<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/NCT03814499</url>
  </required_header>
  <id_info>
    <org_study_id>TIGEM3-UshTher-NHS</org_study_id>
    <nct_id>NCT03814499</nct_id>
  </id_info>
  <brief_title>Natural History Study in Subjects With Usher Syndrome</brief_title>
  <official_title>A Multicentre Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects With Usher Syndrome Type 1B (USH1B)</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Fondazione Telethon</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Fondazione Telethon</source>
  <brief_summary>
    <textblock>
      The objective of the study is to evaluate the natural progression of disease over time in&#xD;
      USHIB patients&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      This natural history study (NHS) is being conducted to understand the progression of disease&#xD;
      in USH1B patients as measured by a number of vision-related assessments. Disease progression&#xD;
      will be evaluated as change over time in these measures, and associations between the&#xD;
      endpoints will be examined.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Recruiting</last_known_status>
  <start_date type="Actual">June 1, 2018</start_date>
  <completion_date type="Anticipated">December 30, 2021</completion_date>
  <primary_completion_date type="Anticipated">December 30, 2020</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Other</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>visual acuity</measure>
    <time_frame>1 year</time_frame>
    <description>Refraction and Best Corrected Visual Acuity</description>
  </primary_outcome>
  <primary_outcome>
    <measure>visual acuity</measure>
    <time_frame>2 years</time_frame>
    <description>Refraction and Best Corrected Visual Acuity</description>
  </primary_outcome>
  <primary_outcome>
    <measure>visual field testing</measure>
    <time_frame>1 year</time_frame>
    <description>kinetic perimetry and a full field static perimetry</description>
  </primary_outcome>
  <primary_outcome>
    <measure>visual field testing</measure>
    <time_frame>2 years</time_frame>
    <description>kinetic perimetry and a full field static perimetry</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Clinical ophthalmic examination</measure>
    <time_frame>1 year</time_frame>
    <description>External Ocular Examination to assess the motility of the extraocular muscles and the appearance and function</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Clinical ophthalmic examination</measure>
    <time_frame>2 years</time_frame>
    <description>External Ocular Examination to assess the motility of the extraocular muscles and the appearance and function</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Clinical ophthalmic examination</measure>
    <time_frame>1 year</time_frame>
    <description>Slit Lamp Examination to assess eyelids, lashes, conjunctiva, cornea, lens, iris and anterior chamber</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Clinical ophthalmic examination</measure>
    <time_frame>2 years</time_frame>
    <description>Slit Lamp Examination to assess eyelids, lashes, conjunctiva, cornea, lens, iris and anterior chamber</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Clinical ophthalmic examination</measure>
    <time_frame>1 year</time_frame>
    <description>Intraocular Pressure measurement</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Clinical ophthalmic examination</measure>
    <time_frame>2 years</time_frame>
    <description>Intraocular Pressure measurement</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Clinical ophthalmic examination</measure>
    <time_frame>1 year</time_frame>
    <description>Dilated Fundus Ophthalmoscopy to assess the retina, macula, choroid and optic nerve head.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Clinical ophthalmic examination</measure>
    <time_frame>2 year</time_frame>
    <description>Dilated Fundus Ophthalmoscopy to assess the retina, macula, choroid and optic nerve head.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Microperimetry</measure>
    <time_frame>1 year</time_frame>
    <description>central visual field</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Microperimetry</measure>
    <time_frame>2 years</time_frame>
    <description>central visual field</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Safety and Tolerability: Number of participants with treatment-related adverse events as assessed by CTCAE v4.0</measure>
    <time_frame>1 year</time_frame>
    <description>Safety and Tolerability: Number of participants with treatment-related adverse events as assessed by CTCAE v4.0</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Safety and Tolerability: Number of participants with treatment-related adverse events as assessed by CTCAE v4.0</measure>
    <time_frame>2 years</time_frame>
    <description>Safety and Tolerability: Number of participants with treatment-related adverse events as assessed by CTCAE v4.0</description>
  </secondary_outcome>
  <enrollment type="Anticipated">50</enrollment>
  <condition>Usher Syndrome, Type 1B</condition>
  <eligibility>
    <study_pop>
      <textblock>
        Subjects affected by Usher Syndrome 1B disease fulfilled eligibility criteria&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          1. Must be willing to adhere to protocol for long-term follow-up as evidenced by written&#xD;
             informed consent or parental permission and subject assent.&#xD;
&#xD;
          2. Subjects diagnosed with USH1.&#xD;
