<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/NCT02994030</url>
  </required_header>
  <id_info>
    <org_study_id>BDMD 6-2018</org_study_id>
    <nct_id>NCT02994030</nct_id>
  </id_info>
  <brief_title>Biomarker for Duchenne Muscular Dystrophy</brief_title>
  <acronym>BioDuchenne</acronym>
  <official_title>Biomarker for Duchenne Muscular Dystrophy: An International, Multicenter, Observational, Longitudinal Protocol</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>CENTOGENE GmbH Rostock</agency>
      <agency_class>Industry</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>CENTOGENE GmbH Rostock</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>
      International, multicenter, observational, longitudinal study to identify biomarker/s for&#xD;
      Duchenne Muscular Dystropy (DMD) and to explore the clinical robustness, specificity, and&#xD;
      long-term variability of these biomarker/s.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Duchenne Muscular Dystrophy (DMD) is a devastating inherited neuromuscular disorder that&#xD;
      affects 1 in 3300 live male births (females can be mildly affected carriers). DMD causes&#xD;
      progressive weakness and loss of muscle mass, with symptoms usually appearing in early&#xD;
      childhood. DMD arises from mutations in the DMD gene that codes for dystrophin.&#xD;
&#xD;
      The DMD gene is located on the short arm of chromosome X (locus Xp21) and codes for&#xD;
      dystrophin, containing 3685 amino acid residues. 60-65% of DMD mutations are large&#xD;
      dele-tions, 10-30% are nonsense and frame-shift mutations, 5-15% are duplications, and 2% are&#xD;
      intronic or 5'- and 3'-UTR alterations.Dystrophin aggregates as a homotetramer in the&#xD;
      skeletal muscles or associates with actin and Dystrophin-Associated Glycoproteins (DAGs),&#xD;
      forming a stable complex that interacts with laminin in the extracellular matrix. Dystrophin&#xD;
      is considered a key structural element in the muscle fiber, whose primary function is to&#xD;
      stabilize plasma mem-brane, while the DAGs maintain the sarcolemmal stability by mediating&#xD;
      the complex interactions of the muscle membrane and extracellular environment. The low levels&#xD;
      of dystrophin lead to cellular instability and progressive leakage of intracellular&#xD;
      components, explaining the characteristically high levels of creatine phosphokinase (CPK) in&#xD;
      the blood of DMD patients.&#xD;
&#xD;
      Biomarkers serve as measurable indicators of normal biological or pathological processes.&#xD;
      They are typically directly linked to genetic variants in specific genes and can predict,&#xD;
      diagnose, monitor, and assess the severity of a disease. It is the goal of this study to&#xD;
      identify, validate, and monitor biochemical markers from DMD affected participants.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">August 20, 2018</start_date>
  <completion_date type="Actual">March 11, 2022</completion_date>
  <primary_completion_date type="Actual">March 11, 2022</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>Identification of DMD biomarker/s</measure>
    <time_frame>36 weeks</time_frame>
    <description>All samples will be analyzed for the identification of biomarker/s via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Exploring the clinical robustness, specificity, and long-term variability of DMD biomarker/s</measure>
    <time_frame>36 months</time_frame>
    <description>Samples will be analyzed for the identified biomarker candidates via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.</description>
  </secondary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Actual">103</enrollment>
  <condition>Increased Lordosis/Scoliosis</condition>
  <condition>Hyporeflexia</condition>
  <condition>Duchenne Muscular Dystrophy</condition>
  <condition>Red-Green Color Blindness</condition>
  <condition>Lordosis</condition>
  <condition>Scoliosis</condition>
  <condition>Muscular Atrophy</condition>
  <condition>Muscular Weakness</condition>
  <arm_group>
    <arm_group_label>Participants with Duchenne Muscular Dystrophy (DMD)</arm_group_label>
    <description>Participants diagnosed with Duchenne Muscular Dystrophy (DMD) aged between 2 months and 50 years</description>
  </arm_group>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Participants with Duchenne Muscular Dystrophy (DMD)&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Probability Sample</sampling_method>
    <criteria>
      <textblock>
        INCLUSION CRITERIA&#xD;
&#xD;
          -  Informed consent is obtained from the parent/ legal guardian&#xD;
&#xD;
          -  The participant is aged between 2 months and 50 years&#xD;
&#xD;
          -  The diagnosis of DMD is genetically confirmed by CENTOGENE&#xD;
&#xD;
