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/NCT05989620</url>
    </required_header>
    <id_info>
      <org_study_id>HM20027839</org_study_id>
      <nct_id>NCT05989620</nct_id>
    </id_info>
    <brief_title>Long-Term Development of Muscular Dystrophy Outcome Assessments</brief_title>
    <acronym>GRASP-01-005</acronym>
    <official_title>Long-Term Development of Muscular Dystrophy Outcome Assessments (GRASP-01-005)</official_title>
    <sponsors>
      <lead_sponsor>
        <agency>Virginia Commonwealth University</agency>
        <agency_class>Other</agency_class>
      </lead_sponsor>
      <collaborator>
        <agency>GRASP LGMD Consortium</agency>
        <agency_class>Other</agency_class>
      </collaborator>
    </sponsors>
    <source>Virginia Commonwealth University</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>
        This is a 24-month, observational study of up to 1000 participants with Limb Girdle Muscular&#xD;
        Dystrophy (LGMD), Myotonic Dystrophy Type 2 (DM2), and late onset Pompe disease (LOPD).&#xD;
      </textblock>
    </brief_summary>
    <detailed_description>
      <textblock>
        Limb Girdle Muscular Dystrophy (LGMD) comprise a group of disorders made up of over 30&#xD;
        mutations which share a common phenotype of progressive weakness of the shoulder and hip&#xD;
        girdle muscles. While the individual genetic mutations are rare, as a cohort, LGMDs are one&#xD;
        of the four most common muscular dystrophies.&#xD;
  &#xD;
        Myotonic Dystrophy Type 2 (DM2) is a more recently discovered, rare type of myotonic&#xD;
        dystrophy. DM2 is inherited in an autosomal dominant pattern and is caused by an unstable&#xD;
        CCTG expansion. DM2 affects the muscles and other body systems (e.g. heart and eyes).&#xD;
  &#xD;
        Pompe disease is a rare, multisystemic, hereditary disease which is caused by pathogenic&#xD;
        variations in the GAA gene. Late onset Pompe disease (LOPD) refers to cases in which&#xD;
        hypertrophic cardiomyopathy did not manifest or was not diagnosed at or under the age of 1&#xD;
        year. LOPD is characterized by skeletal muscle weakness which causes mobility problems and&#xD;
        impacts the respiratory system.&#xD;
  &#xD;
        The overall goal of this project is to extend prior observational studies conducted within&#xD;
        the GRASP LGMD network to define the key phenotypes as measured by standard clinical outcome&#xD;
        assessments (COAs) for multiple rare types of muscular dystrophy to hasten therapeutic&#xD;
        development.&#xD;
      </textblock>
    </detailed_description>
    <overall_status>Not yet recruiting</overall_status>
    <start_date type="Anticipated">October 1, 2023</start_date>
    <completion_date type="Anticipated">May 1, 2029</completion_date>
    <primary_completion_date type="Anticipated">October 1, 2028</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>To explore the suitability and feasibility of the North Star Assessment for LGMD (NSAD) in the muscular dystrophies</measure>
      <time_frame>Baseline to 24 months</time_frame>
      <description>The NSAD is a functional scale specifically designed to measure motor performance in individuals with LGMD. It consists of 29 items that are considered clinically relevant items from the adapted North Star Ambulatory Assessment and the Motor Function Measure 20 with a maximum score of 54.</description>
    </primary_outcome>
    <secondary_outcome>
      <measure>To explore the utility of the 100 meter timed test as a clinical outcome assessment in the muscular dystrophies</measure>
      <time_frame>Baseline to 24 months</time_frame>
      <description>The participant will be asked to complete 4 laps around 2 cones set 25 meters apart, as quickly and safely as possible, walking or running if able. The total time to complete the 4 laps is recorded in seconds.</description>
    </secondary_outcome>
    <secondary_outcome>
      <measure>To explore the utility of the Performance of the Upper Limb 2.0 (PUL 2.0) assessment as a clinical outcome assessment in the muscular dystrophies</measure>
      <time_frame>Baseline to 24 months</time_frame>
      <description>The PUL 2.0 is a tool designed for assessing upper limb function in persons with neuromuscular disorders. It was developed as a conceptual framework reflecting the progression of weakness and natural history of functional decline in Duchenne Muscular Dystrophy (DMD). There are 22 scored items; a score of 42 indicates the highest level of independent function and 0 the lowest.</description>
    </secondary_outcome>
    <secondary_outcome>
      <measure>To explore the utility of spirometry as a clinical outcome assessment in the muscular dystrophies</measure>
