Ongoing Clinical Trials for Gaucher’s Disease Type I
There are currently 4 clinical trials investigating new treatments for Gaucher’s disease type I across Europe. These studies are testing innovative therapies including gene therapy, enzyme replacement combinations, and substrate reduction approaches. Trials are taking place in Germany, Spain, France, and Italy, offering opportunities for patients to access experimental treatments aimed at managing symptoms and improving quality of life.
Clinical trial locations
- France
- Germany
- Italy
- Spain
Study on the Safety of LY3884961 for Patients with Type 1 Gaucher Disease
This trial is testing a new treatment called LY3884961, delivered as a single dose through intravenous infusion. The study is taking place in Germany and Spain and focuses on patients who have been on stable enzyme replacement therapy or substrate reduction therapy.
Who can join: Adults between 18 and 65 years old who have confirmed GBA1 gene mutations and have been receiving enzyme replacement therapy or substrate reduction therapy for at least 2 years on a stable dose for at least 3 months. Participants must be willing to use effective contraception and avoid blood donation during the study period.
Who cannot join: People with other serious health conditions that might interfere with the study, those who are pregnant or breastfeeding, recent participants in other clinical trials, people with a history of allergic reactions to similar treatments, those unable to follow study procedures, individuals with a history of drug or alcohol abuse, and anyone taking medications that might affect study results.
What the study aims to discover: The main goal is to evaluate how safe and tolerable LY3884961 is for patients. Researchers will monitor vital signs, conduct blood tests and imaging scans including MRIs of the abdomen and bones, and track changes in specific proteins and antibodies. The study will also measure how the treatment affects spleen size, platelet count, and enzyme activity. Long-term follow-up will help determine when patients might be able to discontinue their regular enzyme therapy.
Study of Eliglustat alone or with Imiglucerase in children and adolescents aged 2-17 years with Gaucher disease type 1 and type 3
This study is evaluating eliglustat, available as capsules and oral powder, for young patients aged 2 to 17 years. The trial is being conducted in Spain, France, and Italy, with some participants receiving eliglustat alone while others receive it combined with imiglucerase infusions.
Who can join: Children and adolescents between 2 and 18 years old with confirmed diagnosis through enzyme and genetic testing. Patients must have been on enzyme replacement therapy for at least 24 months. Those receiving eliglustat alone need to meet specific health targets including adequate blood counts and organ sizes without lung or severe bone disease. Those receiving combination therapy must have been on enzyme therapy for at least 36 months and have either lung disease, bone problems, or consistently low platelet counts. Female patients who have started menstruation must use approved birth control methods.
Who cannot join: Children under 2 years or adults 18 and older, recent participants in other trials, those with severe allergic reactions to similar medications, patients with other types of Gaucher disease, those with severe kidney or liver problems, pregnant or breastfeeding individuals, patients taking medications that interact with eliglustat, those unable to swallow tablets, and anyone with conditions that could interfere with study procedures.
What the study aims to discover: The research will evaluate how safe eliglustat is and how it moves through the body in young patients. Doctors will monitor blood cell counts, liver and spleen size, lung function, and bone health over approximately one year. The study will also track side effects and assess how the treatment affects patients’ quality of life using questionnaires.
Investigational drugs: Eliglustat works by reducing the production of fatty substances that accumulate in cells, helping manage symptoms. Imiglucerase is an enzyme replacement therapy that breaks down these fatty substances by replacing the missing or non-working enzyme.
Study of Venglustat and Imiglucerase for Adult Patients with Gaucher Disease Type 3
This German trial is studying venglustat capsules combined with Cerezyme intravenous infusions, and later venglustat alone. The study focuses on adult patients with type 3 Gaucher disease and involves evaluating markers in cerebrospinal fluid.
Who can join: Adults aged 18-40 years for type 1 or at least 18 years for type 3 Gaucher disease who have oculomotor apraxia, which affects eye movement. Participants must have confirmed enzyme deficiency and have been receiving enzyme replacement therapy like Cerezyme for at least 3 years with a stable dose for at least 6 months. They must meet specific health goals regarding hemoglobin levels, platelet counts, and organ sizes. Female participants of childbearing potential must have negative pregnancy tests, and all participants must agree to use two effective birth control methods. Patients must avoid grapefruit products throughout treatment.
Who cannot join: Patients without confirmed type 1 or type 3 Gaucher disease, children and adolescents, those unable to safely participate due to other health conditions, pregnant or breastfeeding individuals, current participants in other trials, those with allergies to study medications, and anyone with conditions making participation unsafe.
What the study aims to discover: The trial is divided into four parts, starting with evaluating cerebrospinal fluid markers to distinguish between disease types, then assessing short-term and long-term effects of combination treatment, and finally exploring effects of venglustat alone in stable patients. The study monitors changes in central nervous system markers and ensures treatment safety and tolerability.
Investigational drugs: Venglustat is being studied for its potential to treat type 3 Gaucher disease, used both in combination with Cerezyme and alone. Cerezyme replaces the missing enzyme in the body and is combined with venglustat to assess improved treatment outcomes.
Study on the Long-term Safety of FLT201 for Patients with Gaucher Disease Type 1
This Spanish trial focuses on long-term follow-up for patients who have previously received FLT201, a gene therapy using an adeno-associated viral vector. The treatment delivers a modified gene to help produce the enzyme beta-glucocerebrosidase.
Who can join: Participants must have type 1 Gaucher disease and have previously received FLT201 treatment, including those who may have needed to restart enzyme replacement therapy or substrate reduction therapy. Both male and female participants are eligible. They must be able to give full informed consent and follow all trial requirements.
Who cannot join: The study specifically requires prior FLT201 treatment, so those who have not received this therapy cannot participate.
What the study aims to discover: The research assesses the long-term safety of FLT201 through extended monitoring until March 2029. Participants will undergo regular health assessments including vital signs checks, heart monitoring through ECG, physical examinations, and laboratory tests. The study will measure changes in enzyme activity in blood samples, track specific biomarkers including lyso-Gb1 concentration, hemoglobin levels, platelet count, and organ volumes using MRI scans. Researchers will also monitor antibody levels and determine how long it takes for the treatment’s genetic material to clear from the blood and semen.
Investigational drug: FLT201 is an experimental gene therapy that uses an adeno-associated viral vector to deliver genetic material, aiming to provide a long-term solution by addressing the underlying cause of the disease and potentially improving symptoms and quality of life.
Summary
The four ongoing clinical trials for Gaucher’s disease type I represent diverse approaches to treatment. Spain hosts the most trials with three studies, followed by Germany with two, while France and Italy each have one. The trials span different age groups, from children as young as 2 years to adults up to 65 years.
A notable pattern is the focus on combination therapies, with two trials examining treatments alongside existing enzyme replacement therapy. The studies also show progression in treatment approaches, from traditional enzyme replacement and substrate reduction to innovative gene therapy. Three of the four trials specifically focus on patients already stable on existing treatments, suggesting research is moving toward optimizing and potentially replacing current standard therapies.
The investigational drugs being tested include LY3884961, eliglustat, imiglucerase, venglustat, and the gene therapy FLT201. Several trials extend over multiple years, with the FLT201 long-term safety study continuing until 2029, reflecting the commitment to understanding long-term effects and safety of these treatments.