        EXCLUSION CRITERIA&#xD;
&#xD;
          -  Informed consent is not obtained from the parent/ legal guardian.&#xD;
&#xD;
          -  The participant is younger than 2 months or older than 50 years&#xD;
&#xD;
          -  The diagnosis of DMD is not genetically confirmed by CENTOGENE&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>2 Months</minimum_age>
    <maximum_age>50 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Peter Bauer, Prof.Dr</last_name>
    <role>Study Chair</role>
    <affiliation>Centogene GmbH</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>University Hospital Center Mother Teresa</name>
      <address>
        <city>Tirana</city>
        <zip>10001</zip>
        <country>Albania</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Department of Pediatric,Faculty of Medicine, Alexandria University Children's Hospital</name>
      <address>
        <city>Alexandria</city>
        <zip>21131</zip>
        <country>Egypt</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Ain Shams University-Medical Genetics</name>
      <address>
        <city>Cairo</city>
        <zip>11566</zip>
        <country>Egypt</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Ain Shams University</name>
      <address>
        <city>Cairo</city>
        <country>Egypt</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Ain Shams Univirsity</name>
      <address>
        <city>Cairo</city>
        <country>Egypt</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Departmnet of Pediatrics, Tanta University</name>
      <address>
        <city>Tanta</city>
        <zip>31527</zip>
        <country>Egypt</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Departmnet of Molecular and Medical Genetics, Tbilisi State Medical University</name>
      <address>
        <city>Tbilisi</city>
        <zip>0177</zip>
        <country>Georgia</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Amrita Institute of Medical Sciences &amp; Research Centre</name>
      <address>
        <city>Cochin</city>
        <state>Kerala</state>
        <zip>682041</zip>
        <country>India</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>American of science and technology</name>
      <address>
        <city>Beirut</city>
        <country>Lebanon</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health</name>
      <address>
        <city>Lahore</city>
        <zip>54600</zip>
        <country>Pakistan</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Emergency Hospital for Children &quot;Louis Turcanu&quot;</name>
      <address>
        <city>Timişoara</city>
        <zip>682041</zip>
        <country>Romania</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Lady Ridgeway Hospital for Children</name>
      <address>
        <city>Colombo 8</city>
        <zip>300011</zip>
        <country>Sri Lanka</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>Albania</country>
    <country>Egypt</country>
    <country>Georgia</country>
    <country>India</country>
    <country>Lebanon</country>
    <country>Pakistan</country>
    <country>Romania</country>
    <country>Sri Lanka</country>
  </location_countries>
  <removed_countries>
    <country>Germany</country>
    <country>Lithuania</country>
    <country>United Arab Emirates</country>
  </removed_countries>
  <link>
    <url>http://centogene.com</url>
    <description>Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.</description>
  </link>
  <verification_date>March 2022</verification_date>
  <study_first_submitted>November 22, 2016</study_first_submitted>
  <study_first_submitted_qc>December 13, 2016</study_first_submitted_qc>
  <study_first_posted type="Estimate">December 15, 2016</study_first_posted>
  <last_update_submitted>March 23, 2022</last_update_submitted>
  <last_update_submitted_qc>March 23, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">March 24, 2022</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Duchenne Disease</keyword>
  <keyword>Biomarker</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Muscular Dystrophies</mesh_term>
    <mesh_term>Scoliosis</mesh_term>
    <mesh_term>Muscular Dystrophy, Duchenne</mesh_term>
    <mesh_term>Lordosis</mesh_term>
    <mesh_term>Muscle Weakness</mesh_term>
    <mesh_term>Muscular Atrophy</mesh_term>
    <mesh_term>Blindness</mesh_term>
    <mesh_term>Color Vision Defects</mesh_term>
    <mesh_term>Reflex, Abnormal</mesh_term>
    <mesh_term>Swayback</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/NCT02994030
org study id: BDMD 6-2018
nct id: NCT02994030
lead sponsor: 
has dmc: Yes
is fda regulated drug: No
is fda regulated device: No
International, multicenter, observational, longitudinal study to identify biomarker/s for
      Duchenne Muscular Dystropy (DMD) and to explore the clinical robustness, specificity, and
      long-term variability of these biomarker/s.
