<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/NCT03300869</url>
  </required_header>
  <id_info>
    <org_study_id>SMA_RV</org_study_id>
    <nct_id>NCT03300869</nct_id>
  </id_info>
  <brief_title>Natural History of Types 2 and 3 SMA in Taiwan</brief_title>
  <official_title>Natural History of Types 2 and 3 Spinal Muscular Atrophy in Taiwan</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Kaohsiung Medical University Chung-Ho Memorial Hospital</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Biogen</agency>
      <agency_class>Industry</agency_class>
    </collaborator>
    <collaborator>
      <agency>National Taiwan University Hospital</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Mackay Memorial Hospital</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>China Medical University Hospital</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Changhua Christian Hospital</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Chang Gung Memorial Hospital</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>Kaohsiung Medical University Chung-Ho Memorial Hospital</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 primary objective of this study is to investigate the natural history of spinal muscular&#xD;
      atrophy (SMA) types 2 and 3 patients in Taiwan. This study will provide further insights into&#xD;
      the clinical course SMA. Several analyses will be conducted regarding overall survival,&#xD;
      demographic characteristics, motor function, respiratory and nutritional support, and&#xD;
      genotype and phenotype correlation.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      As with other rare diseases, individual groups of SMA have therefore opted to share patient&#xD;
      information in the form of clinical sites to increase the overall patient cohorts on which&#xD;
      clinical outcomes and new assisted-healthcare technologies can be assessed. Using the&#xD;
      collaborative and retrospective study of types 2 and 3 SMA patients in Taiwan, the&#xD;
      investigators aim to 1) characterize the correlation of genotype and phenotype, 2) correlate&#xD;
      the onset, progression, management with disease outcome, 3) depict comorbidity and within&#xD;
      type 2 and 3 SMA patients with different SMN2 copy number.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Recruiting</last_known_status>
  <start_date type="Actual">September 1, 2017</start_date>
  <completion_date type="Anticipated">December 2019</completion_date>
  <primary_completion_date type="Anticipated">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>Describe the correlation of genotype and phenotype in SMA types 2 and 3</measure>
    <time_frame>through study completion, an average of 2 years</time_frame>
    <description>Genotype is defined by SMN 2 copy number(s) and phenotype is defined by clinical types and characteristics.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Disease onset in patients with SMA types 2 and 3</measure>
    <time_frame>through study completion, an average of 2 years</time_frame>
    <description>Number of participants with disease onset as assessed by year</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Disease mortality in patients with SMA types 2 and 3</measure>
    <time_frame>through study completion, an average of 2 years</time_frame>
    <description>Number of participants with disease mortality as assessed by year</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Scoliosis in patients with SMA types 2 and 3</measure>
    <time_frame>through study completion, an average of 2 years</time_frame>
    <description>Number of participants with scoliosis as assessed by year</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>BiPAP usage in patients with SMA types 2 and 3</measure>
    <time_frame>through study completion, an average of 2 years</time_frame>
    <description>Number of participants with BiPAP usage as assessed by year</description>
  </secondary_outcome>
  <enrollment type="Anticipated">300</enrollment>
  <condition>Spinal Muscular Atrophy</condition>
  <eligibility>
    <study_pop>
      <textblock>
        In the past decades, The SMA is a rare disease (incidence of 1 in every 6,000-10,000 live&#xD;
        births) with a carrier frequency of about 1 in 40-50 people. Therefore, individual&#xD;
        countries have small cohorts of affected patients.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          1. Patients are diagnosed with SMA types 2 or 3&#xD;
&#xD;
          2. Generalized hypotonia and muscle weakness, weakness of the legs is greater than the&#xD;
             arms, and the proximal part is weaker than distal part of extremities.&#xD;
&#xD;
          3. SMN1 gene deletion or mutation and/or neurogenic changes in electromyogram and/or&#xD;
