<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/NCT03295071</url>
  </required_header>
  <id_info>
    <org_study_id>GS010_Registry_001</org_study_id>
    <nct_id>NCT03295071</nct_id>
  </id_info>
  <brief_title>REALITY LHON Registry</brief_title>
  <acronym>REALITY</acronym>
  <official_title>Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>GenSight Biologics</agency>
      <agency_class>Industry</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>GenSight Biologics</source>
  <oversight_info>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      This study is a multi-country retrospective and cross-sectional observational study of&#xD;
      affected LHON subjects, based on retrospective subjects' medical chart abstractions and&#xD;
      cross-sectional administration of patient-reported outcomes (PROs).&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The purpose of this study is to understand the evolution of visual functional and structural&#xD;
      changes and other associated symptoms in patients with LHON. The relation between genetic,&#xD;
      lifestyle and/or environmental factors and the LHON disease will be described, and a better&#xD;
      understanding of the natural history of LHON disease and the healthcare associated to with&#xD;
      the disease will be sought.&#xD;
&#xD;
      In addition, we would also like to understand the economic burden for patients and their&#xD;
      families with LHON resulting from direct and indirect costs they may have because of their&#xD;
      disease.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">January 3, 2018</start_date>
  <completion_date type="Actual">July 1, 2020</completion_date>
  <primary_completion_date type="Actual">July 1, 2020</primary_completion_date>
  <study_type>Observational [Patient Registry]</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Cohort</observational_model>
    <time_perspective>Cross-Sectional</time_perspective>
  </study_design_info>
  <target_duration>3 Years</target_duration>
  <primary_outcome>
    <measure>Visual Function</measure>
    <time_frame>All assessments available before enrollment</time_frame>
    <description>Visual function will include visual examination data from medical records.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>The National Eye Institute Visual Function Questionnaire (VFQ)-25</measure>
    <time_frame>Enrollment</time_frame>
    <description>The National Eye Institute Visual Function Questionnaire (NEI-VFQ or VFQ)-25 is a valid and reliable 25-item version of the 51-item VFQ.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>The 36-Item Short Form Health Survey (SF-36)</measure>
    <time_frame>Enrollment</time_frame>
    <description>The SF-36 surveys health status and quality of life</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Child Health Questionnaire (CHQ)</measure>
    <time_frame>Enrollment</time_frame>
    <description>The CHQ uses the same structure and methodological approach as the SF-36 and is designed and normed for children from 5-to-18 years of age.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>EuroQol-5 Dimension (EQ-5D)-5L</measure>
    <time_frame>Enrollment</time_frame>
    <description>The EuroQol-5 Dimension-5 Level (EQ-5D-5L) is a generic HRQoL instrument that is widely used as a PRO measure.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Economic burden of disease</measure>
    <time_frame>Enrollment</time_frame>
    <description>Data will be gathered by questionnaire at cross-sectional survey. Direct costs and indirect costs resulting from LHON will be estimated by all enrolled subjects. Direct costs will include the medical and non-medical direct costs due to LHON</description>
  </secondary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Actual">44</enrollment>
  <condition>Leber Hereditary Optic Neuropathy</condition>
  <arm_group>
    <arm_group_label>Single-group study</arm_group_label>
    <description>This study is a multi-country retrospective and cross-sectional observational study of affected LHON subjects, based on retrospective subjects' medical chart abstractions and cross-sectional administration of patient-reported outcomes (PROs).</description>
  </arm_group>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Patient-reported outcomes (PROs)</intervention_name>
    <description>Patient-reported outcomes (PROs)</description>
    <arm_group_label>Single-group study</arm_group_label>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        The study will recruit at least 50 affected LHON subjects (both adult and pediatric) from&#xD;
        global clinical sites at the following countries, but not limited to: Spain, Italy, France,&#xD;
        United Kingdom, and the United States. Efforts will be done to maintain the population of&#xD;
        at least 50 affected LHON subjects.&#xD;
&#xD;
        Recruitment efforts of recruiting approximately 75% of eligible subjects with 11778/ND4&#xD;
        mutation and 30% of eligible subjects under the age of 18 at the time of index date,&#xD;
        wherever possible, will be done at the study level.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Subjects who have a confirmed and genotyped diagnosis of LHON;&#xD;
&#xD;
          -  Subjects with visual function outcomes data including at least 2 visual function&#xD;
             assessments between 1 year and 3 years (+/- 4 weeks) after vision loss;&#xD;
&#xD;
          -  Subjects who are willing and able to provide written informed consent if required as&#xD;
             per local regulations;&#xD;
&#xD;
          -  For LHON subjects under the age of 18 years, permission from a legal guardian to&#xD;
             participate in the study;&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Subjects who received any investigational drug, or participated in any LHON-related&#xD;
             interventional clinical trial during the observational period;&#xD;
&#xD;
          -  Subjects without medical charts data available.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <location>
    <facility>
      <name>Doheny Eye Center UCLA Pasadena</name>
      <address>
        <city>Pasadena</city>
        <state>California</state>
        <zip>91105</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Emory University Hospital</name>
      <address>
        <city>Atlanta</city>
        <state>Georgia</state>
