<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/NCT02970266</url>
  </required_header>
  <id_info>
    <org_study_id>P081257</org_study_id>
    <nct_id>NCT02970266</nct_id>
  </id_info>
  <brief_title>Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families.</brief_title>
  <acronym>GENPHENACL</acronym>
  <official_title>Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families: Establishment of Genotype-phenotype Correlations and Updating the Clinical Definition of This Retinal Dystrophy</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Assistance Publique - Hôpitaux de Paris</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Assistance Publique - Hôpitaux de Paris</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      The main objectives of this study are:&#xD;
&#xD;
        1. Improve genetic counseling by establishment of prevalences of each of genetic subtypes&#xD;
           within a expanded population of patients with LCA taking into account ethnicity of&#xD;
           families.&#xD;
&#xD;
        2. Confirm, refine or modify the genotype-phenotype correlations.&#xD;
&#xD;
        3. Edit important recommendations for:&#xD;
&#xD;
             -  The clinical and paraclinical exploration of a new patient based on genotype,&#xD;
                especially for extraocular explorations, to book at certain genetic subtypes&#xD;
&#xD;
             -  Prenatal care of a couple.&#xD;
&#xD;
             -  Directing families to a therapeutic protocol in progress or in development.&#xD;
&#xD;
        4. Individualize a panel of families without a mutation in the known genes and identify new&#xD;
           genes responsible.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      This study characterize the clinical history of the disease (age and start mode of visual&#xD;
      disturbances, rate and mode of progress of disease), careful assessment of retina function&#xD;
      and finally, in search of the mutations responsible for this condition.&#xD;
&#xD;
      A full ophthalmic check-up, one at the inclusion and 24 months :&#xD;
&#xD;
        1. - A genetic consultation taking account of family history and establishment of family&#xD;
           tree with precision of geographical origin of birth of ascendants.&#xD;
&#xD;
        2. - A thorough ophthalmologic examination by a referring medical ophthalmologist,&#xD;
           including:&#xD;
&#xD;
           2.1 - An interrogation on the development of the visual awakening since the birth and&#xD;
           its possible disturbances.&#xD;
&#xD;
           2.2 - The search for abnormal movements of the eyeballs, and difficulties with regard to&#xD;
           different lighting.&#xD;
&#xD;
           2.3 - Visual field evaluation Survey.&#xD;
&#xD;
           2.4 - The study of color vision.&#xD;
&#xD;
           2.5 - The search for a refractive disorder with the automatic refractometer.&#xD;
&#xD;
           2.6 - Measurement of Visual acuity for near and distance.&#xD;
&#xD;
           2.7 - Examination of the eyeball as a whole, examination of the anterior chamber of the&#xD;
           eye by the slit lamp.&#xD;
&#xD;
           2.8 - Taking pictures of the fundus of the eye after pupillary dilation.&#xD;
&#xD;
           2.9 - An autofluorescence search using a Scanning Laser Ophthalmoscopy (SLO).&#xD;
&#xD;
           2.10 - Optical Coherence Tomography (OCT) which used to assess the thickness of each of&#xD;
           retinal layers.&#xD;
&#xD;
           2.11 - Electrophysiological examination, Electroretinogram (ERG) that allows to record&#xD;
           the functional value of the retina.&#xD;
&#xD;
           These two latter examinations last on average 10 minutes after dilation of the pupil.&#xD;
&#xD;
        3. - A blood sample of 10 milliliters to carry out genetic studies to identify the gene&#xD;
           responsible for this condition and genetic counseling refined by taking account the&#xD;
           results of this study.&#xD;
&#xD;
      Intermediate visit M12: only for patients younger than 6 years of age on inclusion.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date>September 2010</start_date>
  <completion_date type="Actual">November 2016</completion_date>
  <primary_completion_date type="Actual">September 2015</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>Retrospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Improve genetic counseling by establishment of prevalences of each of genetic subtypes within a expanded population of patients with LCA.</measure>
    <time_frame>24 MONTHS</time_frame>
  </primary_outcome>
  <secondary_outcome>
    <measure>Measurement of visual acuity using the logarithmic scale for children under 5</measure>
    <time_frame>24 MONTHS</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Measurement of visual acuity using Early Treatment Diabetic Retinopathy Study scale (ETDRS) for far vision</measure>
    <time_frame>24 MONTHS</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>The &quot;Parinaud Scale&quot; for near vision (After the age of 6)</measure>
    <time_frame>24 MONTHS</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Visual field evaluation Survey</measure>
    <time_frame>24 MONTHS</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Measurement of refraction by portable automatic refractometer.</measure>
    <time_frame>24 MONTHS</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Screening for color vision abnormalities using &quot;children's boards&quot; of &quot;Ishihara Test&quot; from the age of 3-4.</measure>
    <time_frame>24 MONTHS</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Screening for color vision abnormalities using &quot;regular boards&quot; as soon as learning to read figures from the age of five.</measure>
    <time_frame>24 MONTHS</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Test the color vision deficiency using the &quot; Farnsworth test&quot; in adults and children after the age of 6.</measure>
    <time_frame>24 MONTHS</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>The visual field test using the Goldman dome in adults and children aged 6 to 7.</measure>
    <time_frame>24 MONTHS</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Electrophysiological examination using Electroretinogram.</measure>
    <time_frame>24 MONTHS</time_frame>
  </secondary_outcome>
  <enrollment type="Actual">659</enrollment>
  <condition>Leber Congenital Amaurosis</condition>
  <eligibility>
    <study_pop>
      <textblock>
        Patients with Leber Congenital Amaurosis (LCA) taking into account Ethnicity of families.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
        Patients:&#xD;
&#xD;
          -  Patients of all ages&#xD;
&#xD;
          -  Patients with symptoms the day of the first consultation allowing to ask the diagnosis&#xD;
             of leber congenital amaurosis.&#xD;
&#xD;
          -  Are affiliated to a social health care.&#xD;
&#xD;
          -  Written informed consent must be given by patients or holders parental authority for&#xD;
             minors.&#xD;
&#xD;
        patients and siblings:&#xD;
&#xD;
          -  Signed consent for molecular study by the participant or by holders parental authority&#xD;
             for minors.&#xD;
&#xD;
          -  Are affiliated to a social health care.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Patients whose exploration has laid differential diagnoses.&#xD;
&#xD;
          -  Patients refusing the visits provided for in Protocol.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Josseline KAPLAN, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Necker-Enfants Malades Hospital, 75015 Paris. France</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Necker-Enfants Malades Hospital</name>
      <address>
        <city>Paris</city>
        <zip>75015</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>November 2016</verification_date>
  <study_first_submitted>November 17, 2016</study_first_submitted>
  <study_first_submitted_qc>November 18, 2016</study_first_submitted_qc>
  <study_first_posted type="Estimate">November 21, 2016</study_first_posted>
  <last_update_submitted>November 18, 2016</last_update_submitted>
  <last_update_submitted_qc>November 18, 2016</last_update_submitted_qc>
  <last_update_posted type="Estimate">November 21, 2016</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Leber Congenital Amaurosis</keyword>
  <keyword>Genetic Decryption</keyword>
  <keyword>The genotype-phenotype correlations</keyword>
  <keyword>Ethnicity families</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Blindness</mesh_term>
    <mesh_term>Leber Congenital Amaurosis</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/NCT02970266
org study id: P081257
nct id: NCT02970266
lead sponsor: 
has dmc: No
The main objectives of this study are:

