<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/NCT03758651</url>
  </required_header>
  <id_info>
    <org_study_id>2018P000633</org_study_id>
    <nct_id>NCT03758651</nct_id>
  </id_info>
  <brief_title>Williams Syndrome Strength, Hormones, Activity &amp; Adiposity, DNA Programming, Eating Study</brief_title>
  <acronym>SHAAPE</acronym>
  <official_title>Williams Syndrome SHAAPE STUDY [Strength, Hormones, Activity &amp; Adiposity, DNA Programming, Eating Study]</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Massachusetts General Hospital</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Williams Syndrome Association</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>Massachusetts General 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>
      Williams syndrome (WS) is a rare microdeletion genetic disorder that has a broad phenotype&#xD;
      including many endocrine and metabolic abnormalities. Dr. Pober and colleagues at MGH have&#xD;
      reported the following findings in adults with WS: abnormal body composition (excess body fat&#xD;
      accumulation with a lipedema phenotype), decreased bone mineral density, abnormal glucose&#xD;
      tolerance, and reduced lean mass. Despite the high prevalence and potential effect of&#xD;
      metabolic abnormalities on the health of persons with WS, their full phenotypic range,&#xD;
      potential causal factors (either genetic and/or hormonal) along with their impact on other&#xD;
      aspects of health (such as risk of falls and fractures or interaction with emotional&#xD;
      behavioral concerns) remain incompletely characterized. The purpose of the current study in a&#xD;
      large cohort of subjects with WS is to: collect further information to characterize the&#xD;
      timing of onset and distribution of body fat; better characterize hormonal status of WS&#xD;
      subjects; and screen for genetic variation using single-nucleotide-polymorphism (SNP)&#xD;
      analysis that could elucidate genetic contributors to the lipedema phenotype as well as the&#xD;
      other observed metabolic and bone abnormalities.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Active, not recruiting</overall_status>
  <start_date type="Actual">October 1, 2018</start_date>
  <completion_date type="Anticipated">June 30, 2023</completion_date>
  <primary_completion_date type="Anticipated">June 30, 2023</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>Bone Mineral Density - Lumbar Spine</measure>
    <time_frame>baseline only</time_frame>
  </primary_outcome>
  <primary_outcome>
    <measure>Whole Body DEXA (dual energy x-ray absorptiometry) scan</measure>
    <time_frame>baseline only</time_frame>
    <description>To assess body proportions of fat, bone, and muscle</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Bone Mineral Density - Hip</measure>
    <time_frame>baseline only</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Resting energy expenditure</measure>
    <time_frame>baseline only</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Serum Total Testosterone</measure>
    <time_frame>baseline only</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Serum Estrogen</measure>
    <time_frame>baseline only</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Fasting blood sugar and Oral glucose tolerance test (OGTT)</measure>
    <time_frame>baseline only</time_frame>
  </secondary_outcome>
  <number_of_groups>4</number_of_groups>
  <enrollment type="Anticipated">210</enrollment>
  <condition>Williams Syndrome</condition>
  <condition>Lipedema</condition>
  <arm_group>
    <arm_group_label>Williams syndrome - Onsite participation</arm_group_label>
    <description>Individuals with Williams syndrome who will participate in the study at Massachusetts General Hospital (MGH)</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Williams syndrome - Convention participation</arm_group_label>
    <description>Individuals with Williams syndrome (WS) who will have a more limited evaluation at a convention focusing on WS, such as the WS Association convention.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Williams syndrome - Remote participation</arm_group_label>
    <description>Individuals with Williams syndrome (WS) who will participate in the study remotely by filling out a questionnaire and providing information by mail.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Healthy Controls</arm_group_label>
    <description>Healthy individuals without Williams syndrome who will participate in the study at the Massachusetts General Hospital</description>
  </arm_group>
  <eligibility>
    <study_pop>
      <textblock>
        Dr. Pober and colleagues plan to include 30 individuals with Williams syndrome (WS) who&#xD;
        participate at Massachusetts General Hospital, along with 25-30 matched control&#xD;
        individuals, as well as 50 individuals with WS who participate at conventions related to&#xD;
        WS, and 100 individuals with WS who participate remotely.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        For those participating in-person at Massachusetts General Hospital:&#xD;
&#xD;
        Inclusion Criteria&#xD;
&#xD;
          1. Male or Female age 18-70 years old&#xD;
&#xD;
          2. Diagnosis of Williams syndrome (WS), established by experienced clinician, parent&#xD;
             report, or confirmed by genetic testing such as FISH (fluorescent in situ&#xD;
             hybridization) or chromosomal microarray (WS only)&#xD;
&#xD;
          3. Availability of a parent or guardian to review details of the study with their family&#xD;
