<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/NCT03307304</url>
  </required_header>
  <id_info>
    <org_study_id>180002</org_study_id>
    <secondary_id>18-CH-0002</secondary_id>
    <nct_id>NCT03307304</nct_id>
  </id_info>
  <brief_title>Investigations of Juvenile Neuronal Ceroid Lipofuscinosis</brief_title>
  <official_title>Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)</agency>
      <agency_class>NIH</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>National Institutes of Health Clinical Center (CC)</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>
      Background:&#xD;
&#xD;
      CLN3, or Batten disease, is a genetic disorder. This deadly disease leads to decline of brain&#xD;
      and nervous system functions. Symptoms of CLN3 typically occur between 4 and 7 years of age.&#xD;
      They include changes in how a person sees, thinks, and moves. CLN3 can also cause seizures.&#xD;
      No effective treatments for the disease are yet known. There is limited testing of potential&#xD;
      therapies. Researchers want to study CLN3 more so they can improve future therapies.&#xD;
&#xD;
      Objective:&#xD;
&#xD;
      To identify clinical or biochemical markers that can be used as therapeutic outcome measures&#xD;
      for CLN3.&#xD;
&#xD;
      Eligibility:&#xD;
&#xD;
      People with CLN3. It must be based on&#xD;
&#xD;
      Two CLN3 mutations OR&#xD;
&#xD;
      One CLN3 mutation AND findings seen with a powerful microscope&#xD;
&#xD;
      Family members of a person with CLN3.&#xD;
&#xD;
      Design:&#xD;
&#xD;
      Participants will have already been referred to NIH for CLN3 evaluation.&#xD;
&#xD;
      If participants agree to do the study, they will:&#xD;
&#xD;
        1. give spinal fluid, blood, urine, and skin samples. They may provide other samples if&#xD;
           they were already collected. These may include cells, surgical specimens, and DNA.&#xD;
&#xD;
        2. will be seen by multiple healthcare specialists.&#xD;
&#xD;
      Participants may provide medical records or photos. Participants will sign a release of&#xD;
      medical records form.P&#xD;
&#xD;
      Researchers may send samples or clinical data to other investigators. For research testing,&#xD;
      the samples will not include the participant s name. For a test in a clinical lab,&#xD;
      researchers will include the participant s name. These results will become part of the&#xD;
      clinical record at NIH.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Study Description:&#xD;
&#xD;
      The purpose of this protocol is to obtain both baseline and rate of progression data on&#xD;
      clinical and biochemical markers that may later be used as an outcome measure in a clinical&#xD;
      trial, and to establish a biorepository of samples from CLN3 participants. For comparisons,&#xD;
      focused clinical data and relevant evaluations and biospecimens will also be collected from&#xD;
      individuals with Neuronal Ceroids Lipofuscinosis (NCL) of other types and from family members&#xD;
      of all affected individuals.&#xD;
&#xD;
      Objectives:&#xD;
&#xD;
      Primary Objective:&#xD;
&#xD;
        1. Identify clinical or biochemical markers that can be used as therapeutic outcome&#xD;
           measures for CLN3.&#xD;
&#xD;
        2. Evaluate clinical aspects of CLN3 to provide tools for future therapeutic trials.&#xD;
&#xD;
      Secondary Objectives:&#xD;
&#xD;
      Establish a biorepository of samples from well-characterized individuals with CLN3, and&#xD;
      family members of CLN3 individuals, for future research related to CLN3.&#xD;
&#xD;
      Endpoints:&#xD;
&#xD;
      Primary Endpoint:&#xD;
&#xD;
        1. Blood, urine, or CSF biomarkers.&#xD;
&#xD;
        2. Proportion of participants who achieve a clinically valid and interpretable score on&#xD;
           administered measures.&#xD;
&#xD;
        3. Scores obtained for each administered measure.&#xD;
&#xD;
      Secondary Endpoints:&#xD;
&#xD;
      Tolerability and feasibility of each measure of the clinical battery of assessments based on&#xD;
      clinician observation.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">November 27, 2017</start_date>
  <completion_date type="Anticipated">December 31, 2050</completion_date>
  <primary_completion_date type="Anticipated">December 31, 2050</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>Other</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Identify clinical or biochemical markers that can be used as a therapeutic outcome measures for CLN3.</measure>
    <time_frame>ongoing</time_frame>
    <description>Identification of biomarkers</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Evaluate clinical aspects of CLN3 to provide tools for future therapeutic trials</measure>
    <time_frame>ongoing</time_frame>
    <description>Evaluation of clinical signs and symptoms</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Establish a biorepository of samples from well-characterized CLN3 patients for future research related to CLN3</measure>
    <time_frame>ongoing</time_frame>
    <description>Collection of biospecimens</description>
  </secondary_outcome>
  <number_of_groups>2</number_of_groups>
  <enrollment type="Anticipated">300</enrollment>
  <condition>Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)</condition>
  <condition>Batten Disease</condition>
  <arm_group>
    <arm_group_label>Family members</arm_group_label>
