Ongoing Clinical Trials for Lysosomal Storage Disorder
There is currently 1 ongoing clinical trial investigating new treatment options for lysosomal storage disorder. This trial is testing an oral medication called nizubaglustat in patients with specific forms of the condition, including Niemann-Pick type C disease and GM1 or GM2 gangliosidosis. The study is being conducted across multiple European countries and aims to evaluate whether this medication can help improve movement difficulties and other symptoms associated with these rare genetic conditions.
Clinical trial locations
- France
- Germany
- Italy
- Portugal
- Spain
- Sweden
Study on the Effectiveness and Safety of Nizubaglustat in Patients with Niemann-Pick Type C, GM1, or GM2 Gangliosidosis
This clinical trial is investigating a medication called nizubaglustat (also known by its code name AZ-3102) for treating specific rare genetic disorders. These conditions include Niemann-Pick type C disease, GM1 gangliosidosis, and GM2 gangliosidosis. These are serious conditions where the body struggles to break down certain substances, leading to a buildup that causes various health problems, particularly affecting movement, balance, and coordination.
Main focus and goal: The study aims to evaluate how well nizubaglustat works and how safe it is for people with these conditions. The primary focus is on improving symptoms related to movement difficulties, known as ataxia, which are commonly experienced by patients with these disorders. Participants will take the medication for 18 months, and researchers will monitor whether it helps reduce symptoms and improve daily functioning. The study will also track any side effects and assess overall quality of life.
Investigational drug: Nizubaglustat is an oral medication taken in capsule form. It works by inhibiting specific enzymes involved in lipid metabolism, which may help reduce the harmful accumulation of substances in the body’s cells and tissues.
Who can participate (inclusion criteria):
- Participants must have a confirmed diagnosis of Niemann-Pick type C disease or GM1/GM2 gangliosidosis, verified through genetic testing and specific lab results
- Neurological symptoms must have started appearing between the ages of 2 and 15 years
- Participants should be either newly diagnosed or not currently taking approved treatments for these conditions
- Movement problems must be at a certain level, measured by a test called the SARA score, which should fall between 3 and 30
- Participants must be able to swallow capsules and complete the required assessments throughout the study
- Written consent must be provided by the participant or their parent/legal guardian if under 18 years old
- Females of childbearing potential must use highly effective birth control methods before, during, and shortly after the study
- Males must agree to use condoms with spermicide during the study and for 90 days after the last dose, and agree not to donate sperm during this period
Who cannot participate (exclusion criteria):
- Participants who do not have a confirmed diagnosis of Niemann-Pick type C disease or GM1/GM2 gangliosidosis
- Those who are not in the late-infantile or juvenile stages of the disease (the study targets those who developed symptoms at a young age)
- Participants who fall outside the specified age range for the study
- Those who do not meet the health and safety requirements necessary to ensure participant safety throughout the study
The trial will last 18 months and includes regular follow-up visits to monitor participants’ health, assess changes in symptoms, and track any side effects. Throughout the study, various assessments will be repeated to measure progress, with a final evaluation at the end to determine the overall effectiveness of the treatment.
Summary
Currently, there is one active clinical trial for lysosomal storage disorder, specifically targeting Niemann-Pick type C disease and GM1 or GM2 gangliosidosis. This trial is testing nizubaglustat, an oral medication designed to address the underlying metabolic problems in these rare genetic conditions.
The study is being conducted across six European countries: Sweden, Germany, Portugal, France, Italy, and Spain, providing access to patients across multiple regions. The trial focuses on children and young adults who developed neurological symptoms during childhood, particularly those experiencing movement and coordination difficulties.
The 18-month study period allows researchers to thoroughly evaluate both the safety and effectiveness of this new treatment approach. The research aims to provide valuable information that could lead to better treatment options for people living with these challenging and progressive conditions.