<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/NCT04495218</url>
  </required_header>
  <id_info>
    <org_study_id>CHUBX 2019/52</org_study_id>
    <nct_id>NCT04495218</nct_id>
  </id_info>
  <brief_title>NGS Panel of Incomplete Forms of Ocular Albinism</brief_title>
  <acronym>DIA</acronym>
  <official_title>Implementation of a Next-generation Sequencing Analysis of a Panel of Genes Implicated in Incomplete Forms of Albinism</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University Hospital, Bordeaux</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University Hospital, Bordeaux</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      Implementation of a next-generation sequencing panel of genes to identify deleterious&#xD;
      variants in patients with incomplete forms of albinism.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Scientific context : Albinism is clinically characterised by cutaneous hypopigmentation and&#xD;
      ophthalmologic features. These features common to all forms of albinism are foveal&#xD;
      hypoplasia, misrouting of the optic nerves at the chiasm, retinal hypopigmentation,&#xD;
      translucent irides and nystagmus. The molecular genetic lab at Bordeaux University Hospital&#xD;
      is the national reference for the study of this disease. More than 1400 patients have been&#xD;
      analyzed with a strategy including next-generation sequencing of the 19 known genes of&#xD;
      albinism and array-CGH. Despite this thorough analysis, 25% of patients remain without&#xD;
      molecular diagnosis. Our experience tells us that these patients often show an incomplete&#xD;
      form of albinism with the presence of only few ophthalmologic signs. The molecular diagnosis&#xD;
      is very challenging as the phenotype often overlaps with other ophthalmologic disorders.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">November 23, 2020</start_date>
  <completion_date type="Anticipated">June 2024</completion_date>
  <primary_completion_date type="Anticipated">June 2024</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 for whom a molecular diagnosis is obtained based on the panel of targeted genes</measure>
    <time_frame>Enrollment</time_frame>
    <description>the prevalence of finding at least two pathogenic variants is 10%.</description>
  </primary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Anticipated">100</enrollment>
  <condition>Albinism, Ocular</condition>
  <arm_group>
    <arm_group_label>Patient with a diagnosis of incomplete form of albinism</arm_group_label>
  </arm_group>
  <intervention>
    <intervention_type>Biological</intervention_type>
    <intervention_name>Blood samples</intervention_name>
    <description>Performed a 10 ml blood sample (2 unnamed samples of 5ml) in each of the 100 patients included.</description>
    <arm_group_label>Patient with a diagnosis of incomplete form of albinism</arm_group_label>
  </intervention>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      whole blood sample&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Patient with a clinical diagnosis of incomplete form of albinism with presence of at least&#xD;
        2 signs of ocular albinism among which nystagmus, low vision, foveal hypoplasia, retinal&#xD;
        hypopigmentation, translucent irides, misrouting of the optic nerves at the chiasm and&#xD;
        having a specialized consultation in CHU de Bordeaux&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Minor and adult patient.&#xD;
&#xD;
          -  Patient presenting a clinical diagnosis of incomplete form of albinism with presence&#xD;
             of at least 2 signs of ocular albinism among which nystagmus, low vision, foveal&#xD;
             hypoplasia, retinal hypopigmentation, translucent irides, misrouting of the optic&#xD;
             nerves at the chiasm.&#xD;
&#xD;
          -  Registered for the social security system.&#xD;
&#xD;
          -  Informed consent signed by patient or parent of a minor patient.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Refusal to participate in research protocol.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>0 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_contact>
    <last_name>Vincent MICHAUD, Dr</last_name>
    <phone>0557820353</phone>
    <email>vincent.michaud@chu-bordeaux.fr</email>
  </overall_contact>
  <location>
    <facility>
      <name>Centre Hospitalier Universitaire de Bordeaux</name>
      <address>
        <city>Bordeaux</city>
        <country>France</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Vincent Michaud, Dr</last_name>
      <phone>0557820353</phone>
      <email>vincent.michaud@chu-bordeaux.fr</email>
    </contact>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>June 2023</verification_date>
  <study_first_submitted>July 20, 2020</study_first_submitted>
  <study_first_submitted_qc>July 28, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">July 31, 2020</study_first_posted>
  <last_update_submitted>June 14, 2023</last_update_submitted>
  <last_update_submitted_qc>June 14, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">June 15, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Next generation sequencing</keyword>
  <keyword>Albinism</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Albinism</mesh_term>
    <mesh_term>Albinism, Ocular</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/NCT04495218
org study id: CHUBX 2019/52
nct id: NCT04495218
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
Implementation of a next-generation sequencing panel of genes to identify deleterious
      variants in patients with incomplete forms of albinism.
Scientific context : Albinism is clinically characterised by cutaneous hypopigmentation and
      ophthalmologic features. These features common to all forms of albinism are foveal
      hypoplasia, misrouting of the optic nerves at the chiasm, retinal hypopigmentation,
      translucent irides and nystagmus. The molecular genetic lab at Bordeaux University Hospital
      is the national reference for the study of this disease. More than 1400 patients have been
      analyzed with a strategy including next-generation sequencing of the 19 known genes of
      albinism and array-CGH. Despite this thorough analysis, 25% of patients remain without
      molecular diagnosis. Our experience tells us that these patients often show an incomplete
      form of albinism with the presence of only few ophthalmologic signs. The molecular diagnosis
      is very challenging as the phenotype often overlaps with other ophthalmologic disorders.
observational model: Case-Only
time perspective: Prospective
measure: Percentage of patients for whom a molecular diagnosis is obtained based on the panel of targeted genes
time frame: Enrollment
description: the prevalence of finding at least two pathogenic variants is 10%.
arm group label: Patient with a diagnosis of incomplete form of albinism
intervention type: Biological
intervention name: Blood samples
description: Performed a 10 ml blood sample (2 unnamed samples of 5ml) in each of the 100 patients included.
arm group label: Patient with a diagnosis of incomplete form of albinism
whole blood sample
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 0 Years
maximum age: N/A
healthy volunteers: No
last name: Vincent MICHAUD, Dr
phone: 0557820353
email: vincent.michaud@chu-bordeaux.fr
facility: 
status: Recruiting
contact: 
country: France
responsible party type: Sponsor
mesh term: Albinism
mesh term: Albinism, Ocular