<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/NCT03780153</url>
  </required_header>
  <id_info>
    <org_study_id>2019/FO249324</org_study_id>
    <nct_id>NCT03780153</nct_id>
  </id_info>
  <brief_title>The Norwegian Adult Achondroplasia Study</brief_title>
  <official_title>The Norwegian Adult Achondroplasia Study</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Sunnaas Rehabilitation Hospital</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Sunnaas Rehabilitation 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 study aims to investigate the Norwegian adult achondroplasia population regarding degree&#xD;
      and extent of symptoms and clinical manifestations and how this population manages in daily&#xD;
      life, including demographics, physical function, and work participation.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The present study aims to investigate the degree and extent of spinal stenosis, chronic pain,&#xD;
      sleep apnoea, impaired hearing, cardiovascular risk factors and body composition in Norwegian&#xD;
      adults with achondroplasia. The study will also explore these factors' impact on physical&#xD;
      function, ability to perform daily activities, work participation and needs for assistive&#xD;
      devices and social benefits. The study is conducted in collaboration with the Norwegian&#xD;
      Restricted Growth Association, and TRS National Resource Centre for Rare Disorders, Sunnaas&#xD;
      Rehabilitation Hospital, Lovisenberg Hospital and Oslo University Hospital.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">March 1, 2017</start_date>
  <completion_date type="Actual">March 21, 2022</completion_date>
  <primary_completion_date type="Actual">March 31, 2019</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>Cross-Sectional</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Describe the prevalence of medical complications in adults with achondroplasia</measure>
    <time_frame>2 years</time_frame>
    <description>Describe prevalence of medical complications in a cohort of Norwegian adults with achondroplasia using interview, clinical examination and review of medical records. Data on spinal stenosis will be obtained by face-to-face interview, clinical examination, and review of medical charts including MRI-scans. Assessment of sleep apnoea will include an overnight sleep registration (polygraphy). Hearing will be assessed by standardized examination including audiometry, tympanometry and impedance measurements</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Describe prevalence of cardiovascular risk factors in adults with achondroplasia, and investigate body composition.</measure>
    <time_frame>2 years</time_frame>
    <description>Cardiovascular risk factors, including smoking habits and blood pressure, will be recorded by interview and clinical examination, and will also include a fasting blood sample for lipids, glucose, HbA1C, thyroid, kidney and liver function tests. Body composition will be assessed by anthropometric measures (height in cm, weight in kg, waist circumference in cm, and hip circumference in cm), BMI will be calculated, and body fat content and distribution will be assessed by using MRI.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Demographics and activity of daily living (ADL), education and work participation</measure>
    <time_frame>2 years</time_frame>
    <description>Data on age, gender, education level, work participation, needs for assistive devices and social benefits will be obtained by interview. Assessment of ADL will be obtained by clinical interview and by use of The Health Assessment Questionnaire</description>
  </primary_outcome>
  <enrollment type="Actual">50</enrollment>
  <condition>Achondroplasia</condition>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>No intervention</intervention_name>
    <description>Observation study. No intervention</description>
  </intervention>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Diagnosis of achondroplasia will be genetically verified. Blood samples for lipids, glucose,&#xD;
      thyroid-, liver and kidney function and key regulating hormones in fat- and glucose&#xD;
      metabolism&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Adults 16 years or older with achondroplasia&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Residents of Norway&#xD;
&#xD;
          -  Aged 16 years or older&#xD;
&#xD;
          -  Clinical and genetic diagnosis of achondroplasia&#xD;
&#xD;
          -  Speak and understand the Norwegian language.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Severe cognitive deficits, mental illness or substance abuse&#xD;
&#xD;
          -  Having a medical condition making them unable to participate in the study.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <gender_based>Yes</gender_based>
    <gender_description>16 years or older</gender_description>
    <minimum_age>16 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Vegard Strom, Phd</last_name>
    <role>Study Director</role>
    <affiliation>Sunnaas Rehabilitation Hospital</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Sunnas Rehabilitation Hospital</name>
      <address>
        <city>Nesoddtangen</city>
        <state>Akershus</state>
        <zip>1450</zip>
        <country>Norway</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>Norway</country>
  </location_countries>
  <verification_date>December 2021</verification_date>
  <study_first_submitted>December 17, 2018</study_first_submitted>
  <study_first_submitted_qc>December 17, 2018</study_first_submitted_qc>
  <study_first_posted type="Actual">December 19, 2018</study_first_posted>
  <last_update_submitted>October 28, 2022</last_update_submitted>
  <last_update_submitted_qc>October 28, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">October 31, 2022</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Achondroplasia</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>Undecided</sharing_ipd>
    <ipd_description>Deidentified data will be available on request</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/NCT03780153
org study id: 2019/FO249324
nct id: NCT03780153
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
The study aims to investigate the Norwegian adult achondroplasia population regarding degree
      and extent of symptoms and clinical manifestations and how this population manages in daily
      life, including demographics, physical function, and work participation.
The present study aims to investigate the degree and extent of spinal stenosis, chronic pain,
      sleep apnoea, impaired hearing, cardiovascular risk factors and body composition in Norwegian
      adults with achondroplasia. The study will also explore these factors' impact on physical
      function, ability to perform daily activities, work participation and needs for assistive
      devices and social benefits. The study is conducted in collaboration with the Norwegian
      Restricted Growth Association, and TRS National Resource Centre for Rare Disorders, Sunnaas
      Rehabilitation Hospital, Lovisenberg Hospital and Oslo University Hospital.
observational model: Cohort
time perspective: Cross-Sectional
measure: Describe the prevalence of medical complications in adults with achondroplasia
time frame: 2 years
description: Describe prevalence of medical complications in a cohort of Norwegian adults with achondroplasia using interview, clinical examination and review of medical records. Data on spinal stenosis will be obtained by face-to-face interview, clinical examination, and review of medical charts including MRI-scans. Assessment of sleep apnoea will include an overnight sleep registration (polygraphy). Hearing will be assessed by standardized examination including audiometry, tympanometry and impedance measurements
measure: Describe prevalence of cardiovascular risk factors in adults with achondroplasia, and investigate body composition.
time frame: 2 years
description: Cardiovascular risk factors, including smoking habits and blood pressure, will be recorded by interview and clinical examination, and will also include a fasting blood sample for lipids, glucose, HbA1C, thyroid, kidney and liver function tests. Body composition will be assessed by anthropometric measures (height in cm, weight in kg, waist circumference in cm, and hip circumference in cm), BMI will be calculated, and body fat content and distribution will be assessed by using MRI.
measure: Demographics and activity of daily living (ADL), education and work participation
time frame: 2 years
description: Data on age, gender, education level, work participation, needs for assistive devices and social benefits will be obtained by interview. Assessment of ADL will be obtained by clinical interview and by use of The Health Assessment Questionnaire
intervention type: Other
intervention name: No intervention
description: Observation study. No intervention
Diagnosis of achondroplasia will be genetically verified. Blood samples for lipids, glucose,
      thyroid-, liver and kidney function and key regulating hormones in fat- and glucose
      metabolism
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
gender based: Yes
gender description: 16 years or older
minimum age: 16 Years
maximum age: N/A
healthy volunteers: No
last name: Vegard Strom, Phd
role: Study Director
affiliation: Sunnaas Rehabilitation Hospital
facility: 
country: Norway
responsible party type: Sponsor
mesh term: Achondroplasia
sharing ipd: Undecided
ipd description: Deidentified data will be available on request