There are currently 10 active clinical trials seeking participants for Gaucher Disease research studies. The states with the highest number of trials for Gaucher Disease participants are New York, California, Florida and Virginia.
International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry
NCT00358943
Recruiting
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 Registry are: * To enhance understanding of the variability, progression, identification, and natural... Read More
Gender:
ALL
Ages:
All
Trial Updated:
08/12/2025
Locations: Phoenix Children's Hospital- Site Number : 840003, Phoenix, Arizona +314 locations
Conditions: Gaucher Disease, Cerebroside Lipidosis Syndrome, Glucocerebrosidase Deficiency Disease, Glucosylceramide Beta-Glucosidase Deficiency Disease
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Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease
NCT05843552
Recruiting
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 function. Collectively these defects in EV biogenesis and function can contribute to the neuroinflammation o... Read More
Gender:
ALL
Ages:
Between 18 years and 80 years
Trial Updated:
07/31/2025
Locations: University of Minnesota, Minneapolis, Minnesota
Conditions: Gaucher Disease
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A Clinical Trial of PR001 (LY3884961) in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED)
NCT05487599
Recruiting
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 approximately 5 years in duration, including up to a 60-day screening period. During the first 18 months after... Read More
Gender:
ALL
Ages:
18 years and above
Trial Updated:
07/09/2025
Locations: Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, Illinois +6 locations
Conditions: Gaucher Disease, Gaucher Disease, Type 1
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The GBA Multimodal Study in Parkinson's Disease
NCT04101968
Recruiting
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 gene, with and without Parkinson's disease. The ingestigators will also use a technology-based assessm... Read More
Gender:
ALL
Ages:
Between 18 years and 80 years
Trial Updated:
05/27/2025
Locations: Oregon Health & Science University, Portland, Oregon +2 locations
Conditions: Parkinson Disease, GBA Gene Mutation, Gaucher Disease
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Longitudinal Study of Neurodegenerative Disorders
NCT03333200
Recruiting
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.
Gender:
ALL
Ages:
All
Trial Updated:
03/04/2025
Locations: UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania
Conditions: MLD, Krabbe Disease, ALD, MPS I, MPS II, MPS III, Vanishing White Matter Disease, GM3 Gangliosidosis, PKAN, Tay-Sachs Disease, NP Deficiency, Osteopetrosis, Alpha-Mannosidosis, Sandhoff Disease, Niemann-Pick Diseases, MPS IV, Gaucher Disease, GAN, GM1 Gangliosidoses, Morquio Disease, S-Adenosylhomocysteine Hydrolase Deficiency, Batten Disease, Pelizaeus-Merzbacher Disease, Leukodystrophy, Lysosomal Storage Diseases, Purine Nucleoside Phosphorylase Deficiency, Multiple Sulfatase Deficiency Disease
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Drug Discovery for Parkinson's with Mutations in the GBA Gene
NCT05536388
Recruiting
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 to identify future treatments or even cures for Parkinson's disease.
Gender:
ALL
Ages:
18 years and above
Trial Updated:
02/27/2025
Locations: The New York Stem Cell Foundation Research Institute, New York, New York
Conditions: Parkinson Disease, Gaucher Disease, Healthy, GBA Gene Mutation
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Gaucher Disease Outcome Survey (GOS)
NCT03291223
Recruiting
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 include to evaluate the safety and long-term effectiveness of velaglucerase alfa, to characterize patients... Read More
Gender:
ALL
Ages:
All
Trial Updated:
01/08/2025
Locations: Central Contact, Lexington, Massachusetts
Conditions: Gaucher Disease
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FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
NCT06539169
Recruiting
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases. Patients participate in the study by electronic consent (eConsent) and sign a medical records release to permit data collection. Medical records are accessed from institutions directly via eFax or paper fax, online from patient electronic medical record (EMR) portals, direct from DNA/RNA sequencing and molecular profiling vendors, and via elect... Read More
Gender:
ALL
Ages:
All
Trial Updated:
11/12/2024
Locations: xCures, Los Altos, California
Conditions: Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis, Creutzfeld-Jakob Disease, Cystic Fibrosis, Duchenne Muscular Dystrophy, Early-Onset Alzheimer Disease, Ehlers-Danlos Syndrome, Huntington Disease, Gaucher Disease, GM1 Gangliosidosis, Myasthenia Gravis, Pompe Disease, Sickle Cell Disease, Transthyretin Amyloid Cardiomyopathy, Rare Diseases
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A Long-term Follow-up Study of Gaucher Disease
NCT03190837
Recruiting
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.
Gender:
ALL
Ages:
All
Trial Updated:
09/13/2024
Locations: Duke University Medical Center, Durham, North Carolina
Conditions: Gaucher Disease
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Biomarkers Related to Bone in Pediatric Gaucher Disease
NCT06116071
Recruiting
Aims of the observational study is to establish novel blood-based biomarkers for grading bone disease in pediatric patients with Gaucher disease (GD). Patients with clinically confirmed GD: deficient GCase enzyme activity and corresponding genetic analysis will be eligible for enrollment. Levels of Lyso-Gb1, chitotriosidase, and CCL18 will be established for future bone biomarkers correlation analysis. Skeletal involvement will be assessed using standard clinical diagnostic tools, such as skelet... Read More
Gender:
ALL
Ages:
Between 5 years and 21 years
Trial Updated:
03/12/2024
Locations: Lysosomal and Rare disorder research and treatment center, Fairfax, Virginia
Conditions: Gaucher Disease, Bone Diseases
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