<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/NCT04448574</url>
  </required_header>
  <id_info>
    <org_study_id>CWD2019</org_study_id>
    <nct_id>NCT04448574</nct_id>
  </id_info>
  <brief_title>Chest Wall Deformities in Children - Epidemiological Data</brief_title>
  <official_title>Chest Wall Deformities in Children - Epidemiological Data</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Universitätsklinikum Hamburg-Eppendorf</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Universitätsklinikum Hamburg-Eppendorf</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>
      Pectus excavatum (PE) or funnel breast is the most common congenital deformity of the chest&#xD;
      wall, which occurs in about 1 in 400 births with a boy to girl ratio of 4: 1 to 3: 1. The&#xD;
      etiology of PE is largely undefined, but there are numerous indications that genetic factors&#xD;
      play a role in the development of PE. Up to 40% of patients report affected family members&#xD;
      with similar congenital deformities. In many families, PE follows a pattern that would be&#xD;
      compatible with an autosomal dominant or recessive pattern of inheritance. The data on the&#xD;
      frequent occurrence of PE in family members fluctuate greatly and only a few genes associated&#xD;
      with a PE have been identified so far.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Previous studies suggest that sulfation of proteoglycans plays a crucial role in the normal&#xD;
      development of cartilage and bone and could therefore be crucial in the genesis of the&#xD;
      disease. The main catalytic machinery responsible for the biosynthesis and breakage of&#xD;
      sulfate esters in the proteoglycans consists of various enzymes and transporters. Mutations&#xD;
      in Sphingosine Kinase 1 (SK1) and Sphingosine Kinase 2 (SK2) genes that encode the&#xD;
      transmembrane transporters of sulfate or enzymes that are involved in 3'-phosphoadenosine&#xD;
      5'-phosphosulfate (PAPS) synthesis have been identified as the cause of several inherited&#xD;
      diseases that all have skeletal system deformities.&#xD;
&#xD;
      Connections between chest wall deformities with syndromes (e.g. Marfan, Noonan), anomalies&#xD;
      (e.g. Poland, Moebius) or associations (e.g. Cantrell Pentalogy, PHACE) are well known. In&#xD;
      contrast, there have so far been hardly any genetic studies of the isolated congenital chest&#xD;
      wall deformities. Epidemiological data are insufficient and only a few groups deal with the&#xD;
      inheritance and the incidence of this disease when it occurs in isolation.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">September 1, 2019</start_date>
  <completion_date type="Actual">June 1, 2020</completion_date>
  <primary_completion_date type="Actual">June 1, 2020</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Family-Based</observational_model>
    <time_perspective>Retrospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>familial accumulation of breast wall deformities Questionnaire</measure>
    <time_frame>Through study completion, an average of 1 year</time_frame>
  </primary_outcome>
  <secondary_outcome>
    <measure>Recording of clinical side effects on the familial accumulation of chest wall deformities</measure>
    <time_frame>Through study completion, an average of 1 year</time_frame>
  </secondary_outcome>
  <enrollment type="Actual">96</enrollment>
  <condition>Chest Wall Deformity</condition>
  <condition>Funnel Chest</condition>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Chest Wall Deformities Questionaire</intervention_name>
    <description>Questionaire about epidemiological data was sent to Patients and families</description>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        All patients who presented themselves in the study hospitals with the diagnosis of a chest&#xD;
        wall deformity (funnel breast, keel breast, sternum cleft)&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  . All patients who are in the Altona Children's Hospital or in the University Hospital&#xD;
             Hamburg. Funnel breast, keel breast, sternal cleft&#xD;
&#xD;
          -  . A signed declaration of consent from the parents or legal guardians is available&#xD;
&#xD;
          -  . The patient has given a declaration of consent&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Confirmation of another diagnosis associated with chest wall deformities:&#xD;
&#xD;
               1. Marfan syndrome&#xD;
&#xD;
               2. Noonan syndrome&#xD;
&#xD;
