<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/NCT02231697</url>
  </required_header>
  <id_info>
    <org_study_id>ATX-MTM-001 RECENSUS</org_study_id>
    <nct_id>NCT02231697</nct_id>
  </id_info>
  <brief_title>A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)</brief_title>
  <official_title>The RECENSUS Study: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Astellas Gene Therapies</agency>
      <agency_class>Industry</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Astellas Pharma Inc</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      This retrospective medical chart review (RECENSUS) of approximately 100 XLMTM patients (with&#xD;
      a goal to obtain 50 deceased and 20 living records) will provide further knowledge about the&#xD;
      clinical manifestations and recorded medical management of XLMTM and potentially inform the&#xD;
      design of future therapeutic intervention studies.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date>September 2014</start_date>
  <completion_date type="Actual">December 2019</completion_date>
  <primary_completion_date type="Actual">December 2019</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Other</observational_model>
    <time_perspective>Retrospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Survival</measure>
    <time_frame>Lifetime, up to 50 years</time_frame>
    <description>Descriptive statistics: mean, median, range for age at death for deceased patients, mean, median, range for current age for living patients</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Age at diagnosis</measure>
    <time_frame>Lifetime, up to 50 years</time_frame>
    <description>Descriptive statistics: mean, median, range for age of definitive diagnosis</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Age at tracheostomy (if applicable)</measure>
    <time_frame>Lifetime, up to 50 years</time_frame>
    <description>Descriptive statistics: mean, median, range for number of patients requiring tracheostomy (if applicable) and average age at tracheostomy</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Age at need for/type of ventilation (if applicable)</measure>
    <time_frame>Lifetime, up to 50 years</time_frame>
    <description>Descriptive statistics: mean, median, range for number of patients requiring ventilation (if applicable) and type of ventilation</description>
  </secondary_outcome>
  <number_of_groups>2</number_of_groups>
  <enrollment type="Actual">161</enrollment>
  <condition>Males With X-linked Myotubular Myopathy (XLMTM)</condition>
  <arm_group>
    <arm_group_label>XLMTM patients - deceased</arm_group_label>
    <description>Non-interventional, retrospective medical chart review</description>
  </arm_group>
  <arm_group>
    <arm_group_label>XLMTM patients - living</arm_group_label>
    <description>Non-interventional, retrospective medical chart review</description>
  </arm_group>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Non-interventional, retrospective medical chart review</intervention_name>
    <description>Non-interventional, retrospective medical chart review</description>
    <arm_group_label>XLMTM patients - deceased</arm_group_label>
    <arm_group_label>XLMTM patients - living</arm_group_label>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        Males with X-linked myotubular myopathy&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Patient diagnosed with XLMTM resulting from a confirmed mutation in the MTM1 gene, or&#xD;
             a combination of XLMTM genetically confirmed family history and muscle biopsy&#xD;
&#xD;
          -  Patient is male&#xD;
&#xD;
          -  Access to available medical records for each patient&#xD;
&#xD;
          -  Signed informed consent by the parent(s) or legal guardians and/or assent by the&#xD;
             patient (when applicable), unless the associated IRB provides an appropriate consent&#xD;
             waiver&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Patient data after participation in an interventional study designed to treat XLMTM&#xD;
             (patient data prior to participation in an interventional study may be included)&#xD;
      </textblock>
    </criteria>
    <gender>Male</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <location>
    <facility>
      <name>Cure CMD</name>
      <address>
        <city>San Pedro</city>
        <state>California</state>
        <zip>90732</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Children's Hospital Colorado</name>
      <address>
        <city>Aurora</city>
        <state>Colorado</state>
        <zip>80045</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>University of Florida - Gainesville, Children's Research Institute</name>
      <address>
        <city>Gainesville</city>
        <state>Florida</state>
        <zip>32610</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Lurie Children's Hospital</name>
      <address>
        <city>Chicago</city>
        <state>Illinois</state>
        <zip>60611</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Boston Children's Hospital</name>
      <address>
        <city>Boston</city>
        <state>Massachusetts</state>
        <zip>02115</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>The Children's Hospital of Philadelphia</name>
      <address>
        <city>Philadelphia</city>
        <state>Pennsylvania</state>
        <zip>19104</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Great Ormond Street Hospital</name>
      <address>
        <city>London</city>
        <country>United Kingdom</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Royal Manchester Children's Hospital</name>
      <address>
        <city>Manchester</city>
        <country>United Kingdom</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United Kingdom</country>
    <country>United States</country>
  </location_countries>
  <verification_date>July 2022</verification_date>
  <study_first_submitted>August 28, 2014</study_first_submitted>
  <study_first_submitted_qc>September 2, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">September 4, 2014</study_first_posted>
  <last_update_submitted>July 27, 2022</last_update_submitted>
  <last_update_submitted_qc>July 27, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">July 29, 2022</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>XLMTM</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Muscular Diseases</mesh_term>
    <mesh_term>Myopathies, Structural, Congenital</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/NCT02231697
org study id: ATX-MTM-001 RECENSUS
nct id: NCT02231697
lead sponsor: 
has dmc: No
This retrospective medical chart review (RECENSUS) of approximately 100 XLMTM patients (with
      a goal to obtain 50 deceased and 20 living records) will provide further knowledge about the
      clinical manifestations and recorded medical management of XLMTM and potentially inform the
      design of future therapeutic intervention studies.
observational model: Other
time perspective: Retrospective
measure: Survival
time frame: Lifetime, up to 50 years
description: Descriptive statistics: mean, median, range for age at death for deceased patients, mean, median, range for current age for living patients
measure: Age at diagnosis
time frame: Lifetime, up to 50 years
description: Descriptive statistics: mean, median, range for age of definitive diagnosis
measure: Age at tracheostomy (if applicable)
time frame: Lifetime, up to 50 years
description: Descriptive statistics: mean, median, range for number of patients requiring tracheostomy (if applicable) and average age at tracheostomy
measure: Age at need for/type of ventilation (if applicable)
time frame: Lifetime, up to 50 years
description: Descriptive statistics: mean, median, range for number of patients requiring ventilation (if applicable) and type of ventilation
arm group label: XLMTM patients - deceased
description: Non-interventional, retrospective medical chart review
arm group label: XLMTM patients - living
description: Non-interventional, retrospective medical chart review
intervention type: Other
intervention name: Non-interventional, retrospective medical chart review
description: Non-interventional, retrospective medical chart review
arm group label: XLMTM patients - deceased
arm group label: XLMTM patients - living
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: Male
minimum age: N/A
maximum age: N/A
healthy volunteers: No
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
country: United Kingdom
country: United States
responsible party type: Sponsor
mesh term: Muscular Diseases
mesh term: Myopathies, Structural, Congenital