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Recruiting NCT04286360

Hematological Anomalies in Children With Rasopathy

— Observational RAS Mutation

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: RAS Mutation. Basic parameters: up to 15 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
France
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

During childhood, patients with RASopathies (Noonan syndrome and related diseases) can harbor various hematological anomalies ranging from isolated monocytosis, myelemia, thrombocytopenia or splenomegaly to myeloproliferative disorders. These anomalies may spontaneously disappear or persist, sometimes leading to juvenile myelomonocytic leukemia. Guidelines for initial screening and subsequent hematological follow-up have recently been published in France: peripheral blood analysis should be performed in all newly diagnosed patients and followed by biannual peripheral blood analysis in infants until the age of 2 years. In order to describe the characteristics of these abnormalities in terms of their incidence, age of occurrence, evolution and relation to genotype, we are conducting a longitudinal prospective study whose aim is to analyze peripheral blood cell counts and smears at diagnosis and one year later. In patients \<3 years of age recruited at certain centers, biobanking of mononuclear cells will be performed. These data could yield a new insight into hematological anomalies in patients with RASopathies and thereby help physicians to determine the appropriate rhythm for hematological follow-up according to genotype.

Primary outcome measures

  • Proportion of patients with hematological abnormalities [Time frame: at inclusion (within 6 months after diagnosis)]
Secondary outcome measures (8)
  • Proportion of patients with hematological abnormalities according to genetic abnormality [Time frame: at inclusion (within 6 months after diagnosis)]
  • Proportion of patients with hematological abnormalities according to age [Time frame: at inclusion (within 6 months after diagnosis)]
  • Proportion of patients with hematological abnormalities [Time frame: at 1 year after inclusion]
  • Proportion of patients with hematological abnormalities according to age [Time frame: at 1 year after inclusion]
  • Proportion of patients with hematological abnormalities according to genetic abnormalities [Time frame: at 1 year after inclusion]
  • Evolution of proportion of patients with hematological abnormalities during childhood [Time frame: at 5 years post-inclusion]
  • Event-free survival [Time frame: at one year post-inclusion]
  • Event-free survival [Time frame: at 5 years post-inclusion]

Eligibility criteria

Inclusion criteria

  • Age < 16 years
  • Patient newly diagnosed with genetically confirmed rasopathy : Noonan syndrome, type 1 neurofibromatosis, Noonan syndrome with multiple lentigines, CBL syndrome, Costello syndrome, cardiofaciocutaneous syndrome or Legius syndrome i.e. with a germline mutation of one of these genes: PTPN11, SOS1, NRAS, RAF1, BRAF, SHOC2, MEK1, MEK2, CBL, NF1, SPRED1, KRAS, HRAS, NF1, SHOC2, LZTR1, SOS2, RIT1, RASA2, RRAS, PPP1CB, or a new gene of interest published during the recruitment period
  • No history of hematological malignancy
  • Written informed consent obtained from the parents
  • Health insurance

Exclusion criteria

  • History of malignant hematological pathology

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Study design

Observational model
Cohort

Study locations

France · 14 centers
  • CHU Angers — Angers
  • CHU Caen — Caen
  • CHU Lille — Lille
  • CHU Lyon — Lyon
  • CHU Marseille - Hôpital de la Timone — Marseille
  • CHU Montpellier — Montpellier
  • CHU Nantes — Nantes
  • Hôpital Necker APHP — Paris
  • … and 6 more centers

Identifiers

NCT: NCT04286360 · K171010J

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