               3. Poland syndrome&#xD;
&#xD;
               4. Moebius syndrome&#xD;
&#xD;
               5. Cantrell Pentalogy&#xD;
&#xD;
               6. PHACE association&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>6 Years</minimum_age>
    <maximum_age>30 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <location>
    <facility>
      <name>University Hospital Hamburg Eppendorf - Department of pediatric surgery</name>
      <address>
        <city>Hamburg</city>
        <zip>20246</zip>
        <country>Germany</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>The Altona Children's Hospital</name>
      <address>
        <city>Hamburg</city>
        <zip>22763</zip>
        <country>Germany</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>Germany</country>
  </location_countries>
  <verification_date>December 2021</verification_date>
  <study_first_submitted>June 24, 2020</study_first_submitted>
  <study_first_submitted_qc>June 25, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">June 26, 2020</study_first_posted>
  <last_update_submitted>December 6, 2021</last_update_submitted>
  <last_update_submitted_qc>December 6, 2021</last_update_submitted_qc>
  <last_update_posted type="Actual">December 7, 2021</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Universitätsklinikum Hamburg-Eppendorf</investigator_affiliation>
    <investigator_full_name>Dr. med. Julian Trah</investigator_full_name>
    <investigator_title>Medical Doctor</investigator_title>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Funnel Chest</mesh_term>
    <mesh_term>Congenital Abnormalities</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/NCT04448574
org study id: CWD2019
nct id: NCT04448574
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
Pectus excavatum (PE) or funnel breast is the most common congenital deformity of the chest
      wall, which occurs in about 1 in 400 births with a boy to girl ratio of 4: 1 to 3: 1. The
      etiology of PE is largely undefined, but there are numerous indications that genetic factors
      play a role in the development of PE. Up to 40% of patients report affected family members
      with similar congenital deformities. In many families, PE follows a pattern that would be
      compatible with an autosomal dominant or recessive pattern of inheritance. The data on the
      frequent occurrence of PE in family members fluctuate greatly and only a few genes associated
      with a PE have been identified so far.
Previous studies suggest that sulfation of proteoglycans plays a crucial role in the normal
      development of cartilage and bone and could therefore be crucial in the genesis of the
      disease. The main catalytic machinery responsible for the biosynthesis and breakage of
      sulfate esters in the proteoglycans consists of various enzymes and transporters. Mutations
      in Sphingosine Kinase 1 (SK1) and Sphingosine Kinase 2 (SK2) genes that encode the
      transmembrane transporters of sulfate or enzymes that are involved in 3'-phosphoadenosine
      5'-phosphosulfate (PAPS) synthesis have been identified as the cause of several inherited
      diseases that all have skeletal system deformities.

      Connections between chest wall deformities with syndromes (e.g. Marfan, Noonan), anomalies
      (e.g. Poland, Moebius) or associations (e.g. Cantrell Pentalogy, PHACE) are well known. In
      contrast, there have so far been hardly any genetic studies of the isolated congenital chest
      wall deformities. Epidemiological data are insufficient and only a few groups deal with the
      inheritance and the incidence of this disease when it occurs in isolation.
observational model: Family-Based
time perspective: Retrospective
measure: familial accumulation of breast wall deformities Questionnaire
time frame: Through study completion, an average of 1 year
measure: Recording of clinical side effects on the familial accumulation of chest wall deformities
time frame: Through study completion, an average of 1 year
intervention type: Other
intervention name: Chest Wall Deformities Questionaire
description: Questionaire about epidemiological data was sent to Patients and families
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 6 Years
maximum age: 30 Years
healthy volunteers: No
facility: 
facility: 
country: Germany
responsible party type: Principal Investigator
investigator affiliation: Universitätsklinikum Hamburg-Eppendorf
investigator full name: Dr. med. Julian Trah
investigator title: Medical Doctor
mesh term: Funnel Chest
mesh term: Congenital Abnormalities
sharing ipd: No