ClinicalTrials.gg
Status unknownNCT03026751Updated Aug 28, 2017

Improving Diagnosis in Idiopathic Cytopenia Using Gene Sequencing

An observational study in Cytopenia, sponsored by Royal Marsden NHS Foundation Trust. Status unknown at 1 site in United Kingdom. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2017-08-28.

Sponsored by Royal Marsden NHS Foundation Trust · Observational

The sponsor has not verified this record recently (last verified Aug 2017), so the status shown — last known as Recruiting — may be out of date.
Study type
Observational
Model
Case-only
Time perspective
Prospective
Enrollment
285
Ages
18 Years and older
Sex
All
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Study 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.

Read the 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.

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Conditions studied

  • Cytopenia

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03

In context

Cytopenia

87 studies on the registry are indexed under Cytopenia; 24 are open to participants now.

This study's planned enrollment of 285 is above the median of 200 across 20 observational studies indexed under Cytopenia.

Browse Cytopenia studies →

Lead sponsor

Royal Marsden NHS Foundation Trust is the lead sponsor of 272 studies on the registry; 52 are open to participants now.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Accepts healthy volunteers
No
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.

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

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

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
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Study design

Observational model
Case-only
Time perspective
Prospective
Enrollment
285 participants (estimated)
Patient registry
No
Biospecimen retention
Samples with dna

Interventions

  • ProcedureBone Marrow Aspirate

    Bone marrow aspirate

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What researchers measure

Primary outcomes

  1. Percentage of patients with idiopathic cytopenia with a mutation

    Time frame: 5 years

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Study locations

1 of 1 sites recruiting
  • The Royal Marsden NHS Foundation Trust
    Sutton, Surrey SM2 5PT, United Kingdom
    Recruiting
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References and documents

Publications

  • Pietka G, De Lord C, Matthias G, Cheung B, Atwal S, Furtado M, Cullis J, Grey-Davies L, Narayanan S, McGregor A, Kilner M, Bosworth J, McMullin MF, Coats T, Parcharidou A, Cavenagh J, Byrne J, Iyengar S, Mohammed K, Cross N, Hubank M, Ribeiro S, Khorashad J, Wren D, O'Connor S, Taussig D. Capture-based targeted sequencing using a T-cell control in myeloid malignancies and idiopathic cytopenias. Br J Haematol. 2024 Apr;204(4):1325-1334. doi: 10.1111/bjh.19377. Epub 2024 Mar 11. PubMed 38462984 ↗

Individual participant data

Plan to share: No

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Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reached

Started May 2017 (actual). Primary completion is estimated for Apr 2021, 47 months after the start.

How these figures are worked out, and which studies are left out of them.

Registered
Jan 18, 2017
First posted
Jan 20, 2017
StartActual
May 5, 2017
Primary completionEst.
Apr 2021
CompletionEst.
Apr 2021
Last update
Aug 28, 2017
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Aug 28, 2017, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT03026751
Responsible party
Sponsor
First posted
Jan 20, 2017
Start date
May 5, 2017
Primary completion
Apr 2021 (estimated)
Completion
Apr 2021 (estimated)
Last update
Aug 28, 2017

Study contacts

Leonora Conneely
Contact
leonora.conneely@rmh.nhs.uk
0208 661 3018
David Taussig
principal investigator · Royal Marsden NHS Foundation Trust

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is status unknown, as verified in Aug 2017. You cannot join it, but the record below documents what was studied.

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