NLRC4-GOF, AIFEC (Autoinflammation With Infantile Enterocolitis), XIAP Deficiency, CDC42 MutationsPhase 2MASter-1NCT04641442
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 study testing MAS825 in people with NLRC4-GOF, AIFEC (Autoinflammation With Infantile Enterocolitis), XIAP Deficiency, CDC42 Mutations, run by Novartis Pharmaceuticals at 12 sites in 7 countries.
Trial 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 more about this study
- Who is it for?
- Ages 0 years and older
- Conditions the study is for
- NLRC4-GOF, AIFEC (Autoinflammation With Infantile Enterocolitis), XIAP Deficiency, CDC42 Mutations
- What is being tested?
- MAS825
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 17 participants
- Where
- 12 sitesin 7 countries
- Study dates
- 18 Dec 2020to 23 Nov 2032
- Phase
- Phase 2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- For all Patients:
- Male and female patients weighing at least 3 kg
- Written informed consent 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:
- Patients with a genetic diagnosis of either NLRC4-GOF, XIAP deficiency, or CDC42 mutation
- 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.
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- At first treatment, evidence of active disease as assessed by inflammatory markers and PGA
- Cohort 2 specific inclusion criteria:
- 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).
Who cannot join
- History of hypersensitivity to any of the study drugs or to drugs of similar chemical classes or to any of the excipients.
- Signs and symptoms, in the judgment of the investigator, of clinically significant 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.
- Any conditions or significant medical problems, which in the opinion of the investigator places the patient at unacceptable risk for MAS825 therapy
- 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 glucocorticoids, cyclosporin and targeted binding or blocking therapies.
- A positive HIV test result at Screening. Evidence of prior testing within 3 months is sufficient.
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- A positive Hepatitis B surface antigen (HBsAg) or Hepatitis C test result at Screening. Evidence of prior testing within 3 months is sufficient.
- Presence of tuberculosis infection as defined by a positive TB test at Screening. Evidence of prior testing within 3 months is sufficient.
- Live vaccinations within 1 month prior to MAS825 treatment, during the trial, and up to 3 months following the last dose.
- Pregnant or nursing (lactating) females.
- Female patients of child-bearing potential (or Tanner stage 2 or above) who are or might become sexually active, agree to use highly effective contraceptive methods to prevent pregnancy while on MAS825 therapy
- Patients weighing >160 kg at Screening.
- For CDC42 mutation patients: Takenouchi-Kosaki syndrome - CDC42 mutations associated with a diverse syndrome characterized by variable development delays, cardiac, brain and hematological abnormalities.
Trial locations and contacts
12 sites in 7 countries.
12 sites in 7 countries
United States4 sites
Cincinnati Children's Hospital
Cincinnati, Ohio, 45229
Texas Children´s Hospital
Houston, Texas, 77030
Children´s Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Seattle Children´s Hospital
Seattle, Washington, 98105
Czechia2 sites
Centrum detske revmatologie a autoinflamatornich onemocneni
Prague, CZ, 121 00
Ustav Imunologie 2 LF UK a FN Motol
Prague, 150 06
United Kingdom2 sites
Novartis Investigative Site
London, NW3 2QG
Great Ormond Street Hospital
London, WC1N 3JH
About this study
Official title: A Three-period Multicenter Study, With a Randomized-withdrawal, Double-blind, Placebo-controlled Design to Evaluate the Clinical 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 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.
