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Hematological Anomalies in Children With Rasopathy (RAS-HEMATO)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04286360
Recruitment Status : Not yet recruiting
First Posted : February 27, 2020
Last Update Posted : August 18, 2020
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

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.


Condition or disease
RAS Mutation

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Study Type : Observational
Estimated Enrollment : 300 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Hematological Anomalies in Children With Rasopathy
Estimated Study Start Date : September 2020
Estimated Primary Completion Date : September 2024
Estimated Study Completion Date : September 2029



Primary Outcome Measures :
  1. Proportion of patients with hematological abnormalities [ Time Frame: at inclusion (within 6 months after diagnosis) ]

Secondary Outcome Measures :
  1. Proportion of patients with hematological abnormalities according to genetic abnormality [ Time Frame: at inclusion (within 6 months after diagnosis) ]
  2. Proportion of patients with hematological abnormalities according to age [ Time Frame: at inclusion (within 6 months after diagnosis) ]
  3. Proportion of patients with hematological abnormalities [ Time Frame: at 1 year after inclusion ]
  4. Proportion of patients with hematological abnormalities according to age [ Time Frame: at 1 year after inclusion ]
  5. Proportion of patients with hematological abnormalities according to genetic abnormalities [ Time Frame: at 1 year after inclusion ]
  6. Evolution of proportion of patients with hematological abnormalities during childhood [ Time Frame: at 5 years post-inclusion ]
  7. Event-free survival [ Time Frame: at one year post-inclusion ]
  8. Event-free survival [ Time Frame: at 5 years post-inclusion ]


Information from the National Library of Medicine

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Ages Eligible for Study:   up to 15 Years   (Child)
Sexes Eligible for Study:   All
Sampling Method:   Non-Probability Sample
Study Population
Patients aged 15 years old and younger with RASopathies (Noonan syndrome and related diseases)
Criteria

Inclusion Criteria:

  • Age < 16 years
  • Patient with genetically confirmed 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04286360


Contacts
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Contact: Marion STRULLU +330187891611 marion.strullu@aphp.fr
Contact: Matthieu RESCHE-RIGON 0142499742 ext 0142499742 matthieu.resche-rigon@univ-paris-diderot.fr

Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
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Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT04286360    
Other Study ID Numbers: K171010J
First Posted: February 27, 2020    Key Record Dates
Last Update Posted: August 18, 2020
Last Verified: February 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Assistance Publique - Hôpitaux de Paris:
RASopathie
Additional relevant MeSH terms:
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Congenital Abnormalities