        1. Improve genetic counseling by establishment of prevalences of each of genetic subtypes
           within a expanded population of patients with LCA taking into account ethnicity of
           families.

        2. Confirm, refine or modify the genotype-phenotype correlations.

        3. Edit important recommendations for:

             -  The clinical and paraclinical exploration of a new patient based on genotype,
                especially for extraocular explorations, to book at certain genetic subtypes

             -  Prenatal care of a couple.

             -  Directing families to a therapeutic protocol in progress or in development.

        4. Individualize a panel of families without a mutation in the known genes and identify new
           genes responsible.
This study characterize the clinical history of the disease (age and start mode of visual
      disturbances, rate and mode of progress of disease), careful assessment of retina function
      and finally, in search of the mutations responsible for this condition.

      A full ophthalmic check-up, one at the inclusion and 24 months :

        1. - A genetic consultation taking account of family history and establishment of family
           tree with precision of geographical origin of birth of ascendants.

        2. - A thorough ophthalmologic examination by a referring medical ophthalmologist,
           including:

           2.1 - An interrogation on the development of the visual awakening since the birth and
           its possible disturbances.

           2.2 - The search for abnormal movements of the eyeballs, and difficulties with regard to
           different lighting.

           2.3 - Visual field evaluation Survey.

           2.4 - The study of color vision.

           2.5 - The search for a refractive disorder with the automatic refractometer.

           2.6 - Measurement of Visual acuity for near and distance.

           2.7 - Examination of the eyeball as a whole, examination of the anterior chamber of the
           eye by the slit lamp.

           2.8 - Taking pictures of the fundus of the eye after pupillary dilation.

           2.9 - An autofluorescence search using a Scanning Laser Ophthalmoscopy (SLO).

           2.10 - Optical Coherence Tomography (OCT) which used to assess the thickness of each of
           retinal layers.

           2.11 - Electrophysiological examination, Electroretinogram (ERG) that allows to record
           the functional value of the retina.

           These two latter examinations last on average 10 minutes after dilation of the pupil.

        3. - A blood sample of 10 milliliters to carry out genetic studies to identify the gene
           responsible for this condition and genetic counseling refined by taking account the
           results of this study.

      Intermediate visit M12: only for patients younger than 6 years of age on inclusion.
observational model: Cohort
time perspective: Retrospective
measure: Improve genetic counseling by establishment of prevalences of each of genetic subtypes within a expanded population of patients with LCA.
time frame: 24 MONTHS
measure: Measurement of visual acuity using the logarithmic scale for children under 5
time frame: 24 MONTHS
measure: Measurement of visual acuity using Early Treatment Diabetic Retinopathy Study scale (ETDRS) for far vision
time frame: 24 MONTHS
measure: The "Parinaud Scale" for near vision (After the age of 6)
time frame: 24 MONTHS
measure: Visual field evaluation Survey
time frame: 24 MONTHS
measure: Measurement of refraction by portable automatic refractometer.
time frame: 24 MONTHS
measure: Screening for color vision abnormalities using "children's boards" of "Ishihara Test" from the age of 3-4.
time frame: 24 MONTHS
measure: Screening for color vision abnormalities using "regular boards" as soon as learning to read figures from the age of five.
time frame: 24 MONTHS
measure: Test the color vision deficiency using the " Farnsworth test" in adults and children after the age of 6.
time frame: 24 MONTHS
measure: The visual field test using the Goldman dome in adults and children aged 6 to 7.
time frame: 24 MONTHS
measure: Electrophysiological examination using Electroretinogram.
time frame: 24 MONTHS
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: Accepts Healthy Volunteers
last name: Josseline KAPLAN, MD
role: Principal Investigator
affiliation: Necker-Enfants Malades Hospital, 75015 Paris. France
facility: 
country: France
responsible party type: Sponsor
mesh term: Blindness
mesh term: Leber Congenital Amaurosis