&#xD;
          3. Molecular diagnosis of USH1B due to MYO7A mutations (homozygotes or compound&#xD;
             heterozygotes).&#xD;
&#xD;
          4. Age eight years old or older at the time of baseline.&#xD;
&#xD;
          5. Visual acuity ≥ 20/640 in at least one eye&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          1. Unable or unwilling to meet requirements of the study.&#xD;
&#xD;
          2. Unable to communicate with suitable verbal/auditory and/or tactile sign language (in&#xD;
             the opinion of the investigator)&#xD;
&#xD;
          3. Participation in a clinical study with an investigational drug in the past six months.&#xD;
&#xD;
          4. Pre-existing eye conditions that would interfere with the interpretation of study&#xD;
             endpoints (for example, glaucoma, corneal or significant lenticular opacities, cystoid&#xD;
             macular oedema, macular hole).&#xD;
&#xD;
          5. Complicating systemic diseases in which the disease itself, or the treatment for the&#xD;
             disease, can alter ocular function. Examples are malignancies whose treatment could&#xD;
             affect central nervous system function (for example, radiation treatment of the orbit;&#xD;
             leukemia with CNS/optic nerve involvement). Also excluded would be subjects with&#xD;
             immuno- compromising diseases, as there could be susceptibility to opportunistic&#xD;
             infection [such as cytomegalovirus (CMV) retinitis].&#xD;
&#xD;
          6. Subjects with diabetes or sickle cell disease would be excluded if they had any&#xD;
             manifestation of advanced retinopathy (e.g. macular edema or proliferative changes).&#xD;
&#xD;
          7. Prior ocular surgery within three months.&#xD;
&#xD;
          8. Any other condition that would not allow the potential subject to complete follow-up&#xD;
             examinations during the course of the study and, in the opinion of the investigator,&#xD;
             makes the potential subject unsuitable for the study.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>8 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>FRANCESCA SIMONELLI</last_name>
    <role>Principal Investigator</role>
    <affiliation>Eye Clinic of the University of Campania Luigi Vanvitelli, Naples, Italy</affiliation>
  </overall_official>
  <overall_official>
    <last_name>Ingeborgh van den Born</last_name>
    <role>Principal Investigator</role>
    <affiliation>Stichting Oogziekenhuis Rotterdam, Rotterdam, The Netherland.</affiliation>
  </overall_official>
  <overall_official>
    <last_name>Carmen Ayuso</last_name>
    <role>Principal Investigator</role>
    <affiliation>Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz, Madrid, Spain</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>BIANCA FONTANELLA</last_name>
    <phone>+3908119230622</phone>
    <email>fontanel@tigem.it</email>
  </overall_contact>
  <location>
    <facility>
      <name>Eye Clinic of the University of Campania Luigi Vanvitelli</name>
      <address>
        <city>Naples</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Francesca Simonelli</last_name>
      <phone>+390815666761</phone>
      <email>Francesca.SIMONELLI@unicampania.it</email>
    </contact>
    <investigator>
      <last_name>Francesca Simonelli</last_name>
      <role>Principal Investigator</role>
    </investigator>
  </location>
  <location>
    <facility>
      <name>Stichting Oogziekenhuis Rotterdam</name>
      <address>
        <city>Rotterdam</city>
        <country>Netherlands</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Ingeborgh van den Born</last_name>
      <email>born@oogziekenhuis.nl</email>
    </contact>
    <investigator>
      <last_name>Ingeborgh van den Born</last_name>
      <role>Principal Investigator</role>
    </investigator>
  </location>
  <location>
    <facility>
      <name>Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz</name>
      <address>
        <city>Madrid</city>
        <country>Spain</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Carmen Ayuso</last_name>
      <email>cayuso@fjd.es</email>
    </contact>
    <investigator>
      <last_name>Carmen Ayuso</last_name>
      <role>Principal Investigator</role>
    </investigator>
  </location>
  <location_countries>
    <country>Italy</country>
    <country>Netherlands</country>
    <country>Spain</country>
  </location_countries>
  <verification_date>January 2019</verification_date>
  <study_first_submitted>January 18, 2019</study_first_submitted>
  <study_first_submitted_qc>January 22, 2019</study_first_submitted_qc>
  <study_first_posted type="Actual">January 24, 2019</study_first_posted>
  <last_update_submitted>January 22, 2019</last_update_submitted>
  <last_update_submitted_qc>January 22, 2019</last_update_submitted_qc>
  <last_update_posted type="Actual">January 24, 2019</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>Usher Syndromes</mesh_term>
    <mesh_term>Syndrome</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/NCT03814499
org study id: TIGEM3-UshTher-NHS
nct id: NCT03814499
lead sponsor: 
The objective of the study is to evaluate the natural progression of disease over time in
      USHIB patients
This natural history study (NHS) is being conducted to understand the progression of disease
      in USH1B patients as measured by a number of vision-related assessments. Disease progression
      will be evaluated as change over time in these measures, and associations between the
      endpoints will be examined.
