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Active, not recruitingNCT04641442MASter-1Updated Oct 9, 2026

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

A Phase 2 interventional study of MAS825 and Placebo in NLRC4-GOF, AIFEC (Autoinflammation With Infantile Enterocolitis), XIAP Deficiency, CDC42 Mutations, sponsored by Novartis Pharmaceuticals. Active, not recruiting at 12 sites in 7 countries. Open to participants aged 0 Years and older. Per ClinicalTrials.gov, last updated 2026-10-09.

Sponsored by Novartis Pharmaceuticals (part of Novartis) · Phase 2, Interventional, and Treatment

Phase
Phase 2
Study type
Interventional
Enrollment
17
Allocation
Randomized
Ages
0 Years and older
Sex
All
01

Study summary

This study is a Phase 2 trial designed to evaluate the clinical efficacy, safety, and tolerability of MAS825 in patients with NLRC4-GOF, XIAP deficiency, or CDC42 mutations.

Read the detailed description

This is a three-period study, with an open-label, single-arm active treatment in Period 1 followed by a randomized-withdrawal, double-blinded, placebo-controlled design in Period 2, and an open label, long-term safety follow-up in Period 3, Period 3s, \& Period 3s open label extension.

The total study duration is up to approximately 11 years.

Patients who enter Period 2 will be randomized to MAS825 or matching placebo in a 1:1 ratio.

Cohort 1 patients will complete all periods of the study.

Cohort 2: Patients who are receiving MAS825 in a Novartis Managed Access Program with a diagnosis of NLRC4-GOF, XIAP deficiency, or CDC42 mutation who meet criteria will be eligible to directly enter into Period 3 open-label long-term safety follow-up. They can continue into Period 3s, and Period 3s open-label extension.

02

Conditions studied

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

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Keywords

  • NLRC4-GOF
  • AIFEC
  • enterocolitis
  • autoinflammation
  • MAS
  • NLRC4 (SCAN4)
  • XIAP deficiency
  • CDC42 mutations
03

In context

Enterocolitis

21 studies on the registry are indexed under Enterocolitis; 3 are open to participants now.

This study's enrollment of 17 is below the median of 75 across 14 interventional studies indexed under Enterocolitis.

Browse Enterocolitis studies →

Lead sponsor

Novartis Pharmaceuticals is the lead sponsor of 2,718 studies on the registry; 221 are open to participants now.

Of its 585 completed or terminated interventional studies of FDA-regulated products, 438 (75%) have results posted.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
0 Years and older
Sexes eligible
All
Accepts healthy volunteers
No

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

For all Patients:

  1. Male and female patients weighing at least 3 kg
  2. Written by parent(s)/legal guardian(s) for the pediatric patients and assent by the pediatric patient (depending on local requirements) must be obtained before any study-specific assessment is performed. For adult patients, written informed consent by patients capable of giving consent, or when the patient is not capable of giving consent, by his/her legal/authorized representative (if allowed according to local requirements).

    Cohort 1 specific inclusion criteria:

  3. Patients with a genetic diagnosis of either NLRC4-GOF, XIAP deficiency, or CDC42 mutation
  4. Clinical history and investigations consistent with autoinflammation and infantile enterocolitis (AIFEC/NLRC4-GOF), XIAP or CDC42. XIAP patients must have persistent disease or be resistant to escalating therapy.
  5. At first treatment, evidence of active disease as assessed by inflammatory markers and PGA

    Cohort 2 specific inclusion criteria:

  6. Patients with a genetic diagnosis of NLRC4-GOF, XIAP deficiency, or CDC42 mutations who are being treated with MAS825 in a Novartis Managed Access Program (MAP).

Exclusion criteria

Exclusion Criteria:

  1. History of to any of the study drugs or to drugs of similar chemical classes or to any of the .
  2. Signs and symptoms, in the judgment of the investigator, of active bacterial, fungal, parasitic or viral infections, excluding chronic Epstein-Barr Virus (EBV).

