<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/NCT02990572</url>
  </required_header>
  <id_info>
    <org_study_id>PRO16030311</org_study_id>
    <nct_id>NCT02990572</nct_id>
  </id_info>
  <brief_title>Amish/Mennonite Research Contact Registry</brief_title>
  <official_title>Research Contact Registry for Members of the Amish and Mennonite Communities</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University of Pittsburgh</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University of Pittsburgh</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 purpose of this registry is to find members of the Plain Community who are interested in&#xD;
      participating in future medical research studies. Having a registry makes it easier to&#xD;
      contact and offer study participation to individuals who are appropriate for a new research&#xD;
      study based on their own and their family medical history. Studies will focus on increasing&#xD;
      knowledge about disorders affecting those who are Amish and Mennonite.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The Amish and Mennonite communities of western Pennsylvania are unique because they are&#xD;
      isolated both geographically and socially. These groups originally migrated as a small group&#xD;
      from Europe. Since this first settlement there have been additional migration events within&#xD;
      North America that have resulted in many distinct communities. These events lead to genetic&#xD;
      founder effects, genetic bottleneck effects and virtually zero genetic inflow. The result has&#xD;
      been an increased burden of genetic disease on these vulnerable communities. Specific founder&#xD;
      genes explain the prevalence of different genetic conditions within each community and family&#xD;
      group. This means that families and communities will have a clustering of certain genetic&#xD;
      conditions, while the prevalence among the Plain people as a whole remains low. Understanding&#xD;
      the specific needs of each family and community group is important in order to deliver&#xD;
      comprehensive and specialized care. This requires research studies and needs assessments&#xD;
      within these communities. Currently this need is being addressed in eastern Pennsylvania by&#xD;
      the Clinic for Special Children in Strasburg. This organization has conducted research to&#xD;
      improve access and quality of care for these Plain Communities. There is an apparent need for&#xD;
      a similar understanding and relationship with the Plain Communities of western Pennsylvania.&#xD;
&#xD;
      Currently, a barrier exists for identifying and ascertaining appropriate individuals within&#xD;
      the Plain Community for new research studies. This is largely due to their social and&#xD;
      geographical isolation related to religious and cultural practices. Improving research and&#xD;
      understanding within Plain Communities has the potential to improve early diagnosis,&#xD;
      interventions, and clinical outcomes. Creating an ongoing registry will moderate these&#xD;
      barriers and provide a platform for contacting willing members of the Plain Community for&#xD;
      participation in future research projects that may positively impact their medical care, as&#xD;
      well as the general care in their communities.&#xD;
&#xD;
      This is not a study but a registry. Potential participants will be educated about the intent&#xD;
      of the registry, and written informed consent will be obtained to allow for collection and&#xD;
      storage of information in the registry for an indefinite period of time. At the time of&#xD;
      consent, potential participants will be informed about what it means to be a part of the&#xD;
      registry and the potential for contact and recruitment to future research studies.&#xD;
&#xD;
      One-on-one interviews with a clinician, or with primary and co-investigators, will be&#xD;
      conducted. This interview may take place in a clinic setting or the participants home or&#xD;
      regional environment. The primary goal of the interview will be to collect a detailed family&#xD;
      and medical history of each participant. This will be used to build a detailed pedigree of&#xD;
      members of this community. Medical information obtained through released medical records will&#xD;
      be included in the registry. Basic demographic and contact information will also be included&#xD;
      in the registry.&#xD;
&#xD;
      Subjects information will be stored in the host PhenoTips database and data will be regularly&#xD;
      undated and reviewed. Participants may be contacted for future research studies.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date>October 2016</start_date>
  <completion_date type="Anticipated">December 2030</completion_date>
  <primary_completion_date type="Anticipated">December 2026</primary_completion_date>
  <study_type>Observational [Patient Registry]</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Other</observational_model>
    <time_perspective>Other</time_perspective>
  </study_design_info>
  <target_duration>100 Years</target_duration>
  <primary_outcome>
    <measure>Accumulation and clinical definition of a patient population who are willing to participate in future research studies for which they are eligible.</measure>
    <time_frame>This registry is intended to be an ongoing resource for recruitment into future research studies and will be maintained up to 14 years.</time_frame>
    <description>This research registry is intended to allow for identification of patients from the Plain Communities who are willing to participate in medical research. Eligibility for each future study will likely cary and patients will be selected and contacted with their permission, by dint of having consented to this registry, about the option of participating in a new research study.</description>
  </primary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Anticipated">1000</enrollment>
  <condition>All</condition>
  <arm_group>
    <arm_group_label>Amish and Mennonite</arm_group_label>
    <description>Agree to allow access to past, current, and future medical records&#xD;
Provide a detailed family health history&#xD;
Provide contact information that may be used for future approach regarding research studies</description>
  </arm_group>
  <eligibility>
    <study_pop>
      <textblock>
        Amish and Mennonite&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Amish and Mennonite men and women age 18 or older&#xD;
&#xD;
          -  Amish and Mennonite children with the permission of a parent&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Amish and Mennonite men and woman age 18 or older who do not speak English&#xD;
&#xD;
          -  Those who are not Amish or Mennonite&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Lina Ghaloul Gonzalez, MD, PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>University of Pittsburgh</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Cate Walsh Vockley, MS, LCGC</last_name>
    <phone>412-692-7349</phone>
    <email>catherine.walshvockley@chp.edu</email>
  </overall_contact>
  <overall_contact_backup>
    <last_name>Lina Ghaloul Gonzalez, MD, PhD</last_name>
    <email>lina.gonzalez@chp.edu</email>
  </overall_contact_backup>
  <location>
    <facility>
      <name>Children's Hospital of Pittsburgh</name>
      <address>
        <city>Pittsburgh</city>
        <state>Pennsylvania</state>
        <zip>15224</zip>
        <country>United States</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Cate Walsh Vockley, MS, LCGC</last_name>
      <phone>412-692-7349</phone>
      <email>Catherine.walshvockley@chp.edu</email>
    </contact>
    <contact_backup>
      <last_name>Lina Ghaloul Gonzalez, MD, PhD</last_name>
      <email>lina.gonzalez@chp.edu</email>
    </contact_backup>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>May 2023</verification_date>
  <study_first_submitted>November 30, 2016</study_first_submitted>
  <study_first_submitted_qc>December 8, 2016</study_first_submitted_qc>
  <study_first_posted type="Estimate">December 13, 2016</study_first_posted>
  <last_update_submitted>May 2, 2023</last_update_submitted>
  <last_update_submitted_qc>May 2, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">May 6, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>University of Pittsburgh</investigator_affiliation>
    <investigator_full_name>Lina Ghaloul Gonzalez</investigator_full_name>
    <investigator_title>Assistant Professor, Medical Genetics, University of Pittsburgh School of Medicine</investigator_title>
  </responsible_party>
  <keyword>Amish</keyword>
  <keyword>Mennonite</keyword>
  <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/NCT02990572
org study id: PRO16030311
nct id: NCT02990572
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
The purpose of this registry is to find members of the Plain Community who are interested in
      participating in future medical research studies. Having a registry makes it easier to
      contact and offer study participation to individuals who are appropriate for a new research
      study based on their own and their family medical history. Studies will focus on increasing
      knowledge about disorders affecting those who are Amish and Mennonite.
The Amish and Mennonite communities of western Pennsylvania are unique because they are
      isolated both geographically and socially. These groups originally migrated as a small group
      from Europe. Since this first settlement there have been additional migration events within
      North America that have resulted in many distinct communities. These events lead to genetic
      founder effects, genetic bottleneck effects and virtually zero genetic inflow. The result has
      been an increased burden of genetic disease on these vulnerable communities. Specific founder
      genes explain the prevalence of different genetic conditions within each community and family
      group. This means that families and communities will have a clustering of certain genetic
      conditions, while the prevalence among the Plain people as a whole remains low. Understanding
      the specific needs of each family and community group is important in order to deliver
      comprehensive and specialized care. This requires research studies and needs assessments
      within these communities. Currently this need is being addressed in eastern Pennsylvania by
      the Clinic for Special Children in Strasburg. This organization has conducted research to
      improve access and quality of care for these Plain Communities. There is an apparent need for
      a similar understanding and relationship with the Plain Communities of western Pennsylvania.