- Conditions
- NLRC4-GOF, AIFEC (Autoinflammation With Infantile Enterocolitis), XIAP Deficiency, CDC42 Mutations
- Being tested
- MAS825, Placebo
- Keywords
- NLRC4-GOF, AIFEC, enterocolitis, autoinflammation, MAS, NLRC4 (SCAN4), XIAP deficiency, CDC42 mutations
- Medical subject headings
- Lymphoproliferative Syndrome, X-Linked, 2, Enterocolitis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MAS825Biological
Experimental drug
PlaceboBiological
matching placebo
| Study group | Role | What they receive |
|---|---|---|
| MAS825 | Experimental | Experimental drug Receives: Biological: MAS825 |
| Placebo | Placebo comparator | matching placebo Receives: Biological: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: Period 2 (during the randomized, placebo-controlled period of up to 6 months)
Secondary outcomes (8)
All cohorts: Number and severity of safety assessments and adverse events
To evaluate the safety and tolerability of MAS825
Measured: Screening through EOS (End of Study) (up to approximately 11 years)
All cohorts: Confirmation of serological markers of MAS825
Evaluate the serological markers of MAS825
Measured: Day 1 through EOS (up to approximately 11 years)
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
Measured: 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)
Cohort 1: Serological remission via inflammatory markers
Evaluate efficacy of MAS825 to achieve serological remission
Measured: 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)
Cohort 1: Glucocorticoid therapy <0.2mg/kg by end of period 1
Evaluate the effect of MAS825 on concomitant glucocorticoid administration
Measured: End of Period 1 (approximately 6 months)
Cohort 1: Time to first flare
Evaluate effect of MAS825 on the time to first flare
Measured: Period 2 (during the randomized, placebo-controlled period of up to 6 months)
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
Measured: Screening through EOS (up to approximately 11 years)
All cohorts: Patient / Parent global assessment of disease activity (PPGA) scale
Evaluate effect of MAS825 on patient reported outcomes over time
Measured: Screening through EOS (up to approximately 11 years)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Nov 2020
- Study start18 Dec 2020
- Primary completion14 Oct 2025
- Study completion23 Nov 2032 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for NLRC4-GOF, AIFEC (Autoinflammation With Infantile Enterocolitis), XIAP Deficiency, CDC42 MutationsStudies of the same condition, open and under way.
- More trials run by Novartis PharmaceuticalsThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Model description
- This study includes: * Screening * Period 1: Open-Label Treatment Period to identify responders to MAS825 * Period 2: Randomized Withdrawal Period consists of a randomized treatment withdrawal period to primarily assess the efficacy of MAS825 compared to placebo. * Period 3: Open-Label, Long-Term Safety follow-up * Period 3s: Open-Label, transition to new route of administration and safety follow-up * Period 3s: Open-Label Extension * End of Study Patients can participate in all 3 periods of the study (including the open label extension) if they have never been treated with MAS825 before. Patients who are enrolled from the Managed Access program can participate in Period 3, Period 3s, and Period 3s Open-Label Extension only after completing screening and baseline assessments.
- Masking
- Triple blind
- Who is masked
- Participant, Care provider, Investigator
- Enrolment
- 17 participants (actual)
Sponsor and investigators
- Lead sponsor
- Novartis Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04641442
- Sponsor's protocol ID
- CMAS825D12201
- Acronym
- MASter-1
- Status last verified
- Oct 2026
- First submitted
- 20 Nov 2020
- Last updated
- 9 Oct 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- 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
Study at a glance
From the registry record, last updated by the sponsor on 9 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Three-period Multicenter Study, With a Randomized-withdrawal, Double-blind, Placebo-controlled Design to Evaluate the Clinical Efficacy, Safety and Tolerability of MAS825 in Patients With Monogenic IL-18 Driven Autoinflammatory Diseases, Including NLRC4-GOF, XIAP Deficiency, or CDC42 Mutations
- ClinicalTrials.gov ID
- NCT04641442
- Acronym / sponsor ID
- MASter-1 / CMAS825D12201
- Conditions
- NLRC4-GOF, AIFEC (Autoinflammation With Infantile Enterocolitis), XIAP Deficiency, CDC42 Mutations
- Keywords
- NLRC4-GOF, AIFEC, enterocolitis, autoinflammation, MAS, NLRC4 (SCAN4), XIAP deficiency, CDC42 mutations
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 17 participants (actual)
- Lead sponsor
- Novartis PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- 18 Dec 2020 (actual)
- Primary completion
- 14 Oct 2025 (actual)
- Study completion
- 23 Nov 2032 (estimated)
- First posted
- 23 Nov 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Triple blind (participant, care provider, investigator)
- Number of arms
- 2
- Model description
- This study includes: * Screening * Period 1: Open-Label Treatment Period to identify responders to MAS825 * Period 2: Randomized Withdrawal Period consists of a randomized treatment withdrawal period to primarily assess the efficacy of MAS825 compared to placebo. * Period 3: Open-Label, Long-Term Safety follow-up * Period 3s: Open-Label, transition to new route of administration and safety follow-up * Period 3s: Open-Label Extension * End of Study Patients can participate in all 3 periods of the study (including the open label extension) if they have never been treated with MAS825 before. Patients who are enrolled from the Managed Access program can participate in Period 3, Period 3s, and Period 3s Open-Label Extension only after completing screening and baseline assessments.