      <time_frame>Baseline to 24 months</time_frame>
      <description>Spirometry is a breathing assessment comprised of: seated and supine forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), and slow vital capacity (SVC). This assessment is performed using standardized equipment.</description>
    </secondary_outcome>
    <secondary_outcome>
      <measure>To explore the utility of the LGMD-HI questionnaire as a patient-reported outcome measure in the muscular dystrophies.</measure>
      <time_frame>Baseline to 24 months</time_frame>
      <description>The LGMD Health Index (LGMD-HI) is a disease-specific, patient-reported measure that assesses overall health-related quality of life in LGMD.</description>
    </secondary_outcome>
    <secondary_outcome>
      <measure>To explore the utility of the PROMIS-57 as a patient-reported outcome measure in the muscular dystrophies.</measure>
      <time_frame>Baseline to 24 months</time_frame>
      <description>The PROMIS-57 is a set of patient-reported measures developed by the NIH. The social health set of questions evaluates general social health by assessing ability to participate in social roles and activities, companionship, satisfaction with social roles and activities, social isolation, and social support.&#xD;
  The mental health set evaluates general mental health by assessing anxiety, depression, alcohol use, anger, cognitive function, life satisfaction, meaning and purpose, positive affect, psychosocial illness impact, self-efficacy for managing chronic conditions, smoking, and substance use.&#xD;
  The physical health set evaluates general physical health by assessing fatigue, pain intensity, pain interference, physical function, sleep disturbance, dyspnea, gastrointestinal symptoms, itch, pain behavior, pain quality, sexual function, and sleep related impairment.</description>
    </secondary_outcome>
    <secondary_outcome>
      <measure>To explore the utility of the Domain Delta as a patient-reported outcome measure in the muscular dystrophies</measure>
      <time_frame>Baseline to 24 months</time_frame>
      <description>The Domain Delta questionnaire is a patient-reported outcome measure that assesses overall health over the previous 12 months.</description>
    </secondary_outcome>
    <number_of_groups>1</number_of_groups>
    <enrollment type="Anticipated">1000</enrollment>
    <condition>LGMD1A</condition>
    <condition>LGMD1B</condition>
    <condition>LGMD1C</condition>
    <condition>LGMD1D</condition>
    <condition>LGMD1E</condition>
    <condition>LGMD1F</condition>
    <condition>LGMD1G</condition>
    <condition>LGMD1H</condition>
    <condition>LGMD2A</condition>
    <condition>LGMD2B</condition>
    <condition>LGMD2C</condition>
    <condition>LGMD2D</condition>
    <condition>LGMD2E</condition>
    <condition>LGMD2F</condition>
    <condition>LGMD2G</condition>
    <condition>LGMD2I</condition>
    <condition>LGMD2J</condition>
    <condition>LGMD2K</condition>
    <condition>LGMD2L</condition>
    <condition>LGMD2M</condition>
    <condition>LGMD2N</condition>
    <condition>LGMD2O</condition>
    <condition>LGMD2P</condition>
    <condition>LGMD2Q</condition>
    <condition>LGMD2R</condition>
    <condition>LGMD2S</condition>
    <condition>LGMD2T</condition>
    <condition>LGMD2U</condition>
    <condition>LGMD2V</condition>
    <condition>LGMD2W</condition>
    <condition>LGMD2X</condition>
    <condition>LGMD2Y</condition>
    <condition>LOPD - Late Onset Pompe Disease</condition>
    <condition>DM2 - Myotonic Dystrophy Type 2</condition>
    <arm_group>
      <arm_group_label>LGMD, DM2, LOPD</arm_group_label>
    </arm_group>
    <biospec_retention>Samples With DNA</biospec_retention>
    <biospec_descr>
      <textblock>
        Blood samples will be collected for biomarker development and retained for future research.&#xD;
        No clinical diagnosis will be given to patients as part of this study.&#xD;
      </textblock>
    </biospec_descr>
    <eligibility>
      <study_pop>
        <textblock>
          The study seeks to enroll ambulatory individuals aged 6-50 years at enrollment who are&#xD;
          clinically affected by LGMD, DM2, or LOPD.&#xD;
        </textblock>
      </study_pop>
      <sampling_method>Non-Probability Sample</sampling_method>
      <criteria>
        <textblock>
          Inclusion Criteria:&#xD;
  &#xD;
            1. Age between 6-50 years at enrollment&#xD;
  &#xD;
            2. Clinically affected (defined as weakness on bedside evaluation in a pattern consistent&#xD;
               with proximal weakness)&#xD;
  &#xD;
            3. Genetic confirmation of a LGMD, DM2, or LOPD&#xD;
  &#xD;
            4. FVC above 30% of predicted&#xD;
  &#xD;
          Exclusion Criteria:&#xD;
  &#xD;
