Hematological Anomalies in Children With Rasopathy

Recruiting now

Conditions studied: RAS Mutation

In brief

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.

Key facts

Study ID

NCT04286360

Run by

Assistance Publique - Hôpitaux de Paris

People needed

300

Starts

2020-11-11

Expected to finish

2029-11-01

Last updated by the study team

2024-06-04

Who can join

Age: any, up to 15. Sex: any. Healthy volunteers: not accepted.

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

Where it is running

• CHU Angers — Angers, France (enrolling)
• CHU Caen — Caen, France (enrolling)
• CHU Lille — Lille, France (enrolling)
• CHU Lyon — Lyon, France (enrolling)
• CHU Marseille - Hôpital de la Timone — Marseille, France (enrolling)
• CHU Montpellier — Montpellier, France (enrolling)
• CHU Nantes — Nantes, France (enrolling)
• Hôpital Necker APHP — Paris, France (enrolling)
• Hôpital Robert Debré APHP — Paris, France (enrolling)
• Hôpital Robert Debré APHP — Paris, France (enrolling)
• Hôpital Trousseau APHP — Paris, France (enrolling)
• CHU Rennes — Rennes, France (enrolling)
• CHU Strasbourg — Strasbourg, France (enrolling)
• CHU Toulouse — Toulouse, France (enrolling)

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.