| Arm | Type | Receives |
|---|---|---|
| MAS825 | Experimental | Biological: MAS825Experimental drug |
| Placebo | Placebo comparator | Biological: Placebomatching placebo |
Who may qualify
- Ages
- 0 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (9 listed)
- Male and female patients weighing at least 3 kg
- Written informed consent 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).
- Patients with a genetic diagnosis of either NLRC4-GOF, XIAP deficiency, or CDC42 mutation
- 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.
- At first treatment, evidence of active disease as assessed by inflammatory markers and PGA
Key exclusion criteria (13 listed)
- History of hypersensitivity to any of the study drugs or to drugs of similar chemical classes or to any of the excipients.
- Signs and symptoms, in the judgment of the investigator, of clinically significant active bacterial, fungal, parasitic or viral infections, excluding chronic Epstein-Barr Virus (EBV).
- Any conditions or significant medical problems, which in the opinion of the investigator places the patient at unacceptable risk for MAS825 therapy
- 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 glucocorticoids, cyclosporin and targeted binding or blocking therapies.
- A positive HIV test result at Screening. Evidence of prior testing within 3 months is sufficient.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| MAS825Experimental drug | Biological | MAS825 |
| Placebomatching placebo | Biological | Placebo |
Primary outcome
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
Time frame: Period 2 (during the randomized, placebo-controlled period of up to 6 months)
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
8 secondary outcomes
All cohorts: Number and severity of safety assessments and adverse events
Time frame: Screening through EOS (End of Study) (up to approximately 11 years)
All cohorts: Confirmation of serological markers of MAS825
Time frame: Day 1 through EOS (up to approximately 11 years)
Cohort 1: PGA and inflammatory markers
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)
Cohort 1: Serological remission via inflammatory markers
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)
Cohort 1: Glucocorticoid therapy <0.2mg/kg by end of period 1
Time frame: End of Period 1 (approximately 6 months)
Cohort 1: Time to first flare
Time frame: Period 2 (during the randomized, placebo-controlled period of up to 6 months)
All cohorts: Physician Severity Assessment of Disease Signs and Symptoms scale (PSADSS)
Time frame: Screening through EOS (up to approximately 11 years)
All cohorts: Patient / Parent global assessment of disease activity (PPGA) scale
Time frame: Screening through EOS (up to approximately 11 years)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Oct 2026.
- Individual participant dataSharing planned: 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
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
12 sites in 7 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing MAS825 in people with NLRC4-GOF, AIFEC (Autoinflammation With Infantile Enterocolitis), XIAP Deficiency, CDC42 Mutations, run by Novartis Pharmaceuticals at 12 sites in 7 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 13 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 9 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 12 sites in United States, Czechia, United Kingdom, France, Italy and 2 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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 (time frame: Period 2 (during the randomized, placebo-controlled period of up to 6 months)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Oct 2026.