Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease

Summary: This trial will assess the safety, efficacy and tolerability of ACZ885 in patients aged 4 years and younger with cryopyrin associated periodic syndromes (CAPS)


Eligibility: Inclusion Criteria:
  1. Male and female patients that are 28 days up to 60 months of age at the time of the screening visit.
  2. Body weight > or = 2.5 kg.
  3. Parent or legal guardian's written informed consent is required before any assessment is performed for patients.
  4. At study entry, patients should have a clinical diagnosis of FCAS, MWS, or NOMID and symptoms requiring pharmacological intervention. Prior agreement between the Investigator and Novartis for study eligibility is required for patients who do not have a molecular diagnosis of NALP3 mutations available (either testing not performed, or testing performed but negative) upon study entry. For those patients who have not been molecularly tested for NALP3 mutations, molecular testing should be performed during the course of the study.
  5. For patients treated with an IL-1 blocking agent (i.e. anakinra, rilonacept), these treatments should be discontinued prior to the baseline visit and patients must demonstrate active disease prior to treatment.
  6. Patients who are scheduled to receive an immunization, according to their local vaccination guidelines, with an inactivated vaccine must be willing to participate in the assessment schedule for vaccinated patients.
  Exclusion Criteria:
  1. Preterm neonates for whom, in the Investigator's judgment, participation in the study is not deemed appropriate.
  2. History of recurrent and/or evidence of active bacterial, fungal, or viral infections (including HIV).
  3. Patients with immunodeficiency or treatment with immunosuppressive drugs.
  4. Live vaccinations within < or = 3 months prior to screening. No live vaccinations will be allowed throughout the course of this study and up to 3 months following the last dose.
  5. Patients with an increased risk of tuberculosis (TB) infection according to following risk factors:
  -  Patients with recent close contact with persons known to have active pulmonary TB disease
  -  Foreign-born patients from countries with a high prevalence of tuberculosis
  -  Patients with recent tuberculosis infection (including children > 6 months with a positive PPD test [defined as an induration of at least 10mm])
  -  Patients with end-stage renal disease
  -  Patients with diabetes mellitus
  -  Patients receiving immunosuppressive therapy
  -  Patients with hematologic cancers.
  6. Participation in another trial within the last 30 days or 5 half-lives of the investigational compound (whichever is longer).
  7. Familial and social conditions rendering regular medical assessment not possible.
  8. Pediatric patients with neutropenia (absolute neutrophil count [ANC] < 1.5 x 10 to the 9th/l)
  Other protocol defined inclusion/exclusion criteria may apply

Relevance to patient case: not relevant