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RAS MutationRAS-HEMATONCT04286360

Hematological Anomalies in Children With Rasopathy

An observational study of RAS Mutation, run by Assistance Publique - Hôpitaux de Paris at 14 sites in France.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
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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. Read more about this study

Who is it for?
Ages Up to 15 years
Conditions the study is for
RAS Mutation
How many people
300 participants
Where
14 sitesFrance
Study dates
11 Nov 2020to Nov 2029
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages Up to 15 years
  • All sexes
  • Child

Study population: Patients aged 15 years old and younger with RASopathies (Noonan syndrome and related diseases)

Who may be able to join

  • 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

Who cannot join

  • History of malignant hematological pathology

Trial locations and contacts

14 sites in 1 country. Contact the study team or a site near you to ask about taking part.

Marion STRULLU, MD contact

187891611 ext. +33

marion.strullu@aphp.fr

Jérôme Lambert, MD PhD contact

142499742 ext. +33

jerome.lambert@u-paris.fr

14 sites in 1 country

France14 sites, 14 recruiting

  • CHU Angers

    Angers

    Estelle Colin, MD

    Recruiting

  • CHU Caen

    Caen

    Marion Gerard, MD

    Recruiting

  • CHU Lille

    Lille

    Anne Dieux Coeslier, MD

    Recruiting

  • CHU Lyon

    Lyon

    Charles Patrick Edery, Pr

    Recruiting

  • CHU Marseille - Hôpital de la Timone

    Marseille

    Sabine Sigaudy, MD

    Recruiting

  • CHU Montpellier

    Montpellier

    David Genevieve, Pr

    Recruiting

  • CHU Nantes

    Nantes

    Bertrand Isidor, MD

    Recruiting

  • Hôpital Necker APHP

    Paris

    Marlène Rio, MD

    Recruiting

  • Hôpital Robert Debré APHP

    Paris

    Yline Capri, MD

    Recruiting

  • Hôpital Robert Debré APHP

    Paris

    Marion Strullu, MD

    Recruiting

  • Hôpital Trousseau APHP

    Paris

    Sandra Wahlen, MD

    Recruiting

  • CHU Rennes

    Rennes

    Sylvie Odent, Pr

    Recruiting

  • CHU Strasbourg

    Strasbourg

    Elise Scheafer, MD

    Recruiting

  • CHU Toulouse

    Toulouse

    Thomas Edouard, Pr

    Recruiting

Other trials in France

About this study

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.

Conditions
RAS Mutation
Keywords
RASopathie

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Proportion of patients with hematological abnormalities

    Measured: at inclusion (within 6 months after diagnosis)

Secondary outcomes (8)

  1. Proportion of patients with hematological abnormalities according to genetic abnormality

    Measured: at inclusion (within 6 months after diagnosis)

  2. Proportion of patients with hematological abnormalities according to age

    Measured: at inclusion (within 6 months after diagnosis)

  3. Proportion of patients with hematological abnormalities

    Measured: at 1 year after inclusion

  4. Proportion of patients with hematological abnormalities according to age

    Measured: at 1 year after inclusion

  5. Proportion of patients with hematological abnormalities according to genetic abnormalities

    Measured: at 1 year after inclusion

  6. Evolution of proportion of patients with hematological abnormalities during childhood

    Measured: at 5 years post-inclusion

  7. Event-free survival

    Measured: at one year post-inclusion

  8. Event-free survival

    Measured: at 5 years post-inclusion

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted27 Feb 2020
  2. Study start11 Nov 2020
  3. Primary completionMay 2025 (estimated)
  4. Study completionNov 2029 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
300 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT04286360
Sponsor's protocol ID
K171010J
Acronym
RAS-HEMATO
Status last verified
May 2024
First submitted
17 Jan 2020
Last updated
4 Jun 2024
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
Undecided

Questions about this trial

What is this clinical trial studying?

An observational study of RAS Mutation, run by Assistance Publique - Hôpitaux de Paris at 14 sites in France.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 4 Jun 2024. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 14 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact Marion STRULLU, MD (187891611 ext. +33, marion.strullu@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Proportion of patients with hematological abnormalities (time frame: at inclusion (within 6 months after diagnosis)). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT04286360.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Jun 2024.

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