Not recruitingRare disease

Study on MAS825 for Patients with Monogenic IL-18 Driven Autoinflammatory Diseases, Including NLRC4-GOF, XIAP Deficiency, or CDC42 Mutations

Fast replyRegistered drugNo placebo

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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 certain rare autoinflammatory diseases, which are conditions where the immune system mistakenly attacks the body, causing inflammation. The specific diseases being studied include NLRC4-Gain of Function (GOF), also known as autoinflammation with infantile enterocolitis (AIFEC), X-linked Inhibitor of Apoptosis Protein (XIAP) deficiency, and CDC42 mutations. These conditions can lead to various symptoms, including fever, rash, and joint pain, due to the body's immune response being overactive.

The treatment being tested in this study is called MAS825, which is a type of medication known as a human IgG1 monoclonal antibody. This medication works by targeting specific proteins in the body, IL-1 beta and IL-18, which are involved in the inflammatory process. By blocking these proteins, MAS825 aims to reduce inflammation and prevent disease flares, which are periods when symptoms worsen. Some participants in the study will receive MAS825, while others will receive a placebo, which is a substance with no active medication.

The purpose of the study is to evaluate how effective and safe MAS825 is in preventing flares in patients with these autoinflammatory diseases. Participants will receive the treatment through an injection into a vein, and the study will be conducted over several periods. During these periods, the health and response of the participants will be closely monitored to assess the treatment's impact on their condition. The study aims to provide valuable information on whether MAS825 can help manage these rare diseases effectively.

The research process

The trial runs in 5 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Joining the study
Upon joining the study, the patient must provide written informed consent. For pediatric patients, consent must be obtained from a parent or legal guardian, and assent from the patient if required.
The patient must have a genetic diagnosis of NLRC4-GOF, XIAP deficiency, or CDC42 mutation, and show evidence of active disease at the first treatment.
Step 2
Period 1: initial treatment
The patient receives the medication MAS825, which is a human igg1 monoclonal antibody against human il-1 beta and human il-18. It is administered as a solution for injection through intravenous use.
The dosage and frequency of administration are determined by the study protocol, focusing on the prevention of disease flares.
Step 3
Period 2: randomized withdrawal
During this period, the patient may continue receiving MAS825 or a placebo. The assignment is randomized and double-blinded, meaning neither the patient nor the healthcare provider knows which treatment is being administered.
The primary goal is to assess the occurrence of disease flares compared to the placebo, using the Physician's Global Assessment and inflammatory markers.
Step 4
Period 3: follow-up
The patient continues to be monitored for any disease activity and response to the treatment.
Secondary assessments include serological markers, glucocorticoid therapy levels, and time to first flare, among others.
Step 5
End of study
The study is estimated to conclude by June 2027. At the end of the study, the patient's overall response to the treatment and any side effects are evaluated.
The results contribute to understanding the efficacy and safety of MAS825 in treating autoinflammatory diseases.

Who can join the trial?

6 criteria

Patients must be male or female and weigh at least 3 kg (about 6.6 pounds).
For children, a written agreement from their parent(s) or legal guardian(s) is needed, and the child may also need to agree, depending on local rules. For adults, they must provide written agreement themselves, or if they can't, their legal representative can do so if allowed.
For Cohort 1, patients must have a genetic diagnosis of one of the following: **NLRC4-GOF**, **XIAP deficiency**, or **CDC42 mutation**. These are specific genetic conditions related to the immune system.
For Cohort 1, patients should have a history and medical tests that match conditions like **autoinflammation with infantile enterocolitis** (also known as **AIFEC** or **NLRC4-GOF**), **XIAP**, or **CDC42**.
For Cohort 1, at the start of treatment, there must be signs of active disease.
For Cohort 2, patients must have a genetic diagnosis of **NLRC4-GOF**, **XIAP deficiency**, or **CDC42 mutations** and be receiving treatment with **MAS825** in a special program managed by Novartis.

Who cannot join the trial?

8 criteria

Patients who have other serious health conditions that could interfere with the study.
Patients who are currently participating in another clinical trial.
Patients who have had a recent infection that could affect the study results.
Patients who are pregnant or breastfeeding.
Patients who have a history of allergic reactions to similar medications.
Patients who are unable to follow the study procedures or attend study visits.
Patients who have a history of substance abuse that could interfere with the study.
Patients who have received certain treatments recently that could affect the study.

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Verified sites

All sites with verified contact details – recruitment status may not be available; ask directly

Verified
Assistance Publique Hopitaux De Paris
Paris, France
Verified
Bambino Gesu Childrens Hospital
Rome, Italy
Responsive
Fundacion Para La Investigacion Biomedica Del Hospital Universitario La Paz
Madrid, Spain

Trial locations

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Investigated drugs

MAS825 is a medication being studied for its ability to prevent flares in patients with certain autoinflammatory diseases. These diseases are driven by specific genetic mutations, such as NLRC4-GOF, XIAP deficiency, or CDC42 mutations. The trial aims to evaluate how effective, safe, and tolerable MAS825 is for patients with these conditions.

What is already known about the treatment

MAS825 – This medication is administered orally and is currently being studied in clinical trials for its effectiveness in treating certain autoinflammatory diseases, such as NLRC4-Gain of Function, XIAP deficiency, and CDC42 mutations. These conditions are characterized by excessive inflammation due to genetic mutations. MAS825 works by targeting specific pathways involved in the inflammatory process, aiming to reduce the frequency and severity of disease flares. It is classified as an anti-inflammatory agent, and its development is focused on improving the quality of life for patients with these rare genetic disorders.

Investigated diseases

NLRC4-Gain of Function (GOF)
This is a rare autoinflammatory disease characterized by excessive inflammation due to a genetic mutation in the NLRC4 gene. It often presents with symptoms such as recurrent fevers, abdominal pain, and inflammation in various parts of the body. The disease can lead to episodes of severe inflammation, known as flares, which can affect the gastrointestinal tract and other organs. Over time, these flares can cause significant discomfort and may impact daily activities. The condition is typically diagnosed in infancy or early childhood.
X-linked Inhibitor of Apoptosis Protein (XIAP) Deficiency
This genetic disorder affects the immune system, leading to increased susceptibility to infections and inflammatory conditions. It is caused by mutations in the XIAP gene, which plays a role in regulating cell death and immune responses. Patients may experience recurrent fevers, enlarged lymph nodes, and gastrointestinal issues. The disease can also lead to complications such as hemophagocytic lymphohistiocytosis (HLH), a severe inflammatory response. Symptoms often begin in childhood and can vary in severity.
Cell Division Control Protein 42 Homolog (CDC42) Mutation
This condition involves mutations in the CDC42 gene, which is important for cell signaling and immune function. It can result in a range of symptoms, including recurrent infections, skin rashes, and inflammation. The disease may also affect the development and function of blood cells and the immune system. Patients often experience episodes of inflammation that can impact various organs. The onset of symptoms typically occurs in early childhood, and the condition can vary widely in its presentation.