Informations générales (source: ClinicalTrials.gov)
Hematological Anomalies in Children With Rasopathy
Observational
Assistance Publique - Hôpitaux de Paris (Voir sur ClinicalTrials)
novembre 2020
novembre 2029
12 septembre 2025
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.
Etablissements
| Les établissements d'Île-de-France ayant mis à jour leurs données Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| AP-HP Assistance publique - Hôpitaux de Paris | 13/12/2025 07:43:42 | Contacter | |||
| AP-HP - Hôpital Armand Trousseau-La Roche Guyon | |||||
| AP-HP - Hôpital Necker-Enfants Malades | |||||
| AP-HP - Hôpital Robert Debré | |||||
| Les établissements sans correspondance certaine dans le répertoire FINESS dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
| CHU Angers - Angers - France | Estelle Colin, MD | Contact (sur clinicalTrials) | |||
| CHU Caen - Caen - France | Marion Gerard, MD | Contact (sur clinicalTrials) | |||
| CHU Lille - Lille - France | Anne Dieux Coeslier, MD | Contact (sur clinicalTrials) | |||
| CHU Lyon - Lyon - France | Charles Patrick Edery, Pr | Contact (sur clinicalTrials) | |||
| CHU Marseille - Hôpital de la Timone - Marseille - France | Sabine Sigaudy, MD | Contact (sur clinicalTrials) | |||
| CHU Montpellier - Montpellier - France | David Genevieve, Pr | Contact (sur clinicalTrials) | |||
| CHU Nantes - Nantes - France | Bertrand Isidor, MD | Contact (sur clinicalTrials) | |||
| CHU Rennes - Rennes - France | Sylvie Odent, Pr | Contact (sur clinicalTrials) | |||
| CHU Strasbourg - Strasbourg - France | Elise Scheafer, MD | Contact (sur clinicalTrials) | |||
| CHU Toulouse - Toulouse - France | Thomas Edouard, Pr | Contact (sur clinicalTrials) | |||
| Hôpital Robert Debré APHP - Paris - France | Marion Strullu, MD | Contact (sur clinicalTrials) | |||
Critères
Tous
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
- 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
- History of malignant hematological pathology