Clinical trial NCT03026751: Improving Diagnosis in Idiopathic Cytopenia Using Gene Sequencing
Official title: Improving Diagnosis in Idiopathic Cytopenia Using Gene Sequencing
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Cytopenia
Lead sponsor: Royal Marsden NHS Foundation Trust
Sponsor class: OTHER
First posted: 2017-01-20
Enrollment: 285
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
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.

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 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.

Eligibility criteria: 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

Primary outcomes:
measure: Percentage of patients with idiopathic cytopenia with a mutation
timeFrame: 5 years
Secondary outcomes:
Other outcomes:
Locations:
city: Sutton
country: United Kingdom
facility: The Royal Marsden NHS Foundation Trust
state: Surrey
Study officials:
affiliation: Royal Marsden NHS Foundation Trust
name: David Taussig
role: PRINCIPAL_INVESTIGATOR
References: