<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/NCT01671865</url>
  </required_header>
  <id_info>
    <org_study_id>NA_00065256</org_study_id>
    <nct_id>NCT01671865</nct_id>
  </id_info>
  <brief_title>Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy</brief_title>
  <official_title>Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Hugo W. Moser Research Institute at Kennedy Krieger, Inc.</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Hugo W. Moser Research Institute at Kennedy Krieger, Inc.</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>
      The purpose of this research study is to identify and study changes in muscle in people with&#xD;
      facioscapulohumeral muscular dystrophy using magnetic resonance imaging and spectroscopy.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      This research study is being done to study changes in muscle imaging over time in people with&#xD;
      facioscapulohumeral muscular dystrophy (FSHD). Whole-body magnetic resonance imaging (MRI)&#xD;
      and magnetic resonance spectroscopy (MRS) will be used to evaluate skeletal muscle in study&#xD;
      participants. This research is being done to assess how changes in muscle imaging correspond&#xD;
      to muscle strength and function. Qualified participants will be asked to complete 5 study&#xD;
      visits over 21 months. Each visit will include muscle strength and function testing in&#xD;
      addition to the MRI/MRS scan. The investigators plan to use MRI and MRS in developing outcome&#xD;
      measures that can be used in future clinical trials for FSHD.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Active, not recruiting</overall_status>
  <start_date type="Actual">March 2012</start_date>
  <completion_date type="Anticipated">June 2024</completion_date>
  <primary_completion_date type="Anticipated">June 2024</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>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Intramuscular fat infiltration on MRI</measure>
    <time_frame>Baseline, 3 months, 9 months, 15 months, and 21 months</time_frame>
    <description>Intramuscular fat infiltration on MRI</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Intramuscular edema on MRI</measure>
    <time_frame>Baseline, 3 months, 9 months, 15 months, and 21 months</time_frame>
    <description>Intramuscular edema on MRI</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Muscle strength testing</measure>
    <time_frame>Baseline, 3 months, 9 months, 15 months, and 21 months</time_frame>
    <description>Muscle strength testing</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Timed function testing</measure>
    <time_frame>Baseline, 3 months, 9 months, 15 months, and 21 months</time_frame>
    <description>Timed function testing</description>
  </secondary_outcome>
  <enrollment type="Anticipated">75</enrollment>
  <condition>Facioscapulohumeral Muscular Dystrophy</condition>
  <eligibility>
    <study_pop>
      <textblock>
        This study will include people with facioscapulohumeral muscular dystrophy confirmed&#xD;
        through genetic testing.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Ability to give written informed consent for study participation (a parent or guardian&#xD;
             will be asked to provide informed consent for participants younger than 18 years old)&#xD;
&#xD;
          -  Confirmed diagnosis of FSHD through genetic testing (participants will be asked to&#xD;
             provide copies of genetic testing results)&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Any contraindication to MRI scanning&#xD;
&#xD;
          -  Inability to complete a physical examination, including strength measurements&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>12 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Doris G Leung, MD, PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Hugo W. Moser Research Institute at Kennedy Krieger, Inc.</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Doris Leung</name>
      <address>
        <city>Baltimore</city>
        <state>Maryland</state>
        <zip>21205</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <link>
    <url>https://www.kennedykrieger.org/patient-care/patient-care-centers/center-genetic-muscle-disorders</url>
    <description>Kennedy Krieger Institute Center for Genetic Muscle Disorders</description>
  </link>
  <reference>