    <description>Unaffected family members of individuals diagnosed with CLN3-Batten</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Proband/Affected Individuals</arm_group_label>
    <description>Individuals diagnosed with CLN3-Batten</description>
  </arm_group>
  <eligibility>
    <study_pop>
      <textblock>
        Individuals with CLN3-Batten and family members who are interested in the study and have&#xD;
        consented to enroll.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        -  INCLUSION CRITERIA:&#xD;
&#xD;
        For the Main and Sub-Studies, participants &gt; 1 week of age, of all genders, demographics,&#xD;
        geographic locations, and disease severity will be recruited in order to obtain&#xD;
        cross-sectional representation of CLN3 (Main and Sub-Studies) or all NCLs (Sub-Study B).&#xD;
        Participants in the Main study will be followed at approximately yearly intervals to obtain&#xD;
        longitudinal data. Participants in Sub-Study A may elect to send in medical records and&#xD;
        samples only, or to come to the NIH for evaluations as outlined in Section 4. We anticipate&#xD;
        that&#xD;
&#xD;
        participants in Sub-Study B will be seen mostly at NCL/CLN3-related family conferences.&#xD;
&#xD;
        Main Study:&#xD;
&#xD;
        Individuals &gt; 1 week of age with a diagnosis of CLN3. Diagnosis of CLN3 determined by one&#xD;
        of the following:&#xD;
&#xD;
          1. Two CLN3 mutations&#xD;
&#xD;
          2. One CLN3 mutation AND&#xD;
&#xD;
        i) clinical presentation suggestive of CLN3, OR&#xD;
&#xD;
        ii) characteristic electron microscopy (EM) findings (such as curvilinear body, fingerprint&#xD;
        profile, granular osmiophilic deposits).&#xD;
&#xD;
        Sub-Study A:&#xD;
&#xD;
        Individuals &gt; 1 week of age with a diagnosis of CLN3. Diagnosis of CLN3 determined by one&#xD;
        of the following:&#xD;
&#xD;
          1. Two CLN3 mutations&#xD;
&#xD;
          2. One CLN3 mutation AND&#xD;
&#xD;
        i) clinical presentation suggestive of CLN3, OR&#xD;
&#xD;
        ii) characteristic electron microscopy (EM) findings (such as curvilinear body, fingerprint&#xD;
        profile, granular osmiophilic deposits).&#xD;
&#xD;
        OR&#xD;
&#xD;
        Individuals &gt; 1 month of age who have family member(s) diagnosed with CLN3&#xD;
&#xD;
        Sub-Study B:&#xD;
&#xD;
        Individuals &gt; 1 week of age with a clinical diagnosis of CLN3 or NCL.&#xD;
&#xD;
        OR&#xD;
&#xD;
        Individuals &gt; 1 month of age who have family member(s) diagnosed with CLN3 or NCL.&#xD;
&#xD;
        EXCLUSION CRITERIA:&#xD;
&#xD;
        Main Study:&#xD;
&#xD;
          1. Individuals who cannot travel to the NIH because of their medical condition.&#xD;
&#xD;
          2. Individuals who, in the opinion of the Investigator, are unable to comply with the&#xD;
             protocol or have medical conditions that would potentially increase the risk of&#xD;
             participation.&#xD;
&#xD;
          3. Females who are pregnant.&#xD;
&#xD;
        Sub-Studies A and B:&#xD;
&#xD;
          1. Unaffected individuals &gt; 18 years of age who have cognitive impairments.&#xD;
&#xD;
          2. Individuals who, in the opinion of the Investigator, are unable to comply with the&#xD;
             protocol or have medical conditions that would potentially increase the risk of&#xD;
             participation.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>1 Week</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>An N Dang Do, M.D.</last_name>
    <role>Principal Investigator</role>
    <affiliation>Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>An N Dang Do, M.D.</last_name>
    <phone>(301) 496-8849</phone>
    <email>an.dangdo@nih.gov</email>
  </overall_contact>
  <location>
    <facility>
      <name>National Institutes of Health Clinical Center</name>
      <address>
        <city>Bethesda</city>
        <state>Maryland</state>
        <zip>20892</zip>
        <country>United States</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)</last_name>
      <phone>800-411-1222</phone>
      <phone_ext>TTY8664111010</phone_ext>
      <email>prpl@cc.nih.gov</email>
    </contact>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <link>
    <url>https://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_2018-CH-0002.html</url>
    <description>NIH Clinical Center Detailed Web Page</description>
  </link>
  <verification_date>May 9, 2023</verification_date>
  <study_first_submitted>October 7, 2017</study_first_submitted>
  <study_first_submitted_qc>October 10, 2017</study_first_submitted_qc>
  <study_first_posted type="Actual">October 11, 2017</study_first_posted>
  <last_update_submitted>May 11, 2023</last_update_submitted>
  <last_update_submitted_qc>May 11, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">May 12, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Batten Disease</keyword>
  <keyword>Neurodegenerative</keyword>
  <keyword>Lysosomal Storage</keyword>
  <keyword>Biomarkers</keyword>
  <keyword>Longitudinal Study</keyword>
  <keyword>Natural History</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Neuronal Ceroid-Lipofuscinoses</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/NCT03307304
org study id: 180002
secondary id: 18-CH-0002
nct id: NCT03307304
lead sponsor: 
is fda regulated drug: No
is fda regulated device: No
Background:

