Hematological Anomalies in Children With Rasopathy

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04286360

Acronym

RAS-HEMATO

Enrollment

300

Registered

2020-02-27

Start date

2020-11-11

Completion date

2029-11-30

Last updated

2024-06-04

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

RAS Mutation

Keywords

RASopathie

Brief summary

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

No minimum to 15 Years

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

Design outcomes

Primary

Measure	Time frame
Proportion of patients with hematological abnormalities	at inclusion (within 6 months after diagnosis)

Secondary

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

Countries

France

Contacts

Primary ContactMarion STRULLU, MD

marion.strullu@aphp.fr187891611

Backup ContactJérôme Lambert, MD PhD

jerome.lambert@u-paris.fr142499742

Outcome results