Study on the Effectiveness and Safety of Nizubaglustat in Patients with Niemann-Pick Type C, GM1, or GM2 Gangliosidosis

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What is this study about?

This clinical trial is focused on studying the effects of a medication called nizubaglustat (also known by its code name AZ-3102) on certain rare diseases. The diseases being studied are Niemann-Pick type C disease and two types of gangliosidosis, specifically GM1 gangliosidosis and GM2 gangliosidosis. These are serious conditions that affect the body’s ability to break down certain substances, leading to a buildup that can cause various health problems.

The purpose of the study is to evaluate how well nizubaglustat works and how safe it is for people with these conditions. Participants in the study will be randomly assigned to receive either the medication or a placebo, which is a substance with no active drug. The study will last for 18 months, during which participants will take the medication in capsule form by mouth. Throughout the study, participants will have regular check-ups to monitor their health and any changes in their condition.

The main goal is to see if nizubaglustat can improve symptoms related to movement difficulties, known as ataxia, which are common in these diseases. The study will also look at other aspects of the participants’ health and well-being, such as their ability to perform daily activities and any side effects they might experience. This research aims to provide valuable information that could lead to better treatment options for people living with these challenging conditions.

1 initial assessment

Upon joining the study, an initial assessment is conducted to confirm eligibility. This includes a review of medical history and current medications.

Participants must have a confirmed diagnosis of Niemann-Pick type C disease or GM1/GM2 gangliosidoses and meet specific criteria related to age and symptom onset.

2 baseline evaluation

A baseline evaluation is performed to assess the current state of health. This includes measuring the Scale for Assessment and Rating of Ataxia (SARA) score, which evaluates coordination and balance.

Additional tests may include assessments of speech, posture, and other neurological functions.

3 medication administration

Participants receive the study medication, nizubaglustat, in capsule form. The medication is taken orally.

The dosage and frequency are determined by the study protocol, and participants are monitored for any side effects.

4 regular follow-up visits

Regular follow-up visits are scheduled to monitor progress and adjust treatment as necessary. These visits occur at specified intervals over the 18-month study period.

During these visits, various assessments are repeated, including the SARA score and other neurological evaluations.

5 final assessment

At the end of the 18-month period, a final assessment is conducted to evaluate the overall effectiveness of the treatment.

The primary focus is on changes in the SARA score from the baseline to the end of the study.

Who Can Join the Study?

Provide written informed consent, which means agreeing to participate in the study after understanding all the details. If the participant is under 18, a parent or legal guardian must sign, and the participant may also need to agree.
Have a confirmed diagnosis of Niemann-Pick type C disease or GM1/GM2 gangliosidoses. This means having specific genetic changes or symptoms that match the disease, along with certain lab test results.
Be newly diagnosed or not currently taking approved treatments for Niemann-Pick type C disease, like miglustat, and be unwilling or unable to take them.
Have started showing neurological symptoms, like problems with movement or coordination, between the ages of 2 and 15 years.
Have a certain level of disability related to movement problems, measured by a test called the SARA score. This score should be between 3 and 30, with some specific conditions for scores between 3 and 5.
Be willing and able to complete all the necessary assessments during the study.
Be able to take and swallow the study medication.
For females who can become pregnant, they must either not be sexually active or use highly effective birth control methods before and during the study, and for a short time after.
For females who cannot become pregnant, they must have had certain medical procedures or be postmenopausal, which means they have not had a menstrual period for at least a year.
Non-vasectomized males must agree to use a condom with spermicide or not engage in sexual activity during the study and for 90 days after the last dose. Their female partners must also agree to this.
Vasectomized males must use a condom during sexual activity if the procedure was done less than 6 months before the study. If it was done more than 6 months ago, they still need to use a condom.
Male participants must agree not to donate sperm from the start of the study until 90 days after the last dose.
Participants must be willing to share information about any current medications or treatments they are using for their condition.

