xml: <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/NCT06025903</url>
    </required_header>
    <id_info>
      <org_study_id>MitoMS_GR-2019-12368672</org_study_id>
      <nct_id>NCT06025903</nct_id>
    </id_info>
    <brief_title>Assessing the Role of Mitochondrial Dysfunction in Primary Progressive Multiple Sclerosis</brief_title>
    <official_title>Assessing the Role of Mitochondrial Dysfunction in Primary Progressive Multiple Sclerosis</official_title>
    <sponsors>
      <lead_sponsor>
        <agency>IRCCS San Raffaele</agency>
        <agency_class>Other</agency_class>
      </lead_sponsor>
      <collaborator>
        <agency>Azienda Socio Sanitaria Territoriale della Valle Olona</agency>
        <agency_class>Other</agency_class>
      </collaborator>
    </sponsors>
    <source>IRCCS San Raffaele</source>
    <oversight_info>
      <has_dmc>Yes</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>
        The purpose of this project is to study genetic determinants of mitochondrial impairment in&#xD;
        primary progressive multiple sclerosis. Specific aims are: 1) identify mitochondrial-related&#xD;
        pathways, inherited and somatic mitochondrial DNA mutations associated to primary progressive&#xD;
        multiple sclerosis, 2) functionally assess the identified genetic alterations.&#xD;
      </textblock>
    </brief_summary>
    <detailed_description>
      <textblock>
        Multiple Sclerosis is a major cause of neurological disability, with a high socio-economic&#xD;
        impact that increases as disability progresses. Effective treatment of primary progressive&#xD;
        multiple sclerosis is still an unmet need and the underlying neurodegenerative processes have&#xD;
        to be fully investigated. The purpose of this project is to study genetic determinants of&#xD;
        mitochondrial impairment in primary progressive multiple sclerosis. We will search for&#xD;
        altered mitochondrial pathways, as well as inherited and tissue-specific somatic&#xD;
        mitochondrial variations associated with primary progressive multiple sclerosis.&#xD;
      </textblock>
    </detailed_description>
    <overall_status>Recruiting</overall_status>
    <start_date type="Actual">September 20, 2021</start_date>
    <completion_date type="Anticipated">May 30, 2025</completion_date>
    <primary_completion_date type="Anticipated">December 31, 2023</primary_completion_date>
    <study_type>Observational</study_type>
    <has_expanded_access>No</has_expanded_access>
    <study_design_info>
      <observational_model>Case-Control</observational_model>
      <time_perspective>Prospective</time_perspective>
    </study_design_info>
    <primary_outcome>
      <measure>sequencing of mitochondrial DNA</measure>
      <time_frame>3 years</time_frame>
      <description>the mitochondrial DNA collected from blood and cerebrospinal fluid will be sequenced and analysed, comparing the frequency of variants between the two disease courses</description>
    </primary_outcome>
    <number_of_groups>2</number_of_groups>
    <enrollment type="Anticipated">140</enrollment>
    <condition>Multiple Sclerosis</condition>
    <arm_group>
      <arm_group_label>Primary Progressive multiple sclerosis</arm_group_label>
      <description>patients affected by primary progressive multiple sclerosis</description>
    </arm_group>
    <arm_group>
      <arm_group_label>Relapsing Remitting multiple sclerosis</arm_group_label>
      <description>patients affected by primary progressive multiple sclerosis</description>
    </arm_group>
    <biospec_retention>Samples With DNA</biospec_retention>
    <biospec_descr>
      <textblock>
        Blood and cerebrospinal fluid&#xD;
      </textblock>
    </biospec_descr>
    <eligibility>
      <study_pop>
        <textblock>
          patients will be recruited from primary care clinic&#xD;
        </textblock>
      </study_pop>
      <sampling_method>Probability Sample</sampling_method>
      <criteria>
        <textblock>
          Inclusion Criteria:&#xD;
  &#xD;
            -  Patients affected by primary progressive or relapsing remitting multiple sclerosis&#xD;
  &#xD;
            -  Patient able to provide informed consent&#xD;
  &#xD;
          Exclusion Criteria:&#xD;
  &#xD;
            -  Individuals with &lt; 18 years&#xD;
  &#xD;
            -  Patients not affected by primary progressive or relapsing remitting multiple sclerosis&#xD;
        </textblock>
      </criteria>
      <gender>All</gender>
      <minimum_age>18 Years</minimum_age>
      <maximum_age>N/A</maximum_age>
      <healthy_volunteers>No</healthy_volunteers>
    </eligibility>
    <overall_official>
      <last_name>Melissa Sorosina</last_name>
      <role>Principal Investigator</role>
      <affiliation>IRCCS San Raffaele</affiliation>
    </overall_official>
    <overall_contact>
      <last_name>Federica Esposito</last_name>
      <phone>0226437833</phone>
      <email>esposito.federica@hsr.it</email>