             muscle pathology.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          1. Non-5q SMA (no deletion or mutation of SMN1 gene) patients.&#xD;
&#xD;
          2. Type 1 SMA patients.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>6 Months</minimum_age>
    <maximum_age>70 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_contact>
    <last_name>Yun-Hui Chou</last_name>
    <phone>+886972977320</phone>
    <email>wendychou3@gmail.com</email>
  </overall_contact>
  <location>
    <facility>
      <name>Kaohsiung Medical University Chung-Ho Memorial Hospital</name>
      <address>
        <city>Kaohsiung</city>
        <zip>807</zip>
        <country>Taiwan</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Yun-Hui Chou</last_name>
      <phone>+886972977320</phone>
      <email>wendychoucrn@gmail.com</email>
    </contact>
    <investigator>
      <last_name>Yuh-Jyh Jong, MD</last_name>
      <role>Principal Investigator</role>
    </investigator>
  </location>
  <location_countries>
    <country>Taiwan</country>
  </location_countries>
  <verification_date>July 2019</verification_date>
  <study_first_submitted>September 13, 2017</study_first_submitted>
  <study_first_submitted_qc>October 2, 2017</study_first_submitted_qc>
  <study_first_posted type="Actual">October 4, 2017</study_first_posted>
  <last_update_submitted>July 24, 2019</last_update_submitted>
  <last_update_submitted_qc>July 24, 2019</last_update_submitted_qc>
  <last_update_posted type="Actual">July 26, 2019</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Spinal Muscular Atrophy</keyword>
  <keyword>Natural History</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Muscular Atrophy</mesh_term>
    <mesh_term>Muscular Atrophy, Spinal</mesh_term>
    <mesh_term>Atrophy</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
    <ipd_description>There is not a plan to make IPD available</ipd_description>
  </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/NCT03300869
org study id: SMA_RV
nct id: NCT03300869
lead sponsor: 
collaborator: 
collaborator: 
collaborator: 
collaborator: 
collaborator: 
collaborator: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
The primary objective of this study is to investigate the natural history of spinal muscular
      atrophy (SMA) types 2 and 3 patients in Taiwan. This study will provide further insights into
      the clinical course SMA. Several analyses will be conducted regarding overall survival,
      demographic characteristics, motor function, respiratory and nutritional support, and
      genotype and phenotype correlation.
As with other rare diseases, individual groups of SMA have therefore opted to share patient
      information in the form of clinical sites to increase the overall patient cohorts on which
      clinical outcomes and new assisted-healthcare technologies can be assessed. Using the
      collaborative and retrospective study of types 2 and 3 SMA patients in Taiwan, the
      investigators aim to 1) characterize the correlation of genotype and phenotype, 2) correlate
      the onset, progression, management with disease outcome, 3) depict comorbidity and within
      type 2 and 3 SMA patients with different SMN2 copy number.
observational model: Other
time perspective: Retrospective
measure: Describe the correlation of genotype and phenotype in SMA types 2 and 3
time frame: through study completion, an average of 2 years
description: Genotype is defined by SMN 2 copy number(s) and phenotype is defined by clinical types and characteristics.
measure: Disease onset in patients with SMA types 2 and 3
time frame: through study completion, an average of 2 years
description: Number of participants with disease onset as assessed by year
measure: Disease mortality in patients with SMA types 2 and 3
time frame: through study completion, an average of 2 years
description: Number of participants with disease mortality as assessed by year
measure: Scoliosis in patients with SMA types 2 and 3
time frame: through study completion, an average of 2 years
description: Number of participants with scoliosis as assessed by year
measure: BiPAP usage in patients with SMA types 2 and 3
time frame: through study completion, an average of 2 years
description: Number of participants with BiPAP usage as assessed by year
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 6 Months
maximum age: 70 Years
healthy volunteers: No
last name: Yun-Hui Chou
phone: +886972977320
email: wendychou3@gmail.com
facility: 
status: Recruiting
contact: 
investigator: 
country: Taiwan
responsible party type: Sponsor
mesh term: Muscular Atrophy
mesh term: Muscular Atrophy, Spinal
mesh term: Atrophy
sharing ipd: No
ipd description: There is not a plan to make IPD available