observational model: Other
time perspective: Prospective
measure: visual acuity
time frame: 1 year
description: Refraction and Best Corrected Visual Acuity
measure: visual acuity
time frame: 2 years
description: Refraction and Best Corrected Visual Acuity
measure: visual field testing
time frame: 1 year
description: kinetic perimetry and a full field static perimetry
measure: visual field testing
time frame: 2 years
description: kinetic perimetry and a full field static perimetry
measure: Clinical ophthalmic examination
time frame: 1 year
description: External Ocular Examination to assess the motility of the extraocular muscles and the appearance and function
measure: Clinical ophthalmic examination
time frame: 2 years
description: External Ocular Examination to assess the motility of the extraocular muscles and the appearance and function
measure: Clinical ophthalmic examination
time frame: 1 year
description: Slit Lamp Examination to assess eyelids, lashes, conjunctiva, cornea, lens, iris and anterior chamber
measure: Clinical ophthalmic examination
time frame: 2 years
description: Slit Lamp Examination to assess eyelids, lashes, conjunctiva, cornea, lens, iris and anterior chamber
measure: Clinical ophthalmic examination
time frame: 1 year
description: Intraocular Pressure measurement
measure: Clinical ophthalmic examination
time frame: 2 years
description: Intraocular Pressure measurement
measure: Clinical ophthalmic examination
time frame: 1 year
description: Dilated Fundus Ophthalmoscopy to assess the retina, macula, choroid and optic nerve head.
measure: Clinical ophthalmic examination
time frame: 2 year
description: Dilated Fundus Ophthalmoscopy to assess the retina, macula, choroid and optic nerve head.
measure: Microperimetry
time frame: 1 year
description: central visual field
measure: Microperimetry
time frame: 2 years
description: central visual field
measure: Safety and Tolerability: Number of participants with treatment-related adverse events as assessed by CTCAE v4.0
time frame: 1 year
description: Safety and Tolerability: Number of participants with treatment-related adverse events as assessed by CTCAE v4.0
measure: Safety and Tolerability: Number of participants with treatment-related adverse events as assessed by CTCAE v4.0
time frame: 2 years
description: Safety and Tolerability: Number of participants with treatment-related adverse events as assessed by CTCAE v4.0
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 8 Years
maximum age: N/A
healthy volunteers: No
last name: FRANCESCA SIMONELLI
role: Principal Investigator
affiliation: Eye Clinic of the University of Campania Luigi Vanvitelli, Naples, Italy
last name: Ingeborgh van den Born
role: Principal Investigator
affiliation: Stichting Oogziekenhuis Rotterdam, Rotterdam, The Netherland.
last name: Carmen Ayuso
role: Principal Investigator
affiliation: Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz, Madrid, Spain
last name: BIANCA FONTANELLA
phone: +3908119230622
email: fontanel@tigem.it
facility: 
status: Recruiting
contact: 
investigator: 
facility: 
status: Recruiting
contact: 
investigator: 
facility: 
status: Recruiting
contact: 
investigator: 
country: Italy
country: Netherlands
country: Spain
responsible party type: Sponsor
mesh term: Usher Syndromes
mesh term: Syndrome