NLRC4-GOF, XIAP Deficiency, CDC42 Mutations
Conditions
Interventions
add-on of study drug to standard of care
Sponsors
Maruyama Hideki
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1.Male and female patients weighing at least 3 kg 2.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). 3.Patients with genetic diagnosis of NLRC4-GOF, XIAP deficiency, or CDC42 mutation 4.Clinical history and investigations consistent with autoinflammation with 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
Exclusion criteria
Exclusion criteria: 1. History of hypersensitivity to any of the study drugs or to drugs of similar chemical classes or to any of the excipients. 2. Signs and symptoms, in the judgment of the investigator, of clinically significant systemic recurrent and/or evidence of active bacterial, fungal, parasitic or viral infections. - 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 thewith the exceptions of glucocorticoids, cyclosporin and targeted binding or blocking therapies. 5. A positive HIV test result at Screening. Evidence of prior testing within 3 months is sufficient.A positive HIV test result at Screening. Evidence of prior testing within 3 months is sufficient. 6. A positive Hepatitis B surface antigen (HBsAg) or Hepatitis C test result. 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. Live vaccinations within 1 month prior to MAS825 treatment, during the trial, and up to 3 months following the last dose. 9. Female patients of child-bearing potential (or Tanner stage 2 or above) who are or might become sexually active, 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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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 ] | — |
Countries
Canada, Czechia, France, Italy, Japan, Spain, Turkey, US
Contacts
Public ContactHideki Maruyama
Novartis Pharma. K.K.
Outcome results
None listed