    - COVID-19 specific: If in line with health and governmental authority guidance, it is highly recommended that testing to exclude COVID-19 using PCR or comparable approved methodology be completed within 1 week prior to first dosing.

  3. Any conditions or significant medical problems, which in the opinion of the investigator places the patient at unacceptable risk for MAS825 therapy
  4. Previous treatment with anti-rejection and/or immunomodulatory drugs within the past 28 days or 5 half-lives (whichever is the longer) for immunomodulatory therapeutic antibodies (or as listed in the prohibited medications section) prior to MAS825 treatment with the exceptions of , cyclosporin and targeted binding or blocking therapies.
  5. A positive test result at Screening. Evidence of prior testing within 3 months is sufficient.
  6. A positive surface antigen (HBsAg) or test result at Screening. Evidence of prior testing within 3 months is sufficient.
  7. Presence of tuberculosis infection as defined by a positive TB test at Screening. Evidence of prior testing within 3 months is sufficient.
  8. within 1 month prior to MAS825 treatment, during the trial, and up to 3 months following the last dose.
  9. Pregnant or nursing (lactating) females.
  10. Female patients of (or Tanner stage 2 or above) who are or might become sexually active, agree to use highly effective methods to prevent pregnancy while on MAS825 therapy
  11. Patients weighing >160 kg at Screening.
  12. For CDC42 mutation patients: Takenouchi-Kosaki syndrome - CDC42 mutations associated with a diverse syndrome characterized by variable development delays, cardiac, brain and hematological abnormalities.
Terms in these criteria, in plain language(11)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

Hypersensitivity

An allergy, or another reaction of the immune system, to a substance. “Hypersensitivity to the study drug” means a known allergic reaction to it — not every side effect a medicine can have.

Excipients

The other ingredients in a medicine besides the active drug, such as fillers, colours or preservatives.

Clinically significant

Judged by the study doctor to matter for your health or for the study. It is a doctor’s decision, so ask the study team if you are unsure whether something counts.

Corticosteroids (steroids)

Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.

Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.

HIV

The human immunodeficiency virus, which weakens the immune system.

Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.

Hepatitis B tests

Hepatitis B is a virus that infects the liver. These are separate tests: HBsAg positive usually means a current infection (a recent vaccination can briefly cause it too); total anti-HBc (HBcAb) positive means an infection now or in the past; HBV DNA measures how much virus is in the blood.

Some studies accept a past infection if HBV DNA is undetectable, sometimes with antiviral medicine during the study. Check what this study allows.

Hepatitis C tests

Hepatitis C is a virus that infects the liver. An HCV antibody test can stay positive after an infection has cleared (and is occasionally positive without one); an HCV RNA test shows whether the virus is there now.

After treatment, hepatitis C counts as cured when HCV RNA is still undetectable 12 weeks or more after the treatment ended. Studies often accept people cured this way.

Live vaccines

Vaccines made with a weakened form of the germ, such as measles–mumps–rubella (MMR), chickenpox and yellow fever. They can be risky when the immune system is weakened. Flu injections are not live; the nasal flu spray is.

Childbearing potential

Able to become pregnant: from the first period until menopause, unless permanently unable to through surgery (removal of the womb, or of both ovaries or both fallopian tubes).

Criteria for people of childbearing potential usually ask for a negative pregnancy test and for contraception during the study and for a time after it.

Contraception

Ways of preventing pregnancy. “Highly effective” methods fail less than 1% of the time a year when used correctly — for example an IUD or an implant.

Criteria usually say which methods count and how long to keep using them after the last dose, sometimes for male participants too. Some studies accept a partner’s vasectomy if it was confirmed successful and that person is the participant’s only sexual partner.

