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

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What is this study about?

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.

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.

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.

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.

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.

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 Study?

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 Study?

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.

Where you can join this trial?

Verified and Recommended Sites

No sites found in this category

Verified Sites

Site Name	City	Country	Status
Hopital Necker Enfants Malades	Paris	France
Centre Hospitalier Universitaire De Bordeaux	Bordeaux	France

Other Sites

Site Name	City	Country
Hospital San Pedro De Alcantara	Caceres	Spain
Hospital Clinic De Barcelona	Barcelona	Spain
Centre Hospitalier Universitaire De Nice	Nice	France
Vseobecna Fakultni Nemocnice V Praze	Prague	Czechia
Centre Hospitalier Lyon Sud	Pierre Benite	France
Hopital Beaujon	Clichy	France
Ospedale Pediatrico Bambino Gesu’	Rome	Italy
Fgwcvyqn ncknkixdn Mbxws a Hyctuzq	Prague	Czechia
Fyppsufow Pija Lh Inezrehfmzqdz Budnwrfqt Dsa Hdxtrysg Uwqywzhypcaza Lu Pez	Madrid	Spain

Trial status

Country	Status	Recruitment Start
Czechia	Not recruiting	01.01.2021
France	Not recruiting	01.01.2021
Italy	Not recruiting	01.01.2021
Spain	Not recruiting	01.01.2021

Trial locations

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.

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.

Trial ID:

2023-504419-34-00

Protocol code:

CMAS825D12201

NCT ID:

NCT04641442

Trial Phase:

Therapeutic exploratory (Phase II)

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

What is this study about?

Who Can Join the Study?

Who Cannot Join the Study?