      CLN3, or Batten disease, is a genetic disorder. This deadly disease leads to decline of brain
      and nervous system functions. Symptoms of CLN3 typically occur between 4 and 7 years of age.
      They include changes in how a person sees, thinks, and moves. CLN3 can also cause seizures.
      No effective treatments for the disease are yet known. There is limited testing of potential
      therapies. Researchers want to study CLN3 more so they can improve future therapies.

      Objective:

      To identify clinical or biochemical markers that can be used as therapeutic outcome measures
      for CLN3.

      Eligibility:

      People with CLN3. It must be based on

      Two CLN3 mutations OR

      One CLN3 mutation AND findings seen with a powerful microscope

      Family members of a person with CLN3.

      Design:

      Participants will have already been referred to NIH for CLN3 evaluation.

      If participants agree to do the study, they will:

        1. give spinal fluid, blood, urine, and skin samples. They may provide other samples if
           they were already collected. These may include cells, surgical specimens, and DNA.

        2. will be seen by multiple healthcare specialists.

      Participants may provide medical records or photos. Participants will sign a release of
      medical records form.P

      Researchers may send samples or clinical data to other investigators. For research testing,
      the samples will not include the participant s name. For a test in a clinical lab,
      researchers will include the participant s name. These results will become part of the
      clinical record at NIH.
Study Description:

      The purpose of this protocol is to obtain both baseline and rate of progression data on
      clinical and biochemical markers that may later be used as an outcome measure in a clinical
      trial, and to establish a biorepository of samples from CLN3 participants. For comparisons,
      focused clinical data and relevant evaluations and biospecimens will also be collected from
      individuals with Neuronal Ceroids Lipofuscinosis (NCL) of other types and from family members
      of all affected individuals.

      Objectives:

      Primary Objective:

        1. Identify clinical or biochemical markers that can be used as therapeutic outcome
           measures for CLN3.

        2. Evaluate clinical aspects of CLN3 to provide tools for future therapeutic trials.

      Secondary Objectives:

      Establish a biorepository of samples from well-characterized individuals with CLN3, and
      family members of CLN3 individuals, for future research related to CLN3.

      Endpoints:

      Primary Endpoint:

        1. Blood, urine, or CSF biomarkers.

        2. Proportion of participants who achieve a clinically valid and interpretable score on
           administered measures.

        3. Scores obtained for each administered measure.

      Secondary Endpoints:

      Tolerability and feasibility of each measure of the clinical battery of assessments based on
      clinician observation.
observational model: Cohort
time perspective: Other
measure: Identify clinical or biochemical markers that can be used as a therapeutic outcome measures for CLN3.
time frame: ongoing
description: Identification of biomarkers
measure: Evaluate clinical aspects of CLN3 to provide tools for future therapeutic trials
time frame: ongoing
description: Evaluation of clinical signs and symptoms
measure: Establish a biorepository of samples from well-characterized CLN3 patients for future research related to CLN3
time frame: ongoing
description: Collection of biospecimens
arm group label: Family members
description: Unaffected family members of individuals diagnosed with CLN3-Batten
arm group label: Proband/Affected Individuals
description: Individuals diagnosed with CLN3-Batten
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 1 Week
maximum age: N/A
healthy volunteers: No
last name: An N Dang Do, M.D.
role: Principal Investigator
affiliation: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
last name: An N Dang Do, M.D.
phone: (301) 496-8849
email: an.dangdo@nih.gov
facility: 
status: Recruiting
contact: 
country: United States
url: https://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_2018-CH-0002.html
description: NIH Clinical Center Detailed Web Page
responsible party type: Sponsor
mesh term: Neuronal Ceroid-Lipofuscinoses