            1. Any other illness that would interfere with the ability to undergo safe testing or&#xD;
               would interfere with interpretation of the results in the opinion of the site&#xD;
               investigator&#xD;
  &#xD;
            2. Participation in a clinical trial receiving an investigational product&#xD;
        </textblock>
      </criteria>
      <gender>All</gender>
      <minimum_age>6 Years</minimum_age>
      <maximum_age>50 Years</maximum_age>
    </eligibility>
    <overall_official>
      <last_name>Nicholas Johnson, MD</last_name>
      <role>Principal Investigator</role>
      <affiliation>Virginia Commonwealth University</affiliation>
    </overall_official>
    <overall_contact>
      <last_name>Jennifer Raymond</last_name>
      <phone>804-828-6318</phone>
      <email>Jennifer.Raymond@vcuhealth.org</email>
    </overall_contact>
    <overall_contact_backup>
      <last_name>Ruby Langeslay</last_name>
      <email>Ruby.Langeslay@vcuhealth.org</email>
    </overall_contact_backup>
    <location>
      <facility>
        <name>Virginia Commonwealth University</name>
        <address>
          <city>Richmond</city>
          <state>Virginia</state>
          <zip>23298</zip>
          <country>United States</country>
        </address>
      </facility>
      <contact>
        <last_name>Anarosa Rezeq</last_name>
        <email>anarosa.rezeq@vcuhealth.org</email>
      </contact>
      <investigator>
        <last_name>Nicholas Johnson, MD</last_name>
        <role>Principal Investigator</role>
      </investigator>
    </location>
    <location_countries>
      <country>United States</country>
    </location_countries>
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      <citation>Pozsgai ER, Griffin DA, Heller KN, Mendell JR, Rodino-Klapac LR. Systemic AAV-Mediated beta-Sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorates Histological and Functional Deficits in LGMD2E Mice. Mol Ther. 2017 Apr 5;25(4):855-869. doi: 10.1016/j.ymthe.2017.02.013. Epub 2017 Mar 9.</citation>
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      <citation>Pane M, Coratti G, Brogna C, Mazzone ES, Mayhew A, Fanelli L, Messina S, D'Amico A, Catteruccia M, Scutifero M, Frosini S, Lanzillotta V, Colia G, Cavallaro F, Rolle E, De Sanctis R, Forcina N, Petillo R, Barp A, Gardani A, Pini A, Monaco G, D'Angelo MG, Zanin R, Vita GL, Bruno C, Mongini T, Ricci F, Pegoraro E, Bello L, Berardinelli A, Battini R, Sansone V, Albamonte E, Baranello G, Bertini E, Politano L, Sormani MP, Mercuri E. Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data. PLoS One. 2018 Jun 20;13(6):e0199223. doi: 10.1371/journal.pone.0199223. eCollection 2018.</citation>
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    <verification_date>August 2023</verification_date>
    <study_first_submitted>August 2, 2023</study_first_submitted>
    <study_first_submitted_qc>August 3, 2023</study_first_submitted_qc>
    <study_first_posted type="Actual">August 14, 2023</study_first_posted>
    <last_update_submitted>August 3, 2023</last_update_submitted>
    <last_update_submitted_qc>August 3, 2023</last_update_submitted_qc>
    <last_update_posted type="Actual">August 14, 2023</last_update_posted>
    <responsible_party>
      <responsible_party_type>Sponsor</responsible_party_type>
    </responsible_party>
    <keyword>Muscular Dystrophy</keyword>
    <keyword>Myotonic Dystrophy</keyword>
    <keyword>Limb Girdle Muscular Dystrophy</keyword>
    <keyword>LGMD</keyword>
    <keyword>LOPD</keyword>
    <keyword>Late Onset Pompe Disease</keyword>
    <condition_browse>
      <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
      <mesh_term>Muscular Dystrophies</mesh_term>
      <mesh_term>Myotonic Dystrophy</mesh_term>
      <mesh_term>Glycogen Storage Disease Type II</mesh_term>
    </condition_browse>
    <patient_data>
      <sharing_ipd>No</sharing_ipd>
      <ipd_description>Aggregated and deidentified data will be shared with qualified investigators upon majority approval of the LGMD investigators.</ipd_description>
    </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/NCT05989620
  org study id: HM20027839
  nct id: NCT05989620
  lead sponsor: 
  collaborator: 
  has dmc: Yes
  is fda regulated drug: No
  is fda regulated device: No
  This is a 24-month, observational study of up to 1000 participants with Limb Girdle Muscular
        Dystrophy (LGMD), Myotonic Dystrophy Type 2 (DM2), and late onset Pompe disease (LOPD).
  Limb Girdle Muscular Dystrophy (LGMD) comprise a group of disorders made up of over 30
        mutations which share a common phenotype of progressive weakness of the shoulder and hip
        girdle muscles. While the individual genetic mutations are rare, as a cohort, LGMDs are one
        of the four most common muscular dystrophies.
