<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/NCT03285425</url>
  </required_header>
  <id_info>
    <org_study_id>IRB16-00554</org_study_id>
    <nct_id>NCT03285425</nct_id>
  </id_info>
  <brief_title>Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae</brief_title>
  <acronym>Batten'sCLN6</acronym>
  <official_title>Natural History Study of Batten's CLN6 Disease</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Emily de los Reyes</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Nationwide Children's Hospital</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>
      CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills&#xD;
      with motor delay, visual loss, seizures and ataxia. The investigators propose a natural&#xD;
      history study of this rare disorder since it is currently unknown. It is important to&#xD;
      understand disease progression in CLN6 disease to be able to judge therapeutic efficacy as&#xD;
      emerging therapies like gene therapy become available.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Neuronal Ceroid Lipofuscinosis (NCL) is the most common childhood neurodegenerative disorder&#xD;
      characterized by accumulation of autofluorescent waxy lipopigments in the brain and other&#xD;
      tissues. The symptoms manifest as blindness, seizures, ataxia, myoclonus and loss of&#xD;
      milestones or dementia. This group of disorders caused by an intracellular accumulation of&#xD;
      lipopigment (ceroid lipofuscin) material leads to neuronal death and is the most prevalent&#xD;
      class of childhood neurodegenerative disease.&#xD;
&#xD;
      There are 14 types of NCL with 13 genotypes. Most of these are autosomal recessive. Neuronal&#xD;
      ceroid lipofuscinosis, type 6 usually present like a late infantile NCL (CLN2) but can also&#xD;
      present at as a juvenile onset (Mole). The natural history is not well established and the&#xD;
      presentation maybe variable. There are currently no published data on the disease progression&#xD;
      of children with CLN6 disease&#xD;
&#xD;
      CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills&#xD;
      with motor delay, visual loss, seizures and ataxia. The investigators propose a natural&#xD;
      history study of this rare disorder since it is currently unknown. Although there are&#xD;
      descriptions of the clinical spectrum, the natural history has not been well described. It is&#xD;
      important to understand disease progression in CLN6 disease to be able to judge therapeutic&#xD;
      efficacy for as emerging therapies like gene therapy become available. The investigators will&#xD;
      identify children with a genotypic diagnosis of CLN6 who are consulting Nationwide Children's&#xD;
      hospital. The investigators will also recruit patients through family conferences of Batten's&#xD;
      disease Support and Research association. The investigators propose a retro prospective chart&#xD;
      review and longitudinal phone follow-up of with diagnosis of CLN6 to understand the onset and&#xD;
      progression of this disease.&#xD;
&#xD;
      CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills&#xD;
      with motor delay, visual loss, seizures and ataxia. The investigators propose a natural&#xD;
      history study of this rare disorder since it is currently unknown. Although there are&#xD;
      descriptions of the clinical spectrum, the natural history has not been well described. It is&#xD;
      important to understand disease progression in CLN6 disease to be able to judge therapeutic&#xD;
      efficacy for as emerging therapies like gene therapy become available. The investigators will&#xD;
      identify children with a genotypic diagnosis of CLN6 who are consulting Nationwide Children's&#xD;
      hospital. Patients will also be recruited through family conferences of Batten's disease&#xD;
      Support and Research association.&#xD;
&#xD;
      OBJECTIVES:&#xD;
&#xD;
      The primary objectives of this study include the following:&#xD;
&#xD;
        1. Assess the natural history of CLN6 by performing a prospective, longitudinal chart&#xD;
           review and phone follow-up of patients who have a diagnosis of Batten's disease, with a&#xD;
           specific genotype of CLN6.&#xD;
&#xD;
        2. To promote better understanding of this disease to compare therapeutic efficacy with&#xD;
           emerging therapies&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">January 2017</start_date>
  <completion_date type="Anticipated">January 2025</completion_date>
  <primary_completion_date type="Anticipated">January 2025</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>Natural history of disease progression</measure>
