efficacy, pharmacodynamic characteristics, immunogenicity, biodistribution, and viral shedding of LY-M001 injection.This study mainly includes the main study stage and the long-term follow-up study stage.

NCT06573723 — Institutional Registry of Rare Diseases

The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD).

Moreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the populati…

NCT06818838 — A Clinical Study Evaluating LY-M001 Injection in the Treatment of Adult Patients With Type I Gaucher Disease

Gaucher disease (GD) is caused by mutations in the GBA1 gene, which leads to a lack or reduction of GCase activity. The consequences of this deficiency are generally attributed to the accumulation of the GCase substrate, Glucosylceramide (GlcCer), in macrophages in the liver, spleen, kidney, bone, lung, and even the brain, inducing their transformation into Gaucher cells whose cell cytoplasm pr…

NCT06517914 — A First-in-Human, Single- and Multiple-Ascending Dose Study of YH35995 in Healthy Adult Male Participants

This is a randomized, double-blind, first-in-human study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of single and multiple oral doses of YH35995

NCT07223944 — A Gaucher Disease Gene Therapy Trial With FLT201

This study is a Phase 3, non-randomized, multicenter, efficacy and safety study in adult patients with Gaucher disease Type 1, on stable treatment with enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) for at least 2 years. The study aims to confirm the efficacy and safety of FLT201 in this population after discontinuation of ERT/SRT.

NCT04637503 — 4SCAR-T Therapy Targeting GD2, PSMA and CD276 for Treating Neuroblastoma

The purpose of this clinical trial is to assess the feasibility, safety and efficacy of multiple 4SCAR-T cell therapy which targets GD2, PSMA and CD276 surface antigens in patients with relapsed and refractory neuroblastoma (NB). Another goal of the study is to understand the function of the multi-CAR-T cells and their persistency in the patients.

Active, Not Recruiting

NCT02843035 — Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension

Part 1: Biomarker evaluation/screening phase

Primary Objectives:

• Evaluate cerebrospinal fluid (CSF) biomarkers in adult Gaucher disease Type 3 (GD3) participants that distinguish GD3 from adult Gaucher disease Type 1 (GD1) participants
• Screen adult GD3 participants who qualify for treatment with venglustat in Parts 2, Part 3, and Part 4 Parts 2 and 3: Combination treatment phases

Primary…

NCT04127578 — Phase 1/2a Clinical Trial of PR001 (LY3884961) in Patients With Parkinson’s Disease With at Least One GBA1 Mutation (PROPEL)

Study J3Z-MC-OJAA is a Phase 1/2a, multicenter, open-label, ascending dose, first in-human study that will evaluate the safety of intracisternal LY3884961 administration in patients with moderate to severe Parkinson’s disease with at least 1 pathogenic GBA1 mutation. Two dose level cohorts of LY3884961 are planned (Dose Level 1 and Dose Level 2). The duration of the study is 5 years. During the…

NCT04411654 — Phase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE)

J3Z-MC-OJAB is an open-label, Phase 1/2, multicenter study to evaluate the safety and efficacy of single-dose LY3884961 (formerly PR001) in infants diagnosed with Type 2 Gaucher disease (GD2). For each patient, the study will be approximately 5 years in duration. During the first 12 months after dosing, patients will be evaluated for the effects of LY3884961 on safety, tolerability, immunogenic…

NCT05222906 — Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3

This is a parallel arm, Phase 3, double-blind, double-dummy, active-comparator, 2 arm study to evaluate the efficacy and safety of daily oral venglustat versus intravenous Cerezyme infusions every two weeks for improvement or stabilization of the neurological manifestations and maintenance of systemic disease stability in participants aged ≥12 and <18 years and adult patients with Gaucher dise…

NCT05526664 — Omics Gaucher Study: Multiomic Approach

The study aims to investigate the transcriptomic and metabolomic changes in blood, plasma and isolated monocytes from Gaucher patients and healthy controls.

NCT06488261 — Long Term Follow-Up for Safety of AVR-RD-02

The goal of this observational study is to assess the safety and tolerability of AVR-RD-02 treatment in subjects who previously received AVR-RD-02 treatment (single dose administration).

NCT06545136 — Long Term Follow-up Study of Type-1 Gaucher Subjects Post FLT201 Dose (GALILEO-2)

This is a multicenter, long-term, follow-up trial of participants with Gaucher disease type 1 who received FLT201 treatment in a preceding clinical trial. Participants will be followed for 5 years post-treatment.

NCT06528080 — A Clinical Study for the Treatment of Pediatric and Adolescent Patients With Type 1 Gaucher Disease

The purpose of this study was to evaluate the safety, tolerability, efficacy, immunogenicity, PD and PK characteristics of LY-M001 injection in children with GD1 aged 6 years ≤ age < 18 years. This study mainly includes the main study stage and the long-term follow-up study stage.

NCT07494058 — A Study of Home vs Hospital Treatment in People With Fabry, Gaucher or Hunter Conditions in Mexico

During the COVID-19 pandemic, home treatment for conditions such as Fabry, Gaucher or Hunter became important because it is easier for people to stick to their treatment if medicines that need to be given as infusion (called intravenous or IV treatment) can be given at home or somewhere close to home. Additionally, many of the hospitals that provide infusions are centralized in Mexico.

The mai…

Not Yet Recruiting

NCT07603050 — A Phase I/II Clinical Study to Evaluate the Safety and Efficacy of VGN-R08b in Patients With Type III Gaucher’s Disease

A phase I/II clinical study to evaluate the tolerance, safety and efficacy of VGN-R08b intracerebroventricular injection in patients with type III Gaucher’s disease

NCT05669729 — A Survey to Assess Participants’, Caregivers’, and Nurses’ Use and Understanding of Educational Material on Velaglucerase Alfa (VPRIV) Home Infusion

The main purpose of this survey is to determine participants’, caregivers’, and nurses’ understanding and use of educational materials (EM) on VPRIV home treatment. EM includes an infusion diary and guide and an emergency plan related to VPRIV infusion given at home for Gaucher disease. The survey is conducted in European countries.

