Ongoing Clinical Trials for Autoinflammation with Infantile Enterocolitis
Autoinflammation with infantile enterocolitis is a rare genetic condition where the immune system mistakenly attacks the body, causing inflammation. Currently, there is 1 ongoing clinical trial testing a new medication called MAS825 that aims to prevent flares in patients with this condition and related genetic disorders. The trial is taking place across several European countries. (Also known as: AIFEC, NLRC4-GOF)
Clinical trial locations
- Czechia
- France
- Italy
- Spain
Study on MAS825 for Patients with Monogenic IL-18 Driven Autoinflammatory Diseases, Including NLRC4-GOF, XIAP Deficiency, or CDC42 Mutations
This trial is focused on studying rare autoinflammatory diseases caused by specific genetic mutations. These conditions include NLRC4-Gain of Function (also known as autoinflammation with infantile enterocolitis), XIAP deficiency, and CDC42 mutations. In these diseases, the immune system becomes overactive, leading to periods of severe inflammation called flares. Symptoms can include recurrent fevers, abdominal pain, skin rashes, and joint pain.
Inclusion criteria: To participate in this study, patients must weigh at least 3 kg (about 6.6 pounds) and have a confirmed genetic diagnosis of one of the three conditions mentioned above. For children, written consent from a parent or legal guardian is required, and the child may also need to give their agreement depending on local regulations. Adults must provide their own written consent, or their legal representative can do so if permitted. Patients in the first group must show signs of active disease at the start of treatment. There is also a second group for patients already receiving MAS825 through a special program managed by Novartis.
Exclusion criteria: Patients cannot join the study if they have other serious health conditions that might interfere with the research, are currently participating in another clinical trial, or have had a recent infection that could affect results. Pregnant or breastfeeding women are not eligible. Patients with a history of allergic reactions to similar medications, those unable to follow study procedures or attend visits, or those with a history of substance abuse are also excluded. Additionally, patients who have received certain recent treatments that could affect the study cannot participate.
Trial focus and procedures: The study is designed to test whether MAS825 can effectively prevent disease flares in patients with these autoinflammatory conditions. The trial is divided into several periods. After joining and providing consent, patients receive MAS825 during an initial treatment period. This medication is a monoclonal antibody that works by blocking two proteins called IL-1 beta and IL-18, which play a key role in causing inflammation. The treatment is given through an injection into a vein.
During the second period, called the randomized withdrawal phase, some patients will continue receiving MAS825 while others will receive a placebo (a substance with no active medication). Neither the patients nor their doctors will know which treatment is being given. This helps researchers compare how well MAS825 works compared to no active treatment. The main goal is to see if MAS825 reduces the occurrence of flares, which are measured using a physician’s assessment and markers of inflammation in the blood.
In the third period, patients continue to be monitored for disease activity and their response to treatment. Doctors will look at various factors, including blood test results, the amount of steroid medication needed, and how long it takes for the first flare to occur. The study is expected to conclude by June 2027, at which point researchers will evaluate the overall effectiveness and safety of MAS825.
Investigational drug: The medication being tested is called MAS825. It is a human monoclonal antibody that targets and blocks IL-1 beta and IL-18, two proteins that drive inflammation in these genetic diseases. By blocking these proteins, MAS825 aims to reduce inflammation and prevent flares, improving patients’ quality of life. The treatment is given as a solution through intravenous injection, with the dosage and frequency determined by the study protocol.
Summary
Currently, there is one clinical trial available for patients with autoinflammation with infantile enterocolitis and related genetic conditions. The trial is being conducted in four European countries: Czechia, France, Italy, and Spain. This research focuses on testing MAS825, a novel monoclonal antibody that targets the inflammatory process by blocking specific proteins involved in these rare diseases.
The study represents an important step forward in finding effective treatments for these challenging conditions, which often begin in childhood and can significantly impact daily life. The trial’s design, which includes a randomized withdrawal phase, will help researchers understand whether MAS825 can truly prevent disease flares compared to no active treatment. Patients and families interested in participating should discuss eligibility with their healthcare providers and consider whether traveling to one of the participating countries is feasible.
