Improving Diagnosis in Idiopathic Cytopenia Using Gene Sequencing

August 25, 2017 updated by: Royal Marsden NHS Foundation Trust

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.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Anticipated)

285

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United Kingdom
    • Surrey
      • Sutton, Surrey, United Kingdom, SM2 5PT
        • Recruiting
        • The Royal Marsden NHS Foundation Trust
        • Contact:
        • Principal Investigator:
          • David Taussig

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

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.

Description

Inclusion Criteria:

  • Signed informed consent
  • Patients >= 18 years old
  • Life expectancy more than 12 months
  • Cytopenia defined as Hb < 110g/L and/or Neutrophils <1.5 x109/L and/or Platelets <100 x109/L

Exclusion Criteria:

  • Known haematological malignancy or aplastic anaemia/paroxysmal nocturnal haemoglobinuria
  • 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).
  • Cytotoxic chemotherapy or other myelosuppressive drugs or radiotherapy within 12 months
  • Inadequate bone marrow sample for gene testing

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Percentage of patients with idiopathic cytopenia with a mutation
Time Frame: 5 years
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Royal Marsden NHS Foundation Trust

Investigators

  • Principal Investigator: David Taussig, Royal Marsden NHS Foundation Trust

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 5, 2017

Primary Completion (Anticipated)

April 1, 2021

Study Completion (Anticipated)

April 1, 2021

Study Registration Dates

First Submitted

January 18, 2017

First Submitted That Met QC Criteria

January 19, 2017

First Posted (Estimate)

January 20, 2017

Study Record Updates

Last Update Posted (Actual)

August 28, 2017

Last Update Submitted That Met QC Criteria

August 25, 2017

Last Verified

August 1, 2017

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CCR4384

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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