Duchenne Muscular Dystrophy (DMD) is a devastating inherited neuromuscular disorder that
      affects 1 in 3300 live male births (females can be mildly affected carriers). DMD causes
      progressive weakness and loss of muscle mass, with symptoms usually appearing in early
      childhood. DMD arises from mutations in the DMD gene that codes for dystrophin.

      The DMD gene is located on the short arm of chromosome X (locus Xp21) and codes for
      dystrophin, containing 3685 amino acid residues. 60-65% of DMD mutations are large
      dele-tions, 10-30% are nonsense and frame-shift mutations, 5-15% are duplications, and 2% are
      intronic or 5'- and 3'-UTR alterations.Dystrophin aggregates as a homotetramer in the
      skeletal muscles or associates with actin and Dystrophin-Associated Glycoproteins (DAGs),
      forming a stable complex that interacts with laminin in the extracellular matrix. Dystrophin
      is considered a key structural element in the muscle fiber, whose primary function is to
      stabilize plasma mem-brane, while the DAGs maintain the sarcolemmal stability by mediating
      the complex interactions of the muscle membrane and extracellular environment. The low levels
      of dystrophin lead to cellular instability and progressive leakage of intracellular
      components, explaining the characteristically high levels of creatine phosphokinase (CPK) in
      the blood of DMD patients.

      Biomarkers serve as measurable indicators of normal biological or pathological processes.
      They are typically directly linked to genetic variants in specific genes and can predict,
      diagnose, monitor, and assess the severity of a disease. It is the goal of this study to
      identify, validate, and monitor biochemical markers from DMD affected participants.
observational model: Cohort
time perspective: Prospective
measure: Identification of DMD biomarker/s
time frame: 36 weeks
description: All samples will be analyzed for the identification of biomarker/s via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.
measure: Exploring the clinical robustness, specificity, and long-term variability of DMD biomarker/s
time frame: 36 months
description: Samples will be analyzed for the identified biomarker candidates via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.
arm group label: Participants with Duchenne Muscular Dystrophy (DMD)
description: Participants diagnosed with Duchenne Muscular Dystrophy (DMD) aged between 2 months and 50 years
Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)
study pop: 
sampling method: Probability Sample
criteria: 
gender: All
minimum age: 2 Months
maximum age: 50 Years
healthy volunteers: No
last name: Peter Bauer, Prof.Dr
role: Study Chair
affiliation: Centogene GmbH
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
country: Albania
country: Egypt
country: Georgia
country: India
country: Lebanon
country: Pakistan
country: Romania
country: Sri Lanka
country: Germany
country: Lithuania
country: United Arab Emirates
url: http://centogene.com
description: Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.
responsible party type: Sponsor
mesh term: Muscular Dystrophies
mesh term: Scoliosis
mesh term: Muscular Dystrophy, Duchenne
mesh term: Lordosis
mesh term: Muscle Weakness
mesh term: Muscular Atrophy
mesh term: Blindness
mesh term: Color Vision Defects
mesh term: Reflex, Abnormal
mesh term: Swayback
sharing ipd: Undecided