Active not recruitingPHASE2INTERVENTIONAL

Study to Evaluate the Efficacy, Safety and Tolerability of MAS825 in Patients With Monogenic IL-18 Driven Autoinflammatory Diseases, Including NLRC4-GOF, XIAP Deficiency, or CDC42 Mutations

This study, called a Phase 2 trial, is looking at a new medicine named MAS825. It's for people with very rare genetic conditions such as NLRC4-GOF, XIAP deficiency, or CDC42 mutations, which can cause ongoing inflammation. The main goals are to find out if MAS825 is safe, if it helps to control the symptoms of these conditions, and if patients can generally tolerate it without too many side effects. Some patients will receive MAS825, while others might receive a 'dummy' medicine (placebo) for a period, to help scientists compare the effects. The study will last for a number of years, following patients closely to understand the long-term impact of the treatment. This research is crucial for developing new ways to help people living with these challenging conditions.

At a glance

Status

Active not recruiting

Phase

PHASE2

Sponsor

Novartis Pharmaceuticals

Enrolment target

Start

18 Dec 2020

Estimated completion

07 Apr 2032

NLRC4-GOF, AIFEC (Autoinflammation With Infantile Enterocolitis), XIAP Deficiency, CDC42 Mutations

What is this study about?

This study is investigating a new medication called MAS825. It's designed for people who have certain rare genetic conditions, including NLRC4-GOF, XIAP deficiency, or CDC42 mutations. These conditions can cause the body's immune system to attack itself, leading to ongoing inflammation and various health problems. The main purpose of this study is to explore if MAS825 can effectively reduce these inflammatory symptoms and improve the overall health of patients.

This study is a 'Phase 2' trial, which means researchers are trying to find the right dose, understand how well the medicine works, and gather more information about its safety. The study will look at how well patients tolerate the medicine and if there are any side effects. By carefully studying patients over several years, the researchers hope to understand the full picture of how MAS825 might help people with these conditions.

The study is divided into three main parts, which helps researchers carefully evaluate the medicine. This includes a period where everyone receives the active medicine, followed by a period where some receive the active medicine and others receive a dummy medicine (placebo), and then a long-term follow-up to keep monitoring safety. The findings from this research will be very important in working towards new treatment options for these challenging and often life-long conditions.

Key takeaways

This study is testing a new medicine (MAS825) for rare inflammatory conditions.
It aims to see if MAS825 is safe, effective, and well-tolerated.
Participation involves long-term follow-up over 4-5 years.
Some patients will receive MAS825, others a dummy medicine (placebo) for a period.
You will receive close medical monitoring throughout the study.
You can withdraw from the study at any time.

Who may be eligible?

To join this study, people must have a genetic diagnosis of NLRC4-GOF, XIAP deficiency, or CDC42 mutations. For those with XIAP, their condition should be ongoing or not responding well to current treatments. All participants must show signs of active disease when they start the study, which doctors will check using tests and assessments.

Patients taking part in the main study (Cohort 1) must meet these genetic and disease activity requirements. There's also a different group (Cohort 2) for patients who are already receiving MAS825 through a special program and meet specific criteria; they can join the long-term safety part of the study directly.

There are also some reasons why someone might not be able to join. These include having a known allergy to MAS825 or similar medicines, or having an active serious infection (except for chronic Epstein-Barr Virus). Doctors will also carefully assess if any other health problems might make MAS825 unsafe for a patient. Importantly, any patient who has recently received certain strong anti-rejection or immune-modifying drugs would not be able to participate.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Do you have a genetic diagnosis of NLRC4-GOF, XIAP deficiency, or CDC42 mutations?
If you have XIAP deficiency, is your condition ongoing or not responding well to current treatments?
Do you show signs of active disease when assessed by your doctor?
Are you able to attend regular clinic visits for several years?
Do you have any severe active infections (excluding chronic EBV)?
Have you recently used strong anti-rejection or immune-modifying drugs?

Answer every question to see your result.

What does participation involve?

Taking part in this study means you would be followed closely for a long time, up to 4 to 5 years. The study has different periods. Initially, in Period 1, everyone will receive MAS825. Then, in Period 2, some patients will continue with MAS825, while others will receive a dummy medicine (placebo) – you won't know which one you're getting. After this, all patients will move into Period 3 and 3s for long-term safety monitoring, where they will likely receive MAS825 again. You'll have regular visits to the clinic for check-ups, blood tests, and other assessments to monitor your health and how the medicine is working. For those joining directly into the long-term safety part (Cohort 2), your involvement would last about 4 years, focusing on continued monitoring of MAS825.

Potential risks and benefits

Participating in research studies like this can offer several potential benefits. You would receive close medical attention and access to a new, investigational medicine (MAS825) that might help manage your condition. However, it's also important to be aware of potential risks. MAS825 might cause side effects, some of which we may not fully know yet. There's also a chance the medicine might not work for you, or that you could receive a placebo for a period. You have the right to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (13)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

Cincinnati Children's Hospital
Verified postcode
Cincinnati, United States
Children´s Hospital of Philadelphia
Verified postcode
Philadelphia, United States
Texas Children´s Hospital
Verified postcode
Houston, United States
Seattle Children´s Hospital
Verified postcode
Seattle, United States
Centrum detske revmatologie a autoinflamatornich onemocneni
Verified postcode
Prague, Czechia
Novartis Investigative Site
Verified postcode
Prague, Czechia
Ustav Imunologie 2 LF UK a FN Motol
Verified postcode
Prague, Czechia
Novartis Investigative Site
Verified postcode
Paris, France
Bambino Gesu Hospital
Verified postcode
Roma, Italy
Novartis Investigative Site
Verified postcode
Chiba, Japan
Novartis Investigative Site
Verified postcode
Madrid, Spain
Novartis Investigative Site
Verified postcode
London, United Kingdom

Common questions

What are NLRC4-GOF, XIAP deficiency, and CDC42 mutations?

These are rare genetic conditions that can cause the body's immune system to become overactive, leading to inflammation and various health problems.

What is MAS825?

MAS825 is an investigational medicine being tested in this study to see if it can help control the inflammation caused by these rare conditions.

What is a 'dummy medicine' (placebo)?

A placebo looks just like the real medicine but contains no active ingredients. It helps researchers compare the effects of the active medicine more accurately.

How long will I be in the study?

The study will last for approximately 4 to 5 years, depending on which part of the study you join.

Can I stop being part of the study if I want to?

Yes, you can choose to leave the study at any time, and this will not affect your future medical care.