             member with WS and participate in the consent process (all WS regardless of age)&#xD;
&#xD;
          4. Availability of a parent or guardian to provide selected medical information (WS only)&#xD;
&#xD;
        Exclusion Criteria&#xD;
&#xD;
          1. History of weight loss surgery or liposuction&#xD;
&#xD;
          2. Positive urine pregnancy test (females only)&#xD;
&#xD;
          3. Obesity or abnormal fat distribution due to a known secondary cause (except WS) such&#xD;
             as Cushing syndrome, HIV-infection, etc.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>70 Years</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <location>
    <facility>
      <name>Massachusetts General Hospital</name>
      <address>
        <city>Boston</city>
        <state>Massachusetts</state>
        <zip>02114</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>September 2022</verification_date>
  <study_first_submitted>November 26, 2018</study_first_submitted>
  <study_first_submitted_qc>November 28, 2018</study_first_submitted_qc>
  <study_first_posted type="Actual">November 29, 2018</study_first_posted>
  <last_update_submitted>September 22, 2022</last_update_submitted>
  <last_update_submitted_qc>September 22, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">September 23, 2022</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Massachusetts General Hospital</investigator_affiliation>
    <investigator_full_name>Barbara R. Pober</investigator_full_name>
    <investigator_title>Geneticist, MGH and Professor of Pediatrics (Emeritus), Harvard Medical School</investigator_title>
  </responsible_party>
  <keyword>Williams Syndrome</keyword>
  <keyword>Lipedema</keyword>
  <keyword>Body Composition</keyword>
  <keyword>Glucose</keyword>
  <keyword>Bone Density</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Williams Syndrome</mesh_term>
    <mesh_term>Lipedema</mesh_term>
    <mesh_term>Syndrome</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>Yes</sharing_ipd>
    <ipd_description>A limited and de-identified dataset may be available to other researchers at the conclusion of the study.</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/NCT03758651
org study id: 2018P000633
nct id: NCT03758651
lead sponsor: 
collaborator: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
Williams syndrome (WS) is a rare microdeletion genetic disorder that has a broad phenotype
      including many endocrine and metabolic abnormalities. Dr. Pober and colleagues at MGH have
      reported the following findings in adults with WS: abnormal body composition (excess body fat
      accumulation with a lipedema phenotype), decreased bone mineral density, abnormal glucose
      tolerance, and reduced lean mass. Despite the high prevalence and potential effect of
      metabolic abnormalities on the health of persons with WS, their full phenotypic range,
      potential causal factors (either genetic and/or hormonal) along with their impact on other
      aspects of health (such as risk of falls and fractures or interaction with emotional
      behavioral concerns) remain incompletely characterized. The purpose of the current study in a
      large cohort of subjects with WS is to: collect further information to characterize the
      timing of onset and distribution of body fat; better characterize hormonal status of WS
      subjects; and screen for genetic variation using single-nucleotide-polymorphism (SNP)
      analysis that could elucidate genetic contributors to the lipedema phenotype as well as the
      other observed metabolic and bone abnormalities.
observational model: Cohort
time perspective: Cross-Sectional
measure: Bone Mineral Density - Lumbar Spine
time frame: baseline only
measure: Whole Body DEXA (dual energy x-ray absorptiometry) scan
time frame: baseline only
description: To assess body proportions of fat, bone, and muscle
measure: Bone Mineral Density - Hip
time frame: baseline only
measure: Resting energy expenditure
time frame: baseline only
measure: Serum Total Testosterone
time frame: baseline only
measure: Serum Estrogen
time frame: baseline only
measure: Fasting blood sugar and Oral glucose tolerance test (OGTT)
time frame: baseline only
arm group label: Williams syndrome - Onsite participation
description: Individuals with Williams syndrome who will participate in the study at Massachusetts General Hospital (MGH)
arm group label: Williams syndrome - Convention participation
description: Individuals with Williams syndrome (WS) who will have a more limited evaluation at a convention focusing on WS, such as the WS Association convention.
arm group label: Williams syndrome - Remote participation
description: Individuals with Williams syndrome (WS) who will participate in the study remotely by filling out a questionnaire and providing information by mail.
arm group label: Healthy Controls
description: Healthy individuals without Williams syndrome who will participate in the study at the Massachusetts General Hospital
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: 70 Years
healthy volunteers: Accepts Healthy Volunteers
facility: 
country: United States
responsible party type: Principal Investigator
investigator affiliation: Massachusetts General Hospital
investigator full name: Barbara R. Pober
investigator title: Geneticist, MGH and Professor of Pediatrics (Emeritus), Harvard Medical School
mesh term: Williams Syndrome
mesh term: Lipedema
mesh term: Syndrome
sharing ipd: Yes
ipd description: A limited and de-identified dataset may be available to other researchers at the conclusion of the study.