        <zip>30322</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Massachusetts Eye and Ear Infirmary</name>
      <address>
        <city>Boston</city>
        <state>Massachusetts</state>
        <zip>02114</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Wills Eye Institute</name>
      <address>
        <city>Philadelphia</city>
        <state>Pennsylvania</state>
        <zip>19107</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Alkek Eye Center</name>
      <address>
        <city>Houston</city>
        <state>Texas</state>
        <zip>77030</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>CHU d'Angers</name>
      <address>
        <city>Angers</city>
        <zip>49100</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>CHNO Les Quinze Vingts</name>
      <address>
        <city>Paris</city>
        <zip>75012</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Ospedale Bellaria</name>
      <address>
        <city>Bologna</city>
        <zip>40139</zip>
        <country>Italy</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Ospedale San Raffaele</name>
      <address>
        <city>Milano</city>
        <zip>20132</zip>
        <country>Italy</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Institut Catala de Retina</name>
      <address>
        <city>Barcelona</city>
        <zip>08022</zip>
        <country>Spain</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Moorfields Eye Hospital</name>
      <address>
        <city>London</city>
        <state>Greater London</state>
        <zip>EC1V 2PD</zip>
        <country>United Kingdom</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>France</country>
    <country>Italy</country>
    <country>Spain</country>
    <country>United Kingdom</country>
    <country>United States</country>
  </location_countries>
  <link>
    <url>http://www.gensight-biologics.com/</url>
    <description>GenSight Biologics Website</description>
  </link>
  <verification_date>July 2020</verification_date>
  <study_first_submitted>September 22, 2017</study_first_submitted>
  <study_first_submitted_qc>September 26, 2017</study_first_submitted_qc>
  <study_first_posted type="Actual">September 27, 2017</study_first_posted>
  <last_update_submitted>February 3, 2021</last_update_submitted>
  <last_update_submitted_qc>February 3, 2021</last_update_submitted_qc>
  <last_update_posted type="Actual">February 8, 2021</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Heredity Optic Atrophy</keyword>
  <keyword>Leber Hereditary Optic Atrophy</keyword>
  <keyword>Leber Hereditary Optic Neuropathy</keyword>
  <keyword>Eye Diseases</keyword>
  <keyword>Hereditary Eye Diseases</keyword>
  <keyword>Inherited retinal dystrophies or degeneration</keyword>
  <keyword>Inborn Genetic Disease</keyword>
  <keyword>Gene Therapy</keyword>
  <keyword>Intravitreal Injections</keyword>
  <keyword>Mitochondrial Disease</keyword>
  <keyword>AAV2 Vectors</keyword>
  <keyword>Nervous System Diseases</keyword>
  <keyword>Neurodegenerative Disease</keyword>
  <keyword>Heredodegenerative Disorders of the Nervous System</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Optic Nerve Diseases</mesh_term>
    <mesh_term>Optic Atrophy, Hereditary, Leber</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/NCT03295071
org study id: GS010_Registry_001
nct id: NCT03295071
lead sponsor: 
is fda regulated drug: No
is fda regulated device: No
This study is a multi-country retrospective and cross-sectional observational study of
      affected LHON subjects, based on retrospective subjects' medical chart abstractions and
      cross-sectional administration of patient-reported outcomes (PROs).
The purpose of this study is to understand the evolution of visual functional and structural
      changes and other associated symptoms in patients with LHON. The relation between genetic,
      lifestyle and/or environmental factors and the LHON disease will be described, and a better
      understanding of the natural history of LHON disease and the healthcare associated to with
      the disease will be sought.

      In addition, we would also like to understand the economic burden for patients and their
      families with LHON resulting from direct and indirect costs they may have because of their
      disease.
observational model: Cohort
time perspective: Cross-Sectional
measure: Visual Function
time frame: All assessments available before enrollment
description: Visual function will include visual examination data from medical records.
measure: The National Eye Institute Visual Function Questionnaire (VFQ)-25
time frame: Enrollment
description: The National Eye Institute Visual Function Questionnaire (NEI-VFQ or VFQ)-25 is a valid and reliable 25-item version of the 51-item VFQ.
measure: The 36-Item Short Form Health Survey (SF-36)
time frame: Enrollment
description: The SF-36 surveys health status and quality of life
measure: Child Health Questionnaire (CHQ)
time frame: Enrollment
description: The CHQ uses the same structure and methodological approach as the SF-36 and is designed and normed for children from 5-to-18 years of age.
measure: EuroQol-5 Dimension (EQ-5D)-5L
time frame: Enrollment
description: The EuroQol-5 Dimension-5 Level (EQ-5D-5L) is a generic HRQoL instrument that is widely used as a PRO measure.
measure: Economic burden of disease
time frame: Enrollment
description: Data will be gathered by questionnaire at cross-sectional survey. Direct costs and indirect costs resulting from LHON will be estimated by all enrolled subjects. Direct costs will include the medical and non-medical direct costs due to LHON
arm group label: Single-group study
description: This study is a multi-country retrospective and cross-sectional observational study of affected LHON subjects, based on retrospective subjects' medical chart abstractions and cross-sectional administration of patient-reported outcomes (PROs).
intervention type: Other
intervention name: Patient-reported outcomes (PROs)
description: Patient-reported outcomes (PROs)
arm group label: Single-group study
study pop: 
sampling method: Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
country: France
country: Italy
country: Spain
country: United Kingdom
country: United States
url: http://www.gensight-biologics.com/
description: GenSight Biologics Website
responsible party type: Sponsor
mesh term: Optic Nerve Diseases
mesh term: Optic Atrophy, Hereditary, Leber