Clinical trials
Gaucher Disease clinical trials
Below are recruiting gaucher disease clinical trials, each written for real people, not researchers. We’re tracking 25 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT07758816Recruiting
Better treatments for Gaucher disease with lung or bone problems
This study looks at how standard treatments for Gaucher disease affect lung problems, bone damage, and parkinson-like symptoms. It aims to find better ways to treat these complications and improve quality of life.
New Haven, ConnecticutAges 3 months–75 years - NCT03190837Recruiting
Long-term study for people with Gaucher disease
This study is designed to learn what happens over time in people who have Gaucher disease. It may help researchers understand the long-term effects of the condition and improve future care.
Durham, North CarolinaAges Any age - NCT04532047RecruitingPhase 1
Fetal enzyme therapy trial for certain inherited storage disorders
This Phase 1 trial tests an enzyme replacement treatment given to a developing baby before birth for specific inherited “lysosomal storage” diseases. The goal is to see if the treatment is safe and can improve outcomes for babies diagnosed in pregnancy.
San Francisco, CaliforniaAges 18–50 - NCT02437396Recruiting
Blood tests in stable adults with Gaucher disease
This study measures inflammation and “oxidative stress” (cell stress caused by imbalance in the body) using blood biomarkers in adults with Gaucher disease. It may help researchers understand what’s happening in the body and how treatment status relates to these blood signals.
Minneapolis, MinnesotaAges 18–75 - NCT05843552Recruiting
Blood test using small vesicles in Gaucher disease
This study looks for tiny particles in blood (called extracellular vesicles) that may help identify Gaucher disease and could guide future treatments. It also studies people who have Gaucher gene carrier status but do not have the disease, using careful genetic testing.
Minneapolis, MinnesotaAges 18–80 - NCT06818838RecruitingPhase 1/Phase 2
Gene therapy for Type 1 Gaucher disease
This study tests a new gene therapy called LY-M001 for adults with Type 1 Gaucher disease. It aims to help the body produce the missing enzyme and reduce symptoms like low blood counts or enlarged organs.
Guangzhou, GuangdongAges 18–60 - NCT00358943Recruiting
Gaucher disease registry and pregnancy tracking study
This study creates a large, long-term record of people with Gaucher disease and details about pregnancy outcomes. It helps researchers better understand Gaucher over a person’s life and during pregnancy.
Phoenix, ArizonaAges Any age - NCT03240653Recruiting
Study to sort people with Gaucher disease into groups
This study looks at people with Gaucher disease (types I, II, or III) to better “group” patients for understanding and future research. If you (or your child) have confirmed Gaucher disease, you may be asked to share information and follow a study schedule.
BirminghamAges Any age - NCT05586243Recruiting
MRI lab measurements in adults with type 3 Gaucher disease
This study looks at MRI-based lab measurements (similar to a special type of scan) to find markers that reflect health in people with type 3 Gaucher disease. It may help researchers track the disease over time and improve future treatments.
Minneapolis, MinnesotaAges 18–80 - NCT06162338Recruiting
Study of LY-M001 for Gaucher Disease Type I
This study tests an injection called LY-M001 for adults with Gaucher disease type I. The goal is to see if it can safely help replace the missing enzyme and improve symptoms.
Hanzhou, ZhejiangAges 18–60 - NCT06272149RecruitingEarly Phase 1
Gene Therapy for Infants With Type 2 Gaucher Disease
This trial tests a new gene therapy (VGN-R08b) for infants with Type 2 Gaucher disease, a rare genetic condition that affects the brain and body. The goal is to see if the treatment is safe and can help improve symptoms.
Shanghai, Shanghai MunicipalityAges birth–2 years - NCT06627543Enrolling by invitation
Enzyme replacement therapy for heart health in Gaucher type 3
This study looks at how enzyme replacement therapy affects heart function in children with Gaucher disease type 3. It aims to see if the therapy helps keep the heart healthy.
AsyutAges Any age - NCT03291223Recruiting
Gaucher disease patient survey to improve outcomes
This study looks at how Gaucher disease affects patients’ daily life and health outcomes through a survey. Your answers could help improve future care and treatments by showing what outcomes matter most.
