Hematological Anomalies in Children With Rasopathy

RAS Mutation Clinical Trial

— RAS-HEMATO  

Official title:

Hematological Anomalies in Children With Rasopathy

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04286360
• Other study ID #: K171010J
• Status: Recruiting
• Start date: November 11, 2020
• Est. completion date: November 2029

Study information

• Verified date: May 2024
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: Marion STRULLU, MD
• Phone: 187891611
• Email: marion.strullu[@]aphp.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 300
• Est. completion date: November 2029
• Est. primary completion date: May 2025
• Gender: All
• Age group: N/A to 15 Years

Eligibility

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

Related Conditions & MeSH terms

• Congenital Abnormalities
• RAS Mutation

Locations

Country	Name	City	State
France	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

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Proportion of patients with hematological abnormalities		at inclusion (within 6 months after diagnosis)
Secondary	Proportion of patients with hematological abnormalities according to genetic abnormality		at inclusion (within 6 months after diagnosis)
Secondary	Proportion of patients with hematological abnormalities according to age		at inclusion (within 6 months after diagnosis)
Secondary	Proportion of patients with hematological abnormalities		at 1 year after inclusion
Secondary	Proportion of patients with hematological abnormalities according to age		at 1 year after inclusion
Secondary	Proportion of patients with hematological abnormalities according to genetic abnormalities		at 1 year after inclusion
Secondary	Evolution of proportion of patients with hematological abnormalities during childhood		at 5 years post-inclusion
Secondary	Event-free survival		at one year post-inclusion
Secondary	Event-free survival		at 5 years post-inclusion