Who Cannot Join the Study?

Participants who do not have Niemann-Pick type C disease or GM1/GM2 gangliosidoses cannot join the study. These are specific genetic disorders that affect the body’s ability to break down certain substances.
Participants who are not in the late-infantile or juvenile stages of the disease are excluded. This means the study is only for those who developed symptoms at a young age.
Participants who are not within the specified age range for the study cannot participate. The study is designed for certain age groups.
Participants who do not meet the health and safety requirements set by the study cannot join. These requirements ensure the safety of all participants.

Where you can join this trial?

Verified and Recommended Sites

No sites found in this category

Verified Sites

Site Name	City	Country	Status
Unidade Local De Saúde De Santa Maria, E.P.E.	Lisbon	Portugal

Other Sites

Site Name	City	Country
Hospital Infantil Universitario Nino Jesus	Madrid	Spain
Queen Silvia Childrens Hospital – Sahlgrenska University Hospital – Vaestra Goetalandsregionen	Gothenburg	Sweden
SphinCS GmbH	Hochheim Am Main	Germany
Centro Hospitalar Universitario De Santo Antonio E.P.E.	Porto	Portugal
Hopital Beaujon	Clichy	France
Fondazione I.R.C.C.S. Istituto Neurologico Besta	Milan	Italy
Hvffraxn Vgvv dazksmnj	Barcelona	Spain

Trial status

Country	Status	Recruitment Start
France	Recruiting	01.05.2025
Germany	Recruiting	01.05.2025
Italy	Recruiting	01.05.2025
Portugal	Recruiting	01.05.2025
Spain	Recruiting	01.05.2025
Sweden	Recruiting	01.05.2025

Trial locations

Investigated drugs:

NIZUBAGLUSTAT

Nizubaglustat (AZ-3102) is an oral medication being studied for its potential to improve symptoms in patients with certain rare genetic disorders, specifically Niemann-Pick type C disease and GM1 or GM2 gangliosidosis. These conditions can cause problems with movement and coordination, known as ataxic manifestations. The trial aims to see if taking nizubaglustat can help reduce these symptoms over an 18-month period.

Niemann-Pick Type C Disease – This is a rare genetic disorder that affects the body’s ability to transport cholesterol and other fatty substances inside cells. Over time, these substances accumulate in various tissues, including the brain, liver, and spleen, leading to progressive neurological and physical symptoms. Individuals with this condition may experience difficulties with movement, balance, and coordination, as well as problems with speech and swallowing. The disease can also cause liver and lung complications. Symptoms typically appear in childhood but can vary widely in severity and progression.

GM1 Gangliosidosis – This is a genetic disorder that results from the accumulation of certain molecules in the body due to a deficiency of the enzyme beta-galactosidase. This accumulation primarily affects the brain and spinal cord, leading to progressive neurological decline. Symptoms can include developmental delay, muscle weakness, and seizures. The disease is categorized into three types based on the age of onset: infantile, juvenile, and adult. Each type varies in severity and progression, with the infantile form being the most severe.

GM2 Gangliosidosis – This is a group of genetic disorders caused by the accumulation of GM2 gangliosides due to a deficiency in specific enzymes. The most well-known forms are Tay-Sachs disease and Sandhoff disease. These conditions primarily affect the nervous system, leading to progressive neurological deterioration. Symptoms can include muscle weakness, loss of motor skills, and seizures. The disease is classified into infantile, juvenile, and adult forms, with the infantile form being the most severe and rapidly progressing.

Trial ID:

2024-515778-28-00

Protocol code:

AZA-001-301

NCT ID:

NCT07054515

Trial Phase:

Therapeutic confirmatory (Phase III)

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Study on the Effectiveness and Safety of Nizubaglustat in Patients with Niemann-Pick Type C, GM1, or GM2 Gangliosidosis

What is this study about?

Who Can Join the Study?

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