<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT03026751</url>
  </required_header>
  <id_info>
    <org_study_id>CCR4384</org_study_id>
    <nct_id>NCT03026751</nct_id>
  </id_info>
  <brief_title>Improving Diagnosis in Idiopathic Cytopenia Using Gene Sequencing</brief_title>
  <official_title>Improving Diagnosis in Idiopathic Cytopenia Using Gene Sequencing</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Royal Marsden NHS Foundation Trust</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Royal Marsden NHS Foundation Trust</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      10% of the cases referred to the specialist diagnostic haemato-pathology service at RMH are&#xD;
      for cytopenias.&#xD;
&#xD;
      The hypothesis to be tested is that a proportion of patients with idiopathic cytopenias have&#xD;
      mutations in myelodysplasic syndrome (MDS)-associated genes. The investigators will sequence&#xD;
      a panel of known MDS-associated genes in patient material (bone marrow and blood) that is&#xD;
      sent routinely to the diagnostic service where conventional techniques have failed to&#xD;
      establish a clear diagnosis. 200 patients with idiopathic cytopenia will be followed up to&#xD;
      determine their survival, blood counts and development of acute leukaemia and other&#xD;
      haematological malignancies. The clinical outcomes will be correlated with any mutations&#xD;
      detected.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Patients with cytopenias will be identified by their local District General Consultant&#xD;
      haematologist and consent obtained. A bone marrow sample will be sent to RMH as per usual&#xD;
      diagnostic pathway.&#xD;
&#xD;
      Once received at the RMH, an aliquot will be frozen down for sequencing by the Molecular&#xD;
      Pathology lab. Only those cases of cytopenia without a specific diagnosis will be the focus&#xD;
      of this study.&#xD;
&#xD;
      Results will be fed back to referring consultants with caveats regarding significance.&#xD;
&#xD;
      Patients will undergo telephone follow up and data will also be provided by local&#xD;
      consultants.&#xD;
&#xD;
      The investigators will look at overall survival, development of haematological malignancies&#xD;
      and full blood count. This will occur annually.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Recruiting</last_known_status>
  <start_date type="Actual">May 5, 2017</start_date>
  <completion_date type="Anticipated">April 2021</completion_date>
  <primary_completion_date type="Anticipated">April 2021</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Case-Only</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Percentage of patients with idiopathic cytopenia with a mutation</measure>
    <time_frame>5 years</time_frame>
  </primary_outcome>
  <enrollment type="Anticipated">285</enrollment>
  <condition>Cytopenia</condition>
  <intervention>
    <intervention_type>Procedure</intervention_type>
    <intervention_name>Bone Marrow Aspirate</intervention_name>
    <description>Bone marrow aspirate</description>
  </intervention>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Next-generation sequencing will occur looking at target genes in the marrow to identify&#xD;
      mutations.&#xD;
&#xD;
      DNA will be sequenced to allow us to determine acquired mutations in haematopoietic tissue.&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Blood and bone marrow samples are routinely sent to RMH from District General Hospitals for&#xD;
        special tests to make a diagnosis for patients with blood problems.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Signed informed consent&#xD;
&#xD;
          -  Patients &gt;= 18 years old&#xD;
&#xD;
          -  Life expectancy more than 12 months&#xD;
&#xD;
          -  Cytopenia defined as Hb &lt; 110g/L and/or Neutrophils &lt;1.5 x109/L and/or Platelets &lt;100&#xD;
             x109/L&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Known haematological malignancy or aplastic anaemia/paroxysmal nocturnal&#xD;
             haemoglobinuria&#xD;
&#xD;
          -  Cytopenia of known aetiology (after examination of blood film and other investigations&#xD;
             have occurred). These include haematinic deficiency (patients unresponsive to&#xD;
             appropriate haematinic deficiency may enter the study), autoimmune cytopenias, chronic&#xD;
             renal anaemia (for those with isolated anaemia), known haemoglobinopathy (for those&#xD;
             with isolated anaemia), chronic viral diseases (Hep B/C/HIV), cytopenias associated&#xD;
             with liver disease, cytopenias associated with systemic autoimmune conditions (eg SLE,&#xD;
             rheumatoid arthritis), anaemia of chronic disease (for those with isolated anaemia).&#xD;
&#xD;
          -  Cytotoxic chemotherapy or other myelosuppressive drugs or radiotherapy within 12&#xD;
             months&#xD;
&#xD;
          -  Inadequate bone marrow sample for gene testing&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>David Taussig</last_name>
    <role>Principal Investigator</role>
    <affiliation>Royal Marsden NHS Foundation Trust</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Leonora Conneely</last_name>
    <phone>0208 661 3018</phone>
    <email>leonora.conneely@rmh.nhs.uk</email>
  </overall_contact>
  <location>
    <facility>
      <name>The Royal Marsden NHS Foundation Trust</name>
      <address>
        <city>Sutton</city>
        <state>Surrey</state>
        <zip>SM2 5PT</zip>
        <country>United Kingdom</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Lorna Smith</last_name>
      <phone>020 8915 6187</phone>
      <email>lorna.smith2@rmh.nhs.uk</email>
    </contact>
    <investigator>
      <last_name>David Taussig</last_name>
      <role>Principal Investigator</role>
    </investigator>
  </location>
  <location_countries>
    <country>United Kingdom</country>
  </location_countries>
  <verification_date>August 2017</verification_date>
  <study_first_submitted>January 18, 2017</study_first_submitted>
  <study_first_submitted_qc>January 19, 2017</study_first_submitted_qc>
  <study_first_posted type="Estimate">January 20, 2017</study_first_posted>
  <last_update_submitted>August 25, 2017</last_update_submitted>
  <last_update_submitted_qc>August 25, 2017</last_update_submitted_qc>
  <last_update_posted type="Actual">August 28, 2017</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Anemia</mesh_term>
    <mesh_term>Leukopenia</mesh_term>
    <mesh_term>Thrombocytopenia</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
  </patient_data>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT03026751
org study id: CCR4384
nct id: NCT03026751
lead sponsor: 
has dmc: No
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.
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.
observational model: Case-Only
time perspective: Prospective
measure: Percentage of patients with idiopathic cytopenia with a mutation
time frame: 5 years
intervention type: Procedure
intervention name: Bone Marrow Aspirate
description: Bone marrow aspirate
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.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: N/A
healthy volunteers: No
last name: David Taussig
role: Principal Investigator
affiliation: Royal Marsden NHS Foundation Trust
last name: Leonora Conneely
phone: 0208 661 3018
email: leonora.conneely@rmh.nhs.uk
facility: 
status: Recruiting
contact: 
investigator: 
country: United Kingdom
responsible party type: Sponsor
mesh term: Anemia
mesh term: Leukopenia
mesh term: Thrombocytopenia
sharing ipd: No