Hematological Anomalies in Children With Rasopathy (RAS-HEMATO)

June 3, 2024 updated by: Assistance Publique - Hôpitaux de Paris

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.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

300

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • France
      • Angers, France
        • Recruiting
        • CHU Angers
        • Contact:
          • Estelle Colin, MD
      • Caen, France
        • Recruiting
        • CHU Caen
        • Contact:
          • Marion Gerard, MD
      • Lille, France
        • Recruiting
        • CHU Lille
        • Contact:
          • Anne Dieux Coeslier, MD
      • Lyon, France
        • Recruiting
        • CHU Lyon
        • Contact:
          • Charles Patrick Edery, Pr
      • Marseille, France
        • Recruiting
        • CHU Marseille - Hôpital de la Timone
        • Contact:
          • Sabine Sigaudy, MD
      • Montpellier, France
        • Recruiting
        • CHU Montpellier
        • Contact:
          • David Genevieve, Pr
      • Nantes, France
        • Recruiting
        • CHU Nantes
        • Contact:
          • Bertrand Isidor, MD
      • Paris, France
        • Recruiting
        • Hopital Necker APHP
        • Contact:
          • Marlène Rio, MD
      • Paris, France
        • Recruiting
        • Hôpital Robert Debré APHP
        • Contact:
          • Marion Strullu, MD
      • Paris, France
        • Recruiting
        • Hôpital Trousseau APHP
        • Contact:
          • Sandra Wahlen, MD
      • Rennes, France
        • Recruiting
        • Chu Rennes
        • Contact:
          • Sylvie Odent, Pr
      • Strasbourg, France
        • Recruiting
        • CHU Strasbourg
        • Contact:
          • Elise Scheafer, MD
      • Toulouse, France
        • Recruiting
        • CHU Toulouse
        • Contact:
          • Thomas Edouard, Pr

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 11 years (Child)

Accepts Healthy Volunteers

N/A

Sampling Method

Non-Probability Sample

Study Population

Patients aged 15 years old and younger with RASopathies (Noonan syndrome and related diseases)

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Assistance Publique - Hôpitaux de Paris

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 11, 2020

Primary Completion (Estimated)

May 1, 2025

Study Completion (Estimated)

November 1, 2029

Study Registration Dates

First Submitted

January 17, 2020

First Submitted That Met QC Criteria

February 24, 2020

First Posted (Actual)

February 27, 2020

Study Record Updates

Last Update Posted (Estimated)

June 4, 2024

Last Update Submitted That Met QC Criteria

June 3, 2024

Last Verified

May 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • K171010J

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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