Lexington, MassachusettsAges Any age - NCT05992532Recruiting
Study of rare enzyme disorders in monoclonal gammopathy or myeloma
This study looks for two rare inherited disorders—Gaucher disease and acid sphingomyelinase deficiency (ASMD)—in people who already have a blood condition like monoclonal gammopathy (abnormal protein) or multiple myeloma. If you have an enlarged spleen or low platelets, you may be eligible to help researchers understand if these rare diseases are more common in this group.
Vitoria-Gasteiz, AlavaAges 18–99 - NCT06539169Recruiting
Following people with rare diseases over time
This study follows people with rare diseases over time to learn more about how these conditions progress and how they are treated. Joining may help researchers understand your disease better and find better ways to care for others.
Los Altos, CaliforniaAges Any age - NCT07223944RecruitingPhase 3
Gene therapy trial for Gaucher disease type 1
This trial tests a gene therapy called FLT201 for adults with Gaucher disease type 1. It aims to provide a long-term treatment option for people who have been stable on enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) for at least two years.
Los Angeles, CaliforniaAges 18 years+ - NCT03333200Recruiting
Study of genetic brain diseases over time
This trial follows people with genetic neurodegenerative (brain-wasting) disorders over time to better understand how the condition changes. The goal is to learn patterns that could help future treatments or care plans.
Pittsburgh, PennsylvaniaAges Any age - NCT05619900Recruiting
Register people with lysosomal storage diseases
This study is a registry that collects information from people diagnosed with lysosomal storage diseases. It helps researchers better understand these conditions and support future studies.
San Francisco, CaliforniaAges Up to 64 years - NCT04101968Recruiting
Study of GBA changes in Parkinson’s using multiple tests
This study looks at people with Parkinson’s who carry a specific genetic change in the GBA gene. It uses several tests (including brain scans) to understand the disease better and may help guide future treatments.
Portland, OregonAges 18–80 - NCT05253560Recruiting
Study prodromal Parkinson signs in GBA1 mutation carriers
This study looks at early (before full disease) Parkinson-like symptoms in people who carry a specific genetic change called GBA1. It may help researchers understand who could develop Parkinson’s and how early signs can be tracked.
Jerusalem, Please Select...Ages 40–75 - NCT05536388Recruiting
Study of a new drug for GBA-related Parkinson’s
This study is looking for ways to find new drugs that may help people with Parkinson’s caused by changes in the GBA gene. It may also include people with Gaucher disease and healthy volunteers, using blood and possibly skin samples.
New York, New YorkAges 18 years+ - NCT05368038Enrolling by invitation
Newborn screening program for babies up to 4 weeks old
This trial tests a flexible newborn screening process that looks for certain conditions early in life. It may help by catching problems sooner, when treatment can be started earlier.
Brooklyn, New YorkAges Up to 4 weeks - NCT00001215Enrolling by invitation
Understanding Genetic Lysosomal Storage Disorders
This study aims to understand genetic factors in lysosomal storage disorders—rare conditions where the body cannot break down certain substances. Researchers will collect information from patients with these disorders, their family members, and healthy volunteers to learn how these diseases develop and affect people over time.
Bethesda, MarylandAges 1 week–110 years - NCT04388969Recruiting
Ambroxol study for Gaucher disease and Parkinson symptoms
This trial looks at ambroxol, a medicine, for people who have Gaucher disease and Parkinson disease that is linked to Gaucher. If you fit the condition group, the study may help doctors learn whether ambroxol can improve Parkinson-related symptoms in this specific situation.
Jerusalem, Please Select...Ages Up to 100 years
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Gaucher Disease trials by city
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Gaucher Disease trials by state
Studies with a site anywhere in these states.
Common questions
- Are there clinical trials for gaucher disease?
- Yes. Clin2 currently lists 25 recruiting gaucher disease studies from the U.S. registry, each rewritten for real people, not researchers, so you can see what it’s testing and who it’s for.
- How do I know if I qualify for a gaucher disease trial?
- Each study lists its eligibility criteria — rules about age, diagnosis, and prior treatments. On every Clin2 trial page we explain these in words written for real people and offer a short, optional pre-screen for a fit read. The study team makes the final decision.
- Does it cost anything to join a gaucher disease trial?
- Using Clin2 is always free. Many trials cover the cost of the study treatment and related visits; some reimburse travel. The study team explains exactly what’s covered before you decide.
Related conditions
Clin2 helps you find and understand clinical trials and does not provide medical advice. Study data comes from ClinicalTrials.gov. Talk with your doctor about whether a specific trial is right for you.