Amsterdam UMC
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Amsterdam, The Netherlands
RecruitingRare disease
Study on the Effectiveness of Ambroxol and Clenbuterol in Children and Adults with Gaucher Disease Type 3
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What is this trial about?
A plain-language summary of the goals, design and what participants do
This clinical trial is focused on studying the effectiveness of a medication called ambroxol in treating individuals with Gaucher disease type 3. Gaucher disease is a rare genetic disorder where fatty substances accumulate in certain organs and tissues, leading to various health issues. The study aims to understand how ambroxol affects certain substances in the body, particularly in the cerebrospinal fluid, which is the liquid surrounding the brain and spinal cord.
Participants in the study will receive ambroxol, which is known to help with respiratory conditions, but in this trial, it is being tested for its potential benefits in Gaucher disease type 3. The study will also involve a comparison with a placebo to evaluate the true effects of ambroxol. The trial will monitor changes in specific markers in the body, such as Lyso-GL1, which are related to the disease, as well as assess improvements in quality of life and other health outcomes.
The study will take place over a period of time, allowing researchers to gather data on how ambroxol impacts the disease and its symptoms. Participants will be regularly assessed to track any changes in their condition and overall well-being. This research is important for potentially finding new ways to manage Gaucher disease type 3 and improve the lives of those affected by it.
The research process
The trial runs in 4 steps – from screening to follow-up. Each step says what happens and what the team monitors.
Who can join the trial?
5 criteria
- The patient or the parent(s) / legal guardian(s) must provide written informed consent before the start of the study. This means they agree to participate after understanding the study details.
- Both male and female patients with a documented deficiency of **GCase activity** and **GBA genotype** fitting **GD3**. This means they have specific genetic markers related to Gaucher disease type 3.
- Male and female patients of all ages can participate.
- The patient must be able to travel to the study site.
- Patients must be receiving **ERT** (Enzyme Replacement Therapy) with treatment ongoing at the time of enrollment. This means they are already undergoing a specific treatment for their condition.
Who cannot join the trial?
4 criteria
- Patients who do not have **Gaucher disease type 3**. This is a specific type of a genetic disorder.
- Patients who are not within the specified age range for the study.
- Patients who are not part of the specified clinical trial group.
- Patients who are not able to provide informed consent or are considered part of a vulnerable population.
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Investigated drugs
Ambroxol is a medication being studied for its potential effectiveness in treating Gaucher disease type 3. In this clinical trial, researchers are investigating how ambroxol affects a specific substance in the cerebrospinal fluid of patients with this condition. Gaucher disease type 3 is a rare genetic disorder, and the trial aims to see if ambroxol can help manage or improve symptoms related to this disease.
What is already known about the treatment
Ambroxol – Ambroxol is administered orally, typically in tablet or syrup form. It is currently being studied for its effectiveness in treating Gaucher disease type 3, a rare genetic disorder. The main therapeutic indication for ambroxol in this context is to reduce levels of a specific lipid in the cerebrospinal fluid of patients with this condition. At the molecular level, ambroxol is believed to enhance the activity of certain enzymes that help break down lipids. It is classified pharmacologically as a mucolytic agent, traditionally used to clear mucus from the respiratory tract, but its potential benefits in Gaucher disease are under investigation.
Investigated diseases
Gaucher Disease Type 3 – This is a rare genetic disorder that affects the body's ability to break down a certain type of fat, leading to its accumulation in various organs. It is characterized by neurological symptoms, including eye movement disorders, seizures, and cognitive decline, alongside the more common symptoms of Gaucher disease such as enlarged liver and spleen, bone pain, and fatigue. The progression of neurological symptoms can vary, with some individuals experiencing a slow progression while others may have more rapid changes. The disease is caused by a deficiency in the enzyme glucocerebrosidase, which leads to the buildup of glucocerebroside in cells. This accumulation primarily affects the brain and other parts of the nervous system, as well as the spleen, liver, and bone marrow. The severity and range of symptoms can differ significantly among individuals with this condition.
Trial detailsLast updated 7 Oct 2026
Age18+ yearsPhasePhase IIITrial ID2024-514012-28-00Protocol codeNL76160.018.21Estimated enrolment4 patientsSponsorAmsterdam UMC Stichting
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