Ongoing Clinical Trials for Gaucher’s Disease Type III
This article provides information about 4 ongoing clinical trials investigating new treatments for Gaucher’s disease type III. These studies are evaluating medications such as ambroxol, eliglustat, and venglustat, either alone or in combination with enzyme replacement therapy, in patients ranging from children to adults across several European countries.
Clinical trial locations
- France
- Germany
- Italy
- Netherlands
- Spain
Study on the Effectiveness of Ambroxol and Clenbuterol in Children and Adults with Gaucher Disease Type 3
This study is investigating whether ambroxol can help people with Gaucher disease type 3. Ambroxol is traditionally used to help clear mucus from the airways, but researchers believe it may also help reduce the buildup of fatty substances in this rare genetic disorder.
Who can participate:
- Both children and adults of all ages with confirmed Gaucher disease type 3
- Patients must already be receiving enzyme replacement therapy
- Participants need to be able to travel to the study site in the Netherlands
- Written consent from the patient or their parent/guardian is required
Who cannot participate:
- People who do not have type 3 Gaucher disease
- Those unable to provide informed consent
- Vulnerable populations as determined by the research team
What the study involves:
The main goal is to measure changes in a specific substance called Lyso-GL1 in the cerebrospinal fluid, which surrounds the brain and spinal cord. This substance is linked to the disease. Researchers will also look at improvements in quality of life, coordination problems (ataxia), thinking skills, and seizure control if applicable. Participants will continue their regular enzyme replacement therapy while taking ambroxol by mouth. The study will run until September 2027.
Investigational medication: Ambroxol is being tested to see if it can help manage symptoms and reduce fatty substance buildup in the body.
Study of Eliglustat alone or with Imiglucerase in children and adolescents aged 2-17 years with Gaucher disease type 1 and type 3
This trial is studying eliglustat, available in both capsule and powder form, in young patients between 2 and 17 years old. Some participants will receive eliglustat alone, while others will receive it together with imiglucerase infusions.
Who can participate:
- Children and adolescents aged 2 to 17 years with confirmed type 1 or type 3 Gaucher disease
- Must have been receiving enzyme replacement therapy for at least 24 months (Group 1) or 36 months (Group 2)
- Group 1 patients need adequate blood counts, acceptable organ sizes, and no lung or severe bone disease
- Group 2 patients must have lung disease visible on X-ray, recent bone problems, or consistently low platelet counts
- Female patients who have started menstruation must agree to use birth control
Who cannot participate:
- Children under 2 years or individuals 18 years and older
- Those who participated in other trials within 30 days
- People with severe kidney or liver problems
- Pregnant or breastfeeding individuals
- Those unable to swallow tablets
- Anyone taking medications that interact with eliglustat
What the study involves:
The study aims to evaluate how safe eliglustat is and how it moves through the body in young patients. Participants will be assigned to one of two groups based on their condition. Group 1 receives eliglustat alone, while Group 2 receives both eliglustat capsules and Cerezyme infusions every 2 weeks. Throughout the approximately one-year treatment period, doctors will monitor blood cell counts, liver and spleen size, lung function, bone health, and quality of life. The study will track any side effects and measure improvements in various disease markers.
Investigational medications: Eliglustat works by reducing the production of fatty substances that accumulate in cells, while imiglucerase is an enzyme replacement therapy that helps break down these fatty substances.
Study of Venglustat and Imiglucerase for Adult Patients with Gaucher Disease Type 3
This German study is examining venglustat, used both in combination with Cerezyme and as a standalone treatment, in adult patients with type 3 Gaucher disease.
Who can participate:
- Adults aged 18-40 years with type 1 Gaucher disease, or adults 18 years and older with type 3
- Must have oculomotor apraxia, which affects eye movement
- Must have been receiving enzyme replacement therapy for at least 3 years with a stable dose for 6 months
- Need to meet specific health goals regarding blood counts and organ sizes
- Must avoid grapefruit products during the study
- Must agree to use effective birth control methods
Who cannot participate:
- People without type 1 or type 3 Gaucher disease
- Those under 18 years of age
- Pregnant or breastfeeding individuals
- People currently in another clinical trial
- Those with allergies to the study medications
- Anyone unable to follow study procedures
What the study involves:
The study has four phases. First, researchers evaluate specific markers in the cerebrospinal fluid to better understand the disease. Next, they assess the short-term effects of venglustat combined with Cerezyme. This is followed by a longer-term evaluation of the combination treatment. Finally, stable patients transition to venglustat alone. Throughout the study, participants receive venglustat as oral capsules and Cerezyme through intravenous infusion. The study monitors changes in markers related to the central nervous system and ensures the treatment is safe and well-tolerated.
Investigational medications: Venglustat is being studied for its potential to treat the neurological aspects of type 3 Gaucher disease, while Cerezyme provides enzyme replacement therapy.
Study on the Effectiveness and Safety of Venglustat for Adults and Children with Gaucher Disease Type 3
This international study is comparing venglustat to Cerezyme in both adults and children who are already managing their condition with enzyme replacement therapy.
Who can participate:
- Adults 18 years and older, or children aged 12-17 years
- Must have type 3 Gaucher disease with confirmed enzyme deficiency
- Must have been receiving enzyme replacement therapy for at least 3 years with stable dosing
- Need a modified SARA score of 1 or above, indicating coordination issues
- Must have gaze palsy, mainly affecting horizontal eye movements
- Must weigh at least 30 kg
- Sexually active participants must use contraception
Who cannot participate:
- Children younger than 12 years
- Pregnant or breastfeeding individuals
- Those with other serious health conditions
- People currently participating in another trial
- Individuals planning surgery during the study period
- Those with a history of drug or alcohol abuse
- Anyone unable to understand and follow study procedures
What the study involves:
This is a double-blind study, meaning neither participants nor researchers know who receives which treatment. Participants are randomly assigned to receive either venglustat tablets by mouth or Cerezyme by intravenous infusion. The study measures changes in movement using the Scale for the Assessment and Rating of Ataxia and changes in thinking skills using specialized cognitive tests. Regular assessments monitor spleen and liver size, blood levels, and any side effects. Mood is also tracked using depression screening tools. The goal is to determine whether venglustat can safely and effectively improve symptoms like movement difficulties and cognitive function.
Investigational medications: Venglustat works by inhibiting an enzyme involved in lipid production, reducing accumulation in cells, while Cerezyme provides enzyme replacement therapy to break down fatty substances.
Summary
Four clinical trials are currently investigating new treatment approaches for Gaucher’s disease type III across several European countries. The trials are concentrated in Germany, France, Italy, Spain, and the Netherlands, reflecting the importance of international collaboration in researching rare diseases.
A notable pattern is the focus on three main investigational medications: ambroxol, eliglustat, and venglustat. All trials involve patients who are already receiving enzyme replacement therapy, suggesting these new medications are being studied as additions to or replacements for current standard treatment. Venglustat appears in three of the four trials, indicating significant research interest in this medication’s potential for treating the neurological aspects of the disease.
The trials cover a wide age range, from children as young as 2 years to adults, with some studies specifically focusing on pediatric populations. This broad inclusion reflects the need for treatment options across all age groups affected by this rare genetic disorder.
Most studies are evaluating both safety and effectiveness, with particular attention to neurological symptoms such as coordination problems (ataxia), eye movement difficulties, and cognitive function. This emphasis on neurological outcomes distinguishes type 3 Gaucher disease research from studies of other types, as the neurological involvement is a defining characteristic of this form of the disease.
