Ignite Creation Date:
2025-12-25 @ 2:11 AM
Ignite Modification Date:
2025-12-30 @ 10:43 AM
Study NCT ID:
NCT04286360
Status:
RECRUITING
Last Update Posted:
2024-06-04
First Post:
2020-01-17
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Hematological Anomalies in Children With Rasopathy
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 300}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2020-11-11', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-05', 'completionDateStruct': {'date': '2029-11', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2024-06-03', 'studyFirstSubmitDate': '2020-01-17', 'studyFirstSubmitQcDate': '2020-02-24', 'lastUpdatePostDateStruct': {'date': '2024-06-04', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2020-02-27', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2025-05', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Proportion of patients with hematological abnormalities', 'timeFrame': 'at inclusion (within 6 months after diagnosis)'}], 'secondaryOutcomes': [{'measure': 'Proportion of patients with hematological abnormalities according to genetic abnormality', 'timeFrame': 'at inclusion (within 6 months after diagnosis)'}, {'measure': 'Proportion of patients with hematological abnormalities according to age', 'timeFrame': 'at inclusion (within 6 months after diagnosis)'}, {'measure': 'Proportion of patients with hematological abnormalities', 'timeFrame': 'at 1 year after inclusion'}, {'measure': 'Proportion of patients with hematological abnormalities according to age', 'timeFrame': 'at 1 year after inclusion'}, {'measure': 'Proportion of patients with hematological abnormalities according to genetic abnormalities', 'timeFrame': 'at 1 year after inclusion'}, {'measure': 'Evolution of proportion of patients with hematological abnormalities during childhood', 'timeFrame': 'at 5 years post-inclusion'}, {'measure': 'Event-free survival', 'timeFrame': 'at one year post-inclusion'}, {'measure': 'Event-free survival', 'timeFrame': 'at 5 years post-inclusion'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['RASopathie'], 'conditions': ['RAS Mutation']}, 'descriptionModule': {'briefSummary': '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.\n\nIn 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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD'], 'maximumAge': '15 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients aged 15 years old and younger with RASopathies (Noonan syndrome and related diseases)', 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Age \\< 16 years\n* 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\n* No history of hematological malignancy\n* Written informed consent obtained from the parents\n* Health insurance\n\nExclusion Criteria:\n\n* History of malignant hematological pathology'}, 'identificationModule': {'nctId': 'NCT04286360', 'acronym': 'RAS-HEMATO', 'briefTitle': 'Hematological Anomalies in Children With Rasopathy', 'organization': {'class': 'OTHER', 'fullName': 'Assistance Publique - Hôpitaux de Paris'}, 'officialTitle': 'Hematological Anomalies in Children With Rasopathy', 'orgStudyIdInfo': {'id': 'K171010J'}}, 'contactsLocationsModule': {'locations': [{'city': 'Angers', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Estelle Colin, MD', 'role': 'CONTACT'}], 'facility': 'CHU Angers', 'geoPoint': {'lat': 47.47156, 'lon': -0.55202}}, {'city': 'Caen', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Marion Gerard, MD', 'role': 'CONTACT'}], 'facility': 'CHU Caen', 'geoPoint': {'lat': 49.18585, 'lon': -0.35912}}, {'city': 'Lille', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Anne Dieux Coeslier, MD', 'role': 'CONTACT'}], 'facility': 'CHU Lille', 'geoPoint': {'lat': 50.63391, 'lon': 3.05512}}, {'city': 'Lyon', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Charles Patrick Edery, Pr', 'role': 'CONTACT'}], 'facility': 'CHU Lyon', 'geoPoint': {'lat': 45.74906, 'lon': 4.84789}}, {'city': 'Marseille', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Sabine Sigaudy, MD', 'role': 'CONTACT'}], 'facility': 'CHU Marseille - Hôpital de la Timone', 'geoPoint': {'lat': 43.29695, 'lon': 5.38107}}, {'city': 'Montpellier', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'David Genevieve, Pr', 'role': 'CONTACT'}], 'facility': 'CHU Montpellier', 'geoPoint': {'lat': 43.61093, 'lon': 3.87635}}, {'city': 'Nantes', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Bertrand Isidor, MD', 'role': 'CONTACT'}], 'facility': 'CHU Nantes', 'geoPoint': {'lat': 47.21725, 'lon': -1.55336}}, {'city': 'Paris', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Marlène Rio, MD', 'role': 'CONTACT'}], 'facility': 'Hôpital Necker APHP', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'city': 'Paris', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Yline Capri, MD', 'role': 'CONTACT'}], 'facility': 'Hôpital Robert Debré APHP', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'city': 'Paris', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Marion Strullu, MD', 'role': 'CONTACT'}], 'facility': 'Hôpital Robert Debré APHP', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'city': 'Paris', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Sandra Wahlen, MD', 'role': 'CONTACT'}], 'facility': 'Hôpital Trousseau APHP', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'city': 'Rennes', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Sylvie Odent, Pr', 'role': 'CONTACT'}], 'facility': 'CHU Rennes', 'geoPoint': {'lat': 48.11109, 'lon': -1.67431}}, {'city': 'Strasbourg', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Elise Scheafer, MD', 'role': 'CONTACT'}], 'facility': 'CHU Strasbourg', 'geoPoint': {'lat': 48.58392, 'lon': 7.74553}}, {'city': 'Toulouse', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Thomas Edouard, Pr', 'role': 'CONTACT'}], 'facility': 'CHU Toulouse', 'geoPoint': {'lat': 43.60426, 'lon': 1.44367}}], 'centralContacts': [{'name': 'Marion STRULLU, MD', 'role': 'CONTACT', 'email': 'marion.strullu@aphp.fr', 'phone': '187891611', 'phoneExt': '+33'}, {'name': 'Jérôme Lambert, MD PhD', 'role': 'CONTACT', 'email': 'jerome.lambert@u-paris.fr', 'phone': '142499742', 'phoneExt': '+33'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Assistance Publique - Hôpitaux de Paris', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}