    <citation>Leung DG. Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review. J Neurol. 2017 Jul;264(7):1320-1333. doi: 10.1007/s00415-016-8350-6. Epub 2016 Nov 25.</citation>
    <PMID>27888415</PMID>
  </reference>
  <results_reference>
    <citation>Leung DG, Carrino JA, Wagner KR, Jacobs MA. Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy. Muscle Nerve. 2015 Oct;52(4):512-20. doi: 10.1002/mus.24569. Epub 2015 Mar 31.</citation>
    <PMID>25641525</PMID>
  </results_reference>
  <results_reference>
    <citation>Leung DG, Wang X, Barker PB, Carrino JA, Wagner KR. Multivoxel proton magnetic resonance spectroscopy in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2018 Jun;57(6):958-963. doi: 10.1002/mus.26048. Epub 2018 Feb 14.</citation>
    <PMID>29266323</PMID>
  </results_reference>
  <verification_date>August 2023</verification_date>
  <study_first_submitted>August 21, 2012</study_first_submitted>
  <study_first_submitted_qc>August 23, 2012</study_first_submitted_qc>
  <study_first_posted type="Estimate">August 24, 2012</study_first_posted>
  <last_update_submitted>August 21, 2023</last_update_submitted>
  <last_update_submitted_qc>August 21, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">August 22, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>FSHD</keyword>
  <keyword>magnetic resonance imaging</keyword>
  <keyword>magnetic resonance spectroscopy</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Muscular Dystrophies</mesh_term>
    <mesh_term>Muscular Dystrophy, Facioscapulohumeral</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>No</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/NCT01671865
org study id: NA_00065256
nct id: NCT01671865
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
The purpose of this research study is to identify and study changes in muscle in people with
      facioscapulohumeral muscular dystrophy using magnetic resonance imaging and spectroscopy.
This research study is being done to study changes in muscle imaging over time in people with
      facioscapulohumeral muscular dystrophy (FSHD). Whole-body magnetic resonance imaging (MRI)
      and magnetic resonance spectroscopy (MRS) will be used to evaluate skeletal muscle in study
      participants. This research is being done to assess how changes in muscle imaging correspond
      to muscle strength and function. Qualified participants will be asked to complete 5 study
      visits over 21 months. Each visit will include muscle strength and function testing in
      addition to the MRI/MRS scan. The investigators plan to use MRI and MRS in developing outcome
      measures that can be used in future clinical trials for FSHD.
observational model: Cohort
time perspective: Prospective
measure: Intramuscular fat infiltration on MRI
time frame: Baseline, 3 months, 9 months, 15 months, and 21 months
description: Intramuscular fat infiltration on MRI
measure: Intramuscular edema on MRI
time frame: Baseline, 3 months, 9 months, 15 months, and 21 months
description: Intramuscular edema on MRI
measure: Muscle strength testing
time frame: Baseline, 3 months, 9 months, 15 months, and 21 months
description: Muscle strength testing
measure: Timed function testing
time frame: Baseline, 3 months, 9 months, 15 months, and 21 months
description: Timed function testing
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 12 Years
maximum age: N/A
healthy volunteers: No
last name: Doris G Leung, MD, PhD
role: Principal Investigator
affiliation: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
facility: 
country: United States
url: https://www.kennedykrieger.org/patient-care/patient-care-centers/center-genetic-muscle-disorders
description: Kennedy Krieger Institute Center for Genetic Muscle Disorders
citation: Leung DG. Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review. J Neurol. 2017 Jul;264(7):1320-1333. doi: 10.1007/s00415-016-8350-6. Epub 2016 Nov 25.
PMID: 27888415
citation: Leung DG, Carrino JA, Wagner KR, Jacobs MA. Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy. Muscle Nerve. 2015 Oct;52(4):512-20. doi: 10.1002/mus.24569. Epub 2015 Mar 31.
PMID: 25641525
citation: Leung DG, Wang X, Barker PB, Carrino JA, Wagner KR. Multivoxel proton magnetic resonance spectroscopy in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2018 Jun;57(6):958-963. doi: 10.1002/mus.26048. Epub 2018 Feb 14.
PMID: 29266323
responsible party type: Sponsor
mesh term: Muscular Dystrophies
mesh term: Muscular Dystrophy, Facioscapulohumeral
sharing ipd: No