      Currently, a barrier exists for identifying and ascertaining appropriate individuals within
      the Plain Community for new research studies. This is largely due to their social and
      geographical isolation related to religious and cultural practices. Improving research and
      understanding within Plain Communities has the potential to improve early diagnosis,
      interventions, and clinical outcomes. Creating an ongoing registry will moderate these
      barriers and provide a platform for contacting willing members of the Plain Community for
      participation in future research projects that may positively impact their medical care, as
      well as the general care in their communities.

      This is not a study but a registry. Potential participants will be educated about the intent
      of the registry, and written informed consent will be obtained to allow for collection and
      storage of information in the registry for an indefinite period of time. At the time of
      consent, potential participants will be informed about what it means to be a part of the
      registry and the potential for contact and recruitment to future research studies.

      One-on-one interviews with a clinician, or with primary and co-investigators, will be
      conducted. This interview may take place in a clinic setting or the participants home or
      regional environment. The primary goal of the interview will be to collect a detailed family
      and medical history of each participant. This will be used to build a detailed pedigree of
      members of this community. Medical information obtained through released medical records will
      be included in the registry. Basic demographic and contact information will also be included
      in the registry.

      Subjects information will be stored in the host PhenoTips database and data will be regularly
      undated and reviewed. Participants may be contacted for future research studies.
observational model: Other
time perspective: Other
measure: Accumulation and clinical definition of a patient population who are willing to participate in future research studies for which they are eligible.
time frame: This registry is intended to be an ongoing resource for recruitment into future research studies and will be maintained up to 14 years.
description: This research registry is intended to allow for identification of patients from the Plain Communities who are willing to participate in medical research. Eligibility for each future study will likely cary and patients will be selected and contacted with their permission, by dint of having consented to this registry, about the option of participating in a new research study.
arm group label: Amish and Mennonite
description: Agree to allow access to past, current, and future medical records
Provide a detailed family health history
Provide contact information that may be used for future approach regarding research studies
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: Accepts Healthy Volunteers
last name: Lina Ghaloul Gonzalez, MD, PhD
role: Principal Investigator
affiliation: University of Pittsburgh
last name: Cate Walsh Vockley, MS, LCGC
phone: 412-692-7349
email: catherine.walshvockley@chp.edu
last name: Lina Ghaloul Gonzalez, MD, PhD
email: lina.gonzalez@chp.edu
facility: 
status: Recruiting
contact: 
contact backup: 
country: United States
responsible party type: Principal Investigator
investigator affiliation: University of Pittsburgh
investigator full name: Lina Ghaloul Gonzalez
investigator title: Assistant Professor, Medical Genetics, University of Pittsburgh School of Medicine
sharing ipd: No