Improving Diagnosis in Idiopathic Cytopenia Using Gene Sequencing

Status Recruiting

Clinical Trial 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.

Clinical Trial Description

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. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT03026751
Study type	Observational
Source	Royal Marsden NHS Foundation Trust
Contact	Leonora Conneely
Phone	0208 661 3018
Email	leonora.conneely@rmh.nhs.uk
Status	Recruiting
Phase	N/A
Start date	May 5, 2017
Completion date	April 2021

View Details

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