<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/NCT02227381</url>
  </required_header>
  <id_info>
    <org_study_id>10/H1003/98</org_study_id>
    <secondary_id>SP4555</secondary_id>
    <nct_id>NCT02227381</nct_id>
  </id_info>
  <brief_title>Action Medical Research</brief_title>
  <official_title>Using New Genetic Technology to Diagnose Neurodevelopmental Disorders</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Manchester University NHS Foundation Trust</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Manchester University NHS Foundation Trust</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      Learning disability affects 3% of the population. Severe types of learning disability are&#xD;
      more likely to have an underlying genetic cause but diagnosis is difficult because many&#xD;
      different genetic abnormalities may be involved. Obtaining a diagnosis is important so that&#xD;
      patients can be managed appropriately and their families can be given accurate information.&#xD;
&#xD;
      We aim to use new types of genetic testing which will make it possible to screen for several&#xD;
      different genetic abnormalities which cause learning disability at the same time, so&#xD;
      improving the accuracy and speed of diagnosis in the group of patients with severe learning&#xD;
      disability. We will focus particularly on patients where seizures and behavioural problems&#xD;
      are also present.This will enable more patients to be diagnosed accurately, reduce the number&#xD;
      of hospital appointments needed and ultimately be more cost- effective.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date>February 2011</start_date>
  <completion_date type="Actual">June 2015</completion_date>
  <primary_completion_date type="Actual">December 2013</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Cohort</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Genetic abnormality identified by microarray or Next Generation Sequencing</measure>
    <time_frame>up to 6 months following consent</time_frame>
    <description>Abnormalities identified upon results of testing, the normal timeframe for this is up to 6 months after collecting blood sample.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Cost effectiveness vs normal care</measure>
    <time_frame>By the end of the study (December 2014)</time_frame>
    <description>This analysis will be performed for all participants following close of recruitment &amp; follow up, and will be completed by the time the study ends.</description>
  </secondary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Actual">119</enrollment>
  <condition>Learning Disabilities</condition>
  <arm_group>
    <arm_group_label>Microarray / NGS test</arm_group_label>
  </arm_group>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      DNA extracted from whole blood, saliva or skin biopsy&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        We will approach a cohort of patients with severe LD/seizures/behaviour problems who have&#xD;
        presented to us in our genetic clinic for diagnosis over the past few years, but where the&#xD;
        cause of their problems remains unknown. This will be our study population. In virtually&#xD;
        all cases we will have performed routine diagnostic testing and will have stored DNA.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Individuals with severe learning disability associated with either seizures, movement&#xD;
             or behaviour problems who had previously undergone routine investigation but where no&#xD;
             cause had been identified for their problems&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Individuals with SLD where the cause is already known&#xD;
&#xD;
          -  Individuals where informed consent cannot be obtained for participation&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Jill Clayton Smith, MB ChB FRCP MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>CMFT</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Central Manchester University Hospitals NHS Foundation Trust</name>
      <address>
        <city>Manchester</city>
        <zip>M13 9WL</zip>
        <country>United Kingdom</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United Kingdom</country>
  </location_countries>
  <verification_date>November 2018</verification_date>
  <study_first_submitted>August 26, 2014</study_first_submitted>
  <study_first_submitted_qc>August 27, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">August 28, 2014</study_first_posted>
  <last_update_submitted>November 30, 2018</last_update_submitted>
  <last_update_submitted_qc>November 30, 2018</last_update_submitted_qc>
  <last_update_posted type="Actual">December 4, 2018</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>Learning Disabilities</mesh_term>
  </condition_browse>
  <!-- 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/NCT02227381
org study id: 10/H1003/98
secondary id: SP4555
nct id: NCT02227381
lead sponsor: 
has dmc: No
Learning disability affects 3% of the population. Severe types of learning disability are
      more likely to have an underlying genetic cause but diagnosis is difficult because many
      different genetic abnormalities may be involved. Obtaining a diagnosis is important so that
      patients can be managed appropriately and their families can be given accurate information.

      We aim to use new types of genetic testing which will make it possible to screen for several
      different genetic abnormalities which cause learning disability at the same time, so
      improving the accuracy and speed of diagnosis in the group of patients with severe learning
      disability. We will focus particularly on patients where seizures and behavioural problems
      are also present.This will enable more patients to be diagnosed accurately, reduce the number
      of hospital appointments needed and ultimately be more cost- effective.
observational model: Cohort
time perspective: Prospective
measure: Genetic abnormality identified by microarray or Next Generation Sequencing
time frame: up to 6 months following consent
description: Abnormalities identified upon results of testing, the normal timeframe for this is up to 6 months after collecting blood sample.
measure: Cost effectiveness vs normal care
time frame: By the end of the study (December 2014)
description: This analysis will be performed for all participants following close of recruitment & follow up, and will be completed by the time the study ends.
arm group label: Microarray / NGS test
DNA extracted from whole blood, saliva or skin biopsy
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
last name: Jill Clayton Smith, MB ChB FRCP MD
role: Principal Investigator
affiliation: CMFT
facility: 
country: United Kingdom
responsible party type: Sponsor
mesh term: Learning Disabilities