  
        Myotonic Dystrophy Type 2 (DM2) is a more recently discovered, rare type of myotonic
        dystrophy. DM2 is inherited in an autosomal dominant pattern and is caused by an unstable
        CCTG expansion. DM2 affects the muscles and other body systems (e.g. heart and eyes).
  
        Pompe disease is a rare, multisystemic, hereditary disease which is caused by pathogenic
        variations in the GAA gene. Late onset Pompe disease (LOPD) refers to cases in which
        hypertrophic cardiomyopathy did not manifest or was not diagnosed at or under the age of 1
        year. LOPD is characterized by skeletal muscle weakness which causes mobility problems and
        impacts the respiratory system.
  
        The overall goal of this project is to extend prior observational studies conducted within
        the GRASP LGMD network to define the key phenotypes as measured by standard clinical outcome
        assessments (COAs) for multiple rare types of muscular dystrophy to hasten therapeutic
        development.
  observational model: Cohort
  time perspective: Other
  measure: To explore the suitability and feasibility of the North Star Assessment for LGMD (NSAD) in the muscular dystrophies
  time frame: Baseline to 24 months
  description: The NSAD is a functional scale specifically designed to measure motor performance in individuals with LGMD. It consists of 29 items that are considered clinically relevant items from the adapted North Star Ambulatory Assessment and the Motor Function Measure 20 with a maximum score of 54.
  measure: To explore the utility of the 100 meter timed test as a clinical outcome assessment in the muscular dystrophies
  time frame: Baseline to 24 months
  description: The participant will be asked to complete 4 laps around 2 cones set 25 meters apart, as quickly and safely as possible, walking or running if able. The total time to complete the 4 laps is recorded in seconds.
  measure: To explore the utility of the Performance of the Upper Limb 2.0 (PUL 2.0) assessment as a clinical outcome assessment in the muscular dystrophies
  time frame: Baseline to 24 months
  description: The PUL 2.0 is a tool designed for assessing upper limb function in persons with neuromuscular disorders. It was developed as a conceptual framework reflecting the progression of weakness and natural history of functional decline in Duchenne Muscular Dystrophy (DMD). There are 22 scored items; a score of 42 indicates the highest level of independent function and 0 the lowest.
  measure: To explore the utility of spirometry as a clinical outcome assessment in the muscular dystrophies
  time frame: Baseline to 24 months
  description: Spirometry is a breathing assessment comprised of: seated and supine forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), and slow vital capacity (SVC). This assessment is performed using standardized equipment.
  measure: To explore the utility of the LGMD-HI questionnaire as a patient-reported outcome measure in the muscular dystrophies.
  time frame: Baseline to 24 months
  description: The LGMD Health Index (LGMD-HI) is a disease-specific, patient-reported measure that assesses overall health-related quality of life in LGMD.
  measure: To explore the utility of the PROMIS-57 as a patient-reported outcome measure in the muscular dystrophies.
  time frame: Baseline to 24 months
  description: The PROMIS-57 is a set of patient-reported measures developed by the NIH. The social health set of questions evaluates general social health by assessing ability to participate in social roles and activities, companionship, satisfaction with social roles and activities, social isolation, and social support.
  The mental health set evaluates general mental health by assessing anxiety, depression, alcohol use, anger, cognitive function, life satisfaction, meaning and purpose, positive affect, psychosocial illness impact, self-efficacy for managing chronic conditions, smoking, and substance use.
  The physical health set evaluates general physical health by assessing fatigue, pain intensity, pain interference, physical function, sleep disturbance, dyspnea, gastrointestinal symptoms, itch, pain behavior, pain quality, sexual function, and sleep related impairment.
  measure: To explore the utility of the Domain Delta as a patient-reported outcome measure in the muscular dystrophies
  time frame: Baseline to 24 months
  description: The Domain Delta questionnaire is a patient-reported outcome measure that assesses overall health over the previous 12 months.
  arm group label: LGMD, DM2, LOPD
  Blood samples will be collected for biomarker development and retained for future research.
        No clinical diagnosis will be given to patients as part of this study.
  study pop: 
  sampling method: Non-Probability Sample
  criteria: 
  gender: All
  minimum age: 6 Years
  maximum age: 50 Years
  last name: Nicholas Johnson, MD
  role: Principal Investigator
  affiliation: Virginia Commonwealth University
  last name: Jennifer Raymond
  phone: 804-828-6318
  email: Jennifer.Raymond@vcuhealth.org
  last name: Ruby Langeslay
  email: Ruby.Langeslay@vcuhealth.org
  facility: 
  contact: 
  investigator: 
  country: United States
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  responsible party type: Sponsor
  mesh term: Muscular Dystrophies
  mesh term: Myotonic Dystrophy
  mesh term: Glycogen Storage Disease Type II
  sharing ipd: No
  ipd description: Aggregated and deidentified data will be shared with qualified investigators upon majority approval of the LGMD investigators.