Data will be collected directly from participants, caregivers…

Enrolling by Invitation

NCT00001215 — Genetic Studies of Lysosomal Storage Disorders

The purpose of this study is to identify genetic, biochemical, and clinical factors that are associated with disease severity in people with Gaucher disease and other lysosomal storage disorders.

There is a vast spectrum of clinical manifestations in people with Gaucher disease as well as other lysosomal storage disorders. This study will evaluate patients with lysosomal disorders on an outpat…

NCT05368038 — ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a panel of additional conditions. The study has three primary objectives: 1) define the analytic and clinical validity of multi-tiered screening assays for a flexible panel o…

Completed Trials

NCT00302146 — Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations

This study will use positron emission tomography (PET) to compare how people with Gaucher disease or Gaucher disease carriers with parkinsonism, and their family members, use dopamine in their brains in comparison with healthy normal volunteers and people who have Parkinson disease. PET assesses organ function by measuring metabolism. In this study, magnetic resonance imaging (MRI) is used in c…

NCT03625882 — Survey Study for Velaglucerase Alfa (VPRIV) in Japan

The objective of this post-marketing survey study is to collect data to determine the safety and efficacy of velaglucerase alfa (VPRIV) in participants with Gaucher disease who are new to therapy or have been switched from another therapeutic agent for Gaucher disease.

NCT02583672 — Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1)

The purpose of this study is to measure levels of blood and brain chemicals related to oxidative stress and inflammation in healthy volunteers and individuals with Type 1 Gaucher disease (GD1) to see if these levels are altered by GD1.

NCT03485677 — Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3

Primary Objective:

Evaluated the safety and pharmacokinetics of eliglustat in pediatric participants (≥2 to <18 years old).

Secondary Objective:

Evaluated the efficacy of eliglustat and quality of life in pediatric participants (≥2 to <18 years old).

NCT04656600 — Study to Evaluate Efficacy and Safety of Imiglucerase Treatment in Chinese Patients With Gaucher Disease Type Ⅲ

Primary Objective

• To evaluate the efficacy on hematologic manifestations of imiglucerase treatment in Chinese patients who are diagnosed as Gaucher disease type Ⅲ
• To evaluate the safety profile of imiglucerase in maximum dose in the label (60U/kg, IV biweekly) in Chinese patients.

Secondary Objective

• To evaluate the efficacy on viscera manifestations of imiglucerase treatment in Chines…

NCT04845958 — A Non-Interventional National Study in Pediatric Patients With Unexplained Enlarged Spleen

Primary Objective:

To assess prevalence of Gaucher disease (GD) diagnosed in pediatric patients presenting with unexplained splenomegaly (SMG) after exclusion of first intention-diagnoses (e.g. portal hypertension, haematological malignancy, hemolytic anemia, infection) based on clinical examination and routine biological tests (full blood count, reticulocytes, liver tests, abdominal ultrasoun…

NCT05324943 — A Gene Therapy Study in Patients With Gaucher Disease Type 1

This study is a first-in-human, open-label, safety, tolerability, and efficacy study in adult patients with Gaucher disease Type 1. The aims are to investigate the safety/tolerability and efficacy of FLT201, and to investigate the relationship of FLT201 dose to augmentation of residual glucocerebrosidase (GCase) expression (activity and concentration), and its potential to improve the clinical …

NCT05687474 — Baby Detect : Genomic Newborn Screening

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life.

Baby Detect Project is an innovative NBS program using a …

NCT05529992 — A Study of Velaglucerase Alfa (VPRIV) in Chinese Children, Teenagers, and Adults With Type 1 Gaucher Disease

The main purpose of this study is to observe the side effects of VPRIV in participants with type 1 Gaucher disease who are either treatment-naïve (newly diagnosed) or who are currently being treated with enzyme replacement therapy (ERT).

Participants will receive VPRIV intravenously during the treatment period (up to 51 weeks), followed by the end-of-treatment (EOT) visit after 2 weeks.

NCT05641103 — PREDIGA 2: Spanish Acronym of “Educational and Diagnostic Project for Gaucher and ASMD”

The study of splenomegaly, and the follow-up of splenectomized patients, is one of the causes of referral of these patients to pediatric gastroenterology and oncohematology clinics, and adult internal medicine and hematology. It has been described that 0.3% of hospital admissions is for this reason.

The study and management of splenomegaly is well described among the different medical specialt…

Available Studies

NCT07675031 — Managed Access Program of Venglustat in Pediatric and Adult Patients With Type 3 Gaucher Disease (GD3).

The objective of this program is to provide early access to venglustat for certain patients with Gaucher disease type 3 in response to unsolicited requests from healthcare providers. No approved therapies for the CNS manifestations of the disease are currently available. The program will provide access to venglustat prior to registration and the availability of commercial product (including rei…

Other (Terminated)

NCT07285369 — High-Dose Ambroxol in Pediatric Type III Gaucher Disease (GD3)

Type: Prospective, open-label, single center study

Duration: 6 months with an optional 12-month extension phase

Participants: 12 pediatric patients diagnosed with type III Gaucher disease (GD3) aged ≥3 to ≤18 years old treatment naïve or on enzyme replacement therapy (ERT). They will be treated with high-dose Ambroxol (mean 35mg/kg bodyweight).

Location: The Children’s Hospital, Lahore, Paki…