Ignite Creation Date:
2025-12-24 @ 11:44 PM
Ignite Modification Date:
2026-02-22 @ 4:14 AM
Study NCT ID:
NCT03026751
Status:
UNKNOWN
Last Update Posted:
2017-08-28
First Post:
2017-01-18
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Improving Diagnosis in Idiopathic Cytopenia Using Gene Sequencing
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000095542', 'term': 'Cytopenia'}], 'ancestors': [{'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Next-generation sequencing will occur looking at target genes in the marrow to identify mutations.\n\nDNA will be sequenced to allow us to determine acquired mutations in haematopoietic tissue.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 285}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2017-05-05', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2017-08', 'completionDateStruct': {'date': '2021-04', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2017-08-25', 'studyFirstSubmitDate': '2017-01-18', 'studyFirstSubmitQcDate': '2017-01-19', 'lastUpdatePostDateStruct': {'date': '2017-08-28', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2017-01-20', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2021-04', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Percentage of patients with idiopathic cytopenia with a mutation', 'timeFrame': '5 years'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'conditions': ['Cytopenia']}, 'descriptionModule': {'briefSummary': '10% of the cases referred to the specialist diagnostic haemato-pathology service at RMH are for cytopenias.\n\nThe hypothesis to be tested is that a proportion of patients with idiopathic cytopenias have mutations in myelodysplasic syndrome (MDS)-associated genes. The investigators will sequence a panel of known MDS-associated genes in patient material (bone marrow and blood) that is sent routinely to the diagnostic service where conventional techniques have failed to establish a clear diagnosis. 200 patients with idiopathic cytopenia will be followed up to determine their survival, blood counts and development of acute leukaemia and other haematological malignancies. The clinical outcomes will be correlated with any mutations detected.', 'detailedDescription': 'Patients with cytopenias will be identified by their local District General Consultant haematologist and consent obtained. A bone marrow sample will be sent to RMH as per usual diagnostic pathway.\n\nOnce received at the RMH, an aliquot will be frozen down for sequencing by the Molecular Pathology lab. Only those cases of cytopenia without a specific diagnosis will be the focus of this study.\n\nResults will be fed back to referring consultants with caveats regarding significance.\n\nPatients will undergo telephone follow up and data will also be provided by local consultants.\n\nThe investigators will look at overall survival, development of haematological malignancies and full blood count. This will occur annually.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Blood and bone marrow samples are routinely sent to RMH from District General Hospitals for special tests to make a diagnosis for patients with blood problems.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Signed informed consent\n* Patients \\>= 18 years old\n* Life expectancy more than 12 months\n* Cytopenia defined as Hb \\< 110g/L and/or Neutrophils \\<1.5 x109/L and/or Platelets \\<100 x109/L\n\nExclusion Criteria:\n\n* Known haematological malignancy or aplastic anaemia/paroxysmal nocturnal haemoglobinuria\n* Cytopenia of known aetiology (after examination of blood film and other investigations have occurred). These include haematinic deficiency (patients unresponsive to appropriate haematinic deficiency may enter the study), autoimmune cytopenias, chronic renal anaemia (for those with isolated anaemia), known haemoglobinopathy (for those with isolated anaemia), chronic viral diseases (Hep B/C/HIV), cytopenias associated with liver disease, cytopenias associated with systemic autoimmune conditions (eg SLE, rheumatoid arthritis), anaemia of chronic disease (for those with isolated anaemia).\n* Cytotoxic chemotherapy or other myelosuppressive drugs or radiotherapy within 12 months\n* Inadequate bone marrow sample for gene testing'}, 'identificationModule': {'nctId': 'NCT03026751', 'briefTitle': 'Improving Diagnosis in Idiopathic Cytopenia Using Gene Sequencing', 'organization': {'class': 'OTHER', 'fullName': 'Royal Marsden NHS Foundation Trust'}, 'officialTitle': 'Improving Diagnosis in Idiopathic Cytopenia Using Gene Sequencing', 'orgStudyIdInfo': {'id': 'CCR4384'}}, 'armsInterventionsModule': {'interventions': [{'name': 'Bone Marrow Aspirate', 'type': 'PROCEDURE', 'description': 'Bone marrow aspirate'}]}, 'contactsLocationsModule': {'locations': [{'zip': 'SM2 5PT', 'city': 'Sutton', 'state': 'Surrey', 'status': 'RECRUITING', 'country': 'United Kingdom', 'contacts': [{'name': 'Lorna Smith', 'role': 'CONTACT', 'email': 'lorna.smith2@rmh.nhs.uk', 'phone': '020 8915 6187'}, {'name': 'David Taussig', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'The Royal Marsden NHS Foundation Trust', 'geoPoint': {'lat': 51.35, 'lon': -0.2}}], 'centralContacts': [{'name': 'Leonora Conneely', 'role': 'CONTACT', 'email': 'leonora.conneely@rmh.nhs.uk', 'phone': '0208 661 3018'}], 'overallOfficials': [{'name': 'David Taussig', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Royal Marsden NHS Foundation Trust'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Royal Marsden NHS Foundation Trust', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}