05

Study design

Phase
Phase 2
Primary purpose
Treatment
Allocation
Randomized
Intervention model
Parallel assignment
Masking
Triple (Participant, Care provider, Investigator)
Enrollment
17 participants (actual)

Study arms

  • Experimental
    MAS825

    Experimental drug

    Biological: MAS825

  • Placebo comparator
    Placebo

    matching placebo

    Biological: Placebo

Interventions

  • BiologicalMAS825

    Experimental drug

  • BiologicalPlacebo

    matching placebo

06

What researchers measure

Primary outcomes

  1. Cohort 1: Occurrence of disease flare in patients with MAS825 treated patients compared with placebo during Period 2 assessed by Physician's Global Assessment and inflammatory markers

    To determine the efficacy of MAS825 in prevention of flares in patients with monogenic IL-18 driven autoinflammatory diseases, including NLRC4-GOF, XIAP deficiency or CDC42 mutations

    Time frame: Period 2 (during the randomized, placebo-controlled period of up to 6 months)

Secondary outcomes

  1. All cohorts: Number and severity of safety assessments and adverse events

    To evaluate the safety and tolerability of MAS825

    Time frame: Screening through EOS (End of Study) (up to approximately 11 years)

  2. All cohorts: Confirmation of serological markers of MAS825

    Evaluate the serological markers of MAS825

    Time frame: Day 1 through EOS (up to approximately 11 years)

  3. Cohort 1: PGA and inflammatory markers

    Evaluate the efficacy of MAS825 to improve the clinical status of patients with NLRC4-GOF, XIAP deficiency or CDC42 mutations

    Time frame: Day 29, end of Period 1 (approximately 6 months), end of Period 2 (year 1), end of Period 3 (year 4), and end of Period 3s (up to year 6)

  4. Cohort 1: Serological remission via inflammatory markers

    Evaluate efficacy of MAS825 to achieve serological remission

    Time frame: Day 29, end of Period 1 (up to 6 months), and end of Period 2 (year 1), end of Period 3 (year 4), and end of Period 3s (up to year 6)

  5. Cohort 1: Glucocorticoid therapy <0.2mg/kg by end of period 1

    Evaluate the effect of MAS825 on concomitant glucocorticoid administration

    Time frame: End of Period 1 (approximately 6 months)

  6. Cohort 1: Time to first flare

    Evaluate effect of MAS825 on the time to first flare

    Time frame: Period 2 (during the randomized, placebo-controlled period of up to 6 months)

  7. All cohorts: Physician Severity Assessment of Disease Signs and Symptoms scale (PSADSS)

    Evaluate the efficacy of MAS825 to improve signs and symptoms of the disease

    Time frame: Screening through EOS (up to approximately 11 years)

  8. All cohorts: Patient / Parent global assessment of disease activity (PPGA) scale

    Evaluate effect of MAS825 on patient reported outcomes over time

    Time frame: Screening through EOS (up to approximately 11 years)

07

Study locations

12 sites
08

References and documents

Individual participant data

Plan to share: Yes — Novartis is committed to sharing with qualified external researchers, access to patient-level data and supporting clinical documents from eligible studies. These requests are reviewed and approved by an independent review panel on the basis of scientific merit. All data provided is anonymized to respect the privacy of patients who have participated in the trial in line with applicable laws and regulations. This trial data availability is according to the criteria and process described on www.clinicalstudydatarequest.com

No publications or documents are linked to this record.

09

Updates

1 registry update since Sep 25, 2026
Minor edits
Nothing that changes what the study is or who can join. Edited: verification date, registry dates and site details
1 update, last Oct 9, 2026
Show all 1 update
  1. Oct 9, 2026
    Minor edits only
    + 3 other changes: verification date, registry dates and site details

From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗

10

Registry details

Key details

Study ID
NCT04641442
Responsible party
Sponsor
First posted
Nov 23, 2020
Start date
Dec 18, 2020
Primary completion
Oct 14, 2025
Completion
Nov 23, 2032 (estimated)
Last update
Oct 9, 2026

Oversight

Data monitoring committee
Yes
FDA-regulated drug
Yes
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is active, not recruiting, as verified in Oct 2026. You cannot join it, but the record below documents what was studied.

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Discussion

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Studies of the drug tested here: Arumakimig

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