Clinical Trial: Improving Diagnosis in Idiopathic Cytopenia Using Gene Sequencing
Study Status: Not yet recruiting
Recruit Status: Not yet recruiting
Study Type: Observational
Official Title: Improving Diagnosis in Idiopathic Cytopenia Using Gene Sequencing
Brief Summary:
10% of the cases referred to the specialist diagnostic haemato-pathology service at RMH are for cytopenias.
The 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.
Detailed Summary:
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.
Once 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.
Results will be fed back to referring consultants with caveats regarding significance.
Patients will undergo telephone follow up and data will also be provided by local consultants.
The investigators will look at overall survival, development of haematological malignancies and full blood count. This will occur annually.
Sponsor: Royal Marsden NHS Foundation Trust
Current Primary Outcome: Percentage of patients with idiopathic cytopenia with a mutation [ Time Frame: 5 years ]
Original Primary Outcome: Same as current
Current Secondary Outcome:
Original Secondary Outcome:
Information By: Royal Marsden NHS Foundation Trust
Dates:
Date Received: January 18, 2017
Date Started: January 2017
Date Completion: April 2021
Last Updated: January 26, 2017
Last Verified: January 2017