    <time_frame>Three years</time_frame>
    <description>The investigators will assess historical data for the onset of seizures, blindness, dementia, and loss of motor skills; and will request any available MRIs and EEGs.</description>
  </primary_outcome>
  <enrollment type="Anticipated">30</enrollment>
  <condition>Batten Disease</condition>
  <condition>CLN6</condition>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Natural history</intervention_name>
    <description>Parent interview</description>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        Study population will consist of children or adolescents (minors).&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Confirmed diagnosis of genotypic diagnosis of CLN6&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Patients who do not have a genotypic diagnosis of CLN6&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>2 Years</minimum_age>
    <maximum_age>25 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_contact>
    <last_name>Ashley M. Falke, BHS</last_name>
    <phone>(614) 722-4644</phone>
    <email>ashley.falke@nationwidechildrens.org</email>
  </overall_contact>
  <location>
    <facility>
      <name>Nationwide Children's Hospital</name>
      <address>
        <city>Columbus</city>
        <state>Ohio</state>
        <zip>43205</zip>
        <country>United States</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Emily C de los Reyes, MD</last_name>
    </contact>
    <contact_backup>
      <last_name>Ashley Falke</last_name>
      <phone>614-722-4625</phone>
      <phone_ext>24644</phone_ext>
    </contact_backup>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <reference>
    <citation>Schulz A, Kohlschutter A, Mink J, Simonati A, Williams R. NCL diseases - clinical perspectives. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17.</citation>
    <PMID>23602993</PMID>
  </reference>
  <reference>
    <citation>Canafoglia L, Gilioli I, Invernizzi F, Sofia V, Fugnanesi V, Morbin M, Chiapparini L, Granata T, Binelli S, Scaioli V, Garavaglia B, Nardocci N, Berkovic SF, Franceschetti S. Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations. Neurology. 2015 Jul 28;85(4):316-24. doi: 10.1212/WNL.0000000000001784. Epub 2015 Jun 26.</citation>
    <PMID>26115733</PMID>
  </reference>
  <reference>
    <citation>Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. Hum Mutat. 2003 Jul;22(1):35-42. doi: 10.1002/humu.10227.</citation>
    <PMID>12815591</PMID>
  </reference>
  <reference>
    <citation>Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet. 2002 Feb;70(2):324-35. doi: 10.1086/338190. Epub 2001 Dec 21.</citation>
    <PMID>11791207</PMID>
  </reference>
  <verification_date>October 2022</verification_date>
  <study_first_submitted>January 19, 2017</study_first_submitted>
  <study_first_submitted_qc>September 15, 2017</study_first_submitted_qc>
  <study_first_posted type="Actual">September 18, 2017</study_first_posted>
  <last_update_submitted>October 20, 2022</last_update_submitted>
  <last_update_submitted_qc>October 20, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">October 21, 2022</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor-Investigator</responsible_party_type>
    <investigator_affiliation>Nationwide Children's Hospital</investigator_affiliation>
    <investigator_full_name>Emily de los Reyes</investigator_full_name>
    <investigator_title>Principal Investigator</investigator_title>
  </responsible_party>
  <keyword>Batten's disease</keyword>
  <keyword>Neuronal Ceroid Lipofuscinosis</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Neuronal Ceroid-Lipofuscinoses</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>Undecided</sharing_ipd>
  </patient_data>
  <!-- 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/NCT03285425
org study id: IRB16-00554
nct id: NCT03285425
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills
      with motor delay, visual loss, seizures and ataxia. The investigators propose a natural
      history study of this rare disorder since it is currently unknown. It is important to
      understand disease progression in CLN6 disease to be able to judge therapeutic efficacy as
      emerging therapies like gene therapy become available.
Neuronal Ceroid Lipofuscinosis (NCL) is the most common childhood neurodegenerative disorder
      characterized by accumulation of autofluorescent waxy lipopigments in the brain and other
      tissues. The symptoms manifest as blindness, seizures, ataxia, myoclonus and loss of
      milestones or dementia. This group of disorders caused by an intracellular accumulation of
      lipopigment (ceroid lipofuscin) material leads to neuronal death and is the most prevalent
      class of childhood neurodegenerative disease.

