Hematological Anomalies in Children With Rasopathy

Status: Recruiting
Location: See all (14) locations...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Maximum Age: 15
View:

• 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

Locations
Other Locations
France
CHU Angers
RECRUITING
Angers
CHU Caen
RECRUITING
Caen
CHU Lille
RECRUITING
Lille
CHU Lyon
RECRUITING
Lyon
CHU Marseille - Hôpital de la Timone
RECRUITING
Marseille
CHU Montpellier
RECRUITING
Montpellier
CHU Nantes
RECRUITING
Nantes
Hôpital Necker APHP
RECRUITING
Paris
Hôpital Robert Debré APHP
RECRUITING
Paris
Hôpital Robert Debré APHP
RECRUITING
Paris
Hôpital Trousseau APHP
RECRUITING
Paris
CHU Rennes
RECRUITING
Rennes
CHU Strasbourg
RECRUITING
Strasbourg
CHU Toulouse
RECRUITING
Toulouse
Contact Information
Primary
Marion STRULLU, MD
marion.strullu@aphp.fr
187891611
Backup
Jérôme Lambert, MD PhD
jerome.lambert@u-paris.fr
142499742
Time Frame
Start Date: 2020-11-11
Estimated Completion Date: 2029-11
Participants
Target number of participants: 300
Sponsors
Leads: Assistance Publique - Hôpitaux de Paris

This content was sourced from clinicaltrials.gov