NCT03026751

Improving Diagnosis in Idiopathic Cytopenia Using Gene Sequencing

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 285 (estimated)
• Sponsor: Royal Marsden NHS Foundation Trust · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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 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.

Conditions

• Cytopenia

Interventions

Type	Name	Description
PROCEDURE	Bone Marrow Aspirate	Bone marrow aspirate

Timeline

• Start date: 2017-05-05
• Primary completion: 2021-04-01
• Completion: 2021-04-01
• First posted: 2017-01-20
• Last updated: 2017-08-28

Locations

1 site across 1 country: United Kingdom