      There are 14 types of NCL with 13 genotypes. Most of these are autosomal recessive. Neuronal
      ceroid lipofuscinosis, type 6 usually present like a late infantile NCL (CLN2) but can also
      present at as a juvenile onset (Mole). The natural history is not well established and the
      presentation maybe variable. There are currently no published data on the disease progression
      of children with CLN6 disease

      CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills
      with motor delay, visual loss, seizures and ataxia. The investigators propose a natural
      history study of this rare disorder since it is currently unknown. Although there are
      descriptions of the clinical spectrum, the natural history has not been well described. It is
      important to understand disease progression in CLN6 disease to be able to judge therapeutic
      efficacy for as emerging therapies like gene therapy become available. The investigators will
      identify children with a genotypic diagnosis of CLN6 who are consulting Nationwide Children's
      hospital. The investigators will also recruit patients through family conferences of Batten's
      disease Support and Research association. The investigators propose a retro prospective chart
      review and longitudinal phone follow-up of with diagnosis of CLN6 to understand the onset and
      progression of this disease.

      CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills
      with motor delay, visual loss, seizures and ataxia. The investigators propose a natural
      history study of this rare disorder since it is currently unknown. Although there are
      descriptions of the clinical spectrum, the natural history has not been well described. It is
      important to understand disease progression in CLN6 disease to be able to judge therapeutic
      efficacy for as emerging therapies like gene therapy become available. The investigators will
      identify children with a genotypic diagnosis of CLN6 who are consulting Nationwide Children's
      hospital. Patients will also be recruited through family conferences of Batten's disease
      Support and Research association.

      OBJECTIVES:

      The primary objectives of this study include the following:

        1. Assess the natural history of CLN6 by performing a prospective, longitudinal chart
           review and phone follow-up of patients who have a diagnosis of Batten's disease, with a
           specific genotype of CLN6.

        2. To promote better understanding of this disease to compare therapeutic efficacy with
           emerging therapies
observational model: Cohort
time perspective: Retrospective
measure: Natural history of disease progression
time frame: Three years
description: The investigators will assess historical data for the onset of seizures, blindness, dementia, and loss of motor skills; and will request any available MRIs and EEGs.
intervention type: Other
intervention name: Natural history
description: Parent interview
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 2 Years
maximum age: 25 Years
healthy volunteers: No
last name: Ashley M. Falke, BHS
phone: (614) 722-4644
email: ashley.falke@nationwidechildrens.org
facility: 
status: Recruiting
contact: 
contact backup: 
country: United States
citation: Schulz A, Kohlschutter A, Mink J, Simonati A, Williams R. NCL diseases - clinical perspectives. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17.
PMID: 23602993
citation: Canafoglia L, Gilioli I, Invernizzi F, Sofia V, Fugnanesi V, Morbin M, Chiapparini L, Granata T, Binelli S, Scaioli V, Garavaglia B, Nardocci N, Berkovic SF, Franceschetti S. Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations. Neurology. 2015 Jul 28;85(4):316-24. doi: 10.1212/WNL.0000000000001784. Epub 2015 Jun 26.
PMID: 26115733
citation: Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. Hum Mutat. 2003 Jul;22(1):35-42. doi: 10.1002/humu.10227.
PMID: 12815591
citation: Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet. 2002 Feb;70(2):324-35. doi: 10.1086/338190. Epub 2001 Dec 21.
PMID: 11791207
responsible party type: Sponsor-Investigator
investigator affiliation: Nationwide Children's Hospital
investigator full name: Emily de los Reyes
investigator title: Principal Investigator
mesh term: Neuronal Ceroid-Lipofuscinoses
sharing ipd: Undecided