    </overall_contact>
    <location>
      <facility>
        <name>IRCCS San Raffaele</name>
        <address>
          <city>Milan</city>
          <state>MI</state>
          <zip>20132</zip>
          <country>Italy</country>
        </address>
      </facility>
      <status>Recruiting</status>
      <contact>
        <last_name>Federica Esposito</last_name>
        <email>esposito.federica@hsr.it</email>
      </contact>
    </location>
    <location>
      <facility>
        <name>ASST della Valle Olona - Ospedale di Gallarate</name>
        <address>
          <city>Gallarate</city>
          <state>VA</state>
          <zip>21013</zip>
          <country>Italy</country>
        </address>
      </facility>
      <status>Recruiting</status>
      <contact>
        <last_name>Clara Guaschino</last_name>
        <email>clara.guaschino@asst-valleolona.it</email>
      </contact>
    </location>
    <location_countries>
      <country>Italy</country>
    </location_countries>
    <verification_date>August 2023</verification_date>
    <study_first_submitted>August 29, 2023</study_first_submitted>
    <study_first_submitted_qc>August 29, 2023</study_first_submitted_qc>
    <study_first_posted type="Actual">September 6, 2023</study_first_posted>
    <last_update_submitted>August 29, 2023</last_update_submitted>
    <last_update_submitted_qc>August 29, 2023</last_update_submitted_qc>
    <last_update_posted type="Actual">September 6, 2023</last_update_posted>
    <responsible_party>
      <responsible_party_type>Principal Investigator</responsible_party_type>
      <investigator_affiliation>IRCCS San Raffaele</investigator_affiliation>
      <investigator_full_name>Melissa Sorosina</investigator_full_name>
      <investigator_title>PhD</investigator_title>
    </responsible_party>
    <keyword>multiple sclerosis</keyword>
    <keyword>mitochondria</keyword>
    <condition_browse>
      <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
      <mesh_term>Multiple Sclerosis</mesh_term>
      <mesh_term>Multiple Sclerosis, Chronic Progressive</mesh_term>
      <mesh_term>Sclerosis</mesh_term>
    </condition_browse>
    <patient_data>
      <sharing_ipd>No</sharing_ipd>
    </patient_data>
    <!-- Results have not yet been posted for this study                                          -->
  </clinical_study>
  
  
text: 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/NCT06025903
  org study id: MitoMS_GR-2019-12368672
  nct id: NCT06025903
  lead sponsor: 
  collaborator: 
  has dmc: Yes
  is fda regulated drug: No
  is fda regulated device: No
  The purpose of this project is to study genetic determinants of mitochondrial impairment in
        primary progressive multiple sclerosis. Specific aims are: 1) identify mitochondrial-related
        pathways, inherited and somatic mitochondrial DNA mutations associated to primary progressive
        multiple sclerosis, 2) functionally assess the identified genetic alterations.
  Multiple Sclerosis is a major cause of neurological disability, with a high socio-economic
        impact that increases as disability progresses. Effective treatment of primary progressive
        multiple sclerosis is still an unmet need and the underlying neurodegenerative processes have
        to be fully investigated. The purpose of this project is to study genetic determinants of
        mitochondrial impairment in primary progressive multiple sclerosis. We will search for
        altered mitochondrial pathways, as well as inherited and tissue-specific somatic
        mitochondrial variations associated with primary progressive multiple sclerosis.
  observational model: Case-Control
  time perspective: Prospective
  measure: sequencing of mitochondrial DNA
  time frame: 3 years
  description: the mitochondrial DNA collected from blood and cerebrospinal fluid will be sequenced and analysed, comparing the frequency of variants between the two disease courses
  arm group label: Primary Progressive multiple sclerosis
  description: patients affected by primary progressive multiple sclerosis
  arm group label: Relapsing Remitting multiple sclerosis
  description: patients affected by primary progressive multiple sclerosis
  Blood and cerebrospinal fluid
  study pop: 
  sampling method: Probability Sample
  criteria: 
  gender: All
  minimum age: 18 Years
  maximum age: N/A
  healthy volunteers: No
  last name: Melissa Sorosina
  role: Principal Investigator
  affiliation: IRCCS San Raffaele
  last name: Federica Esposito
  phone: 0226437833
  email: esposito.federica@hsr.it
  facility: 
  status: Recruiting
  contact: 
  facility: 
  status: Recruiting
  contact: 
  country: Italy
  responsible party type: Principal Investigator
  investigator affiliation: IRCCS San Raffaele
  investigator full name: Melissa Sorosina
  investigator title: PhD
  mesh term: Multiple Sclerosis
  mesh term: Multiple Sclerosis, Chronic Progressive
  mesh term: Sclerosis
  sharing ipd: No