Improving Diagnosis in Idiopathic Cytopenia Using Gene Sequencing

NCT03026751 | Unknown

• 1 other identifier: CCR4384
• Study Type: observational
• Target: 285
• Locations: 1 country
• Sites: 1

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.

Conditions

Cytopenia

Outcome Measures

Primary Outcomes (1)

• Percentage of patients with idiopathic cytopenia with a mutation

  5 years

Interventions

Bone Marrow Aspirate PROCEDURE

Bone marrow aspirate

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Royal Marsden NHS Foundation Trust: lead

Study Sites (1)

The Royal Marsden NHS Foundation Trust

Sutton, Surrey, SM2 5PT, United Kingdom

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Next-generation sequencing will occur looking at target genes in the marrow to identify mutations. DNA will be sequenced to allow us to determine acquired mutations in haematopoietic tissue.

MeSH Terms

Conditions

Cytopenia

Condition Hierarchy (Ancestors)

Hematologic Diseases; Hemic and Lymphatic Diseases

Study Officials

• David Taussig

  Royal Marsden NHS Foundation Trust

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Leonora Conneely

CONTACT

0208 661 3018; leonora.conneely@rmh.nhs.uk

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 18, 2017
• First Posted: January 20, 2017
• Study Start: May 5, 2017
• Primary Completion: April 1, 2021
• Study Completion: April 1, 2021
• Last Updated: August 28, 2017

Record last verified: 2017-08

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)