Hematological Anomalies in Children With Rasopathy
RAS-HEMATO
1 other identifier
observational
300
1 country
14
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Nov 2020
Longer than P75 for all trials
14 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
January 17, 2020
CompletedFirst Posted
Study publicly available on registry
February 27, 2020
CompletedStudy Start
First participant enrolled
November 11, 2020
CompletedPrimary Completion
Last participant's last visit for primary outcome
May 1, 2025
CompletedStudy Completion
Last participant's last visit for all outcomes
November 1, 2029
ExpectedJune 4, 2024
May 1, 2024
4.5 years
January 17, 2020
June 3, 2024
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Proportion of patients with hematological abnormalities
at inclusion (within 6 months after diagnosis)
Secondary Outcomes (8)
Proportion of patients with hematological abnormalities according to genetic abnormality
at inclusion (within 6 months after diagnosis)
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 age
at 1 year after inclusion
Proportion of patients with hematological abnormalities according to genetic abnormalities
at 1 year after inclusion
- +3 more secondary outcomes
Eligibility Criteria
Patients aged 15 years old and younger with RASopathies (Noonan syndrome and related diseases)
You may qualify if:
- 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
You may not qualify if:
- History of malignant hematological pathology
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (14)
CHU Angers
Angers, France
CHU Caen
Caen, France
CHU Lille
Lille, France
CHU Lyon
Lyon, France
CHU Marseille - Hôpital de la Timone
Marseille, France
CHU Montpellier
Montpellier, France
CHU Nantes
Nantes, France
Hôpital Necker APHP
Paris, France
Hôpital Robert Debré APHP
Paris, France
Hôpital Robert Debré APHP
Paris, France
Hôpital Trousseau APHP
Paris, France
CHU Rennes
Rennes, France
CHU Strasbourg
Strasbourg, France
CHU Toulouse
Toulouse, France
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
January 17, 2020
First Posted
February 27, 2020
Study Start
November 11, 2020
Primary Completion
May 1, 2025
Study Completion (Estimated)
November 1, 2029
Last Updated
June 4, 2024
Record last verified: 2024-05