<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/NCT02194582</url>
  </required_header>
  <id_info>
    <org_study_id>2009P000430</org_study_id>
    <secondary_id>5R01DK054931-18</secondary_id>
    <nct_id>NCT02194582</nct_id>
  </id_info>
  <brief_title>Genetic Causes of FSGS, Nephrotic Syndrome, or Kidney Failure</brief_title>
  <acronym>FSGS</acronym>
  <official_title>Molecular and Genetic Analysis of Inherited Kidney Dysfunction</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Beth Israel Deaconess Medical Center</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>National Institutes of Health (NIH)</agency>
      <agency_class>NIH</agency_class>
    </collaborator>
    <collaborator>
      <agency>National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)</agency>
      <agency_class>NIH</agency_class>
    </collaborator>
    <collaborator>
      <agency>United States Department of Defense</agency>
      <agency_class>U.S. Fed</agency_class>
    </collaborator>
  </sponsors>
  <source>Beth Israel Deaconess Medical Center</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      The investigators are trying to learn more about the cause of kidney diseases such as Focal&#xD;
      Segmental Glomerulosclerosis (FSGS) and Nephrotic syndrome by studying genetics. The&#xD;
      investigators are interested in discovering which genes play a role in causing a&#xD;
      predisposition to FSGS/NS. The investigators also want to learn why FSGS/NS can run in&#xD;
      families. Participation in our study involves a saliva sample and a urine sample that you can&#xD;
      give from home. There is no cost to participate. All information is kept private and&#xD;
      confidential. The investigators also like to include healthy volunteers (parents, spouses) if&#xD;
      interested/available but of course this is completely optional.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The investigators welcome anyone (with or without a family history) with unexplained, non&#xD;
      syndromic FSGS, nephrotic syndrome, or proteinuria to join the study. Participation involves&#xD;
      a saliva (or blood if it is preferable) sample and urine sample (if applicable). There is no&#xD;
      cost to participate and the study can be done from home in most cases.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Active, not recruiting</overall_status>
  <start_date type="Actual">June 1996</start_date>
  <completion_date type="Anticipated">January 2035</completion_date>
  <primary_completion_date type="Anticipated">January 2035</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>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>To identify the genetic causes of FSGS, NS, and idiopathic proteinuria/ESRD in patients and families</measure>
    <time_frame>2035</time_frame>
    <description>This is an ongoing study for research purposes only.</description>
  </primary_outcome>
  <enrollment type="Anticipated">2050</enrollment>
  <condition>Focal Segmental Glomerulosclerosis</condition>
  <condition>Nephrotic Syndrome</condition>
  <condition>End Stage Renal Disease</condition>
  <condition>Kidney Failure</condition>
  <condition>Unexplained Proteinuria</condition>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Usually saliva In some cases, a blood sample may be obtained In some cases, a urine sample&#xD;
      may be requested&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        We are recruiting subjects who have kidney disease, family members of a person with kidney&#xD;
        disease, and healthy controls.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Subjects with FSGS (focal segmental glomerulosclerosis)&#xD;
&#xD;
          -  Subjects with NS (nephrotic syndrome)&#xD;
&#xD;
          -  Subjects with unexplained kidney failure (have had a transplant or on dialysis)&#xD;
&#xD;
          -  Subjects with unexplained proteinuria&#xD;
&#xD;
          -  Family members of a person with FSGS, NS, kidney failure, or unexplained protein in&#xD;
             their urine&#xD;
&#xD;
          -  Healthy volunteers&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Patients whose kidney disease is already explained by another syndrome such as&#xD;
             (Branchio Oto Renal Syndrome or Alports syndrome)&#xD;
&#xD;
          -  Patients who already know the genetic cause of their kidney disease&#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>Martin R Pollak, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Beth Israel Deaconess Medical Center</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>BIDMC</name>
      <address>
        <city>Boston</city>
        <state>Massachusetts</state>
        <zip>02215</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <link>
    <url>https://sites.google.com/site/pollakfsgs/</url>
    <description>BIDMC - Pollak Lab Website</description>
  </link>
  <verification_date>March 2023</verification_date>
  <study_first_submitted>July 16, 2014</study_first_submitted>
  <study_first_submitted_qc>July 17, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">July 18, 2014</study_first_posted>
  <last_update_submitted>March 9, 2023</last_update_submitted>
  <last_update_submitted_qc>March 9, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">March 10, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Beth Israel Deaconess Medical Center</investigator_affiliation>
    <investigator_full_name>Martin R. Pollak</investigator_full_name>
    <investigator_title>Professor of Medicine</investigator_title>
  </responsible_party>
  <keyword>FSGS</keyword>
  <keyword>NS</keyword>
  <keyword>Kidney disease</keyword>
  <keyword>Kidney failure</keyword>
  <keyword>Renal disease</keyword>
  <keyword>nephrotic syndrome</keyword>
  <keyword>focal segmental glomerulosclerosis</keyword>
  <keyword>familial kidney disease</keyword>
  <keyword>minimal change disease</keyword>
  <keyword>proteinuria</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Kidney Diseases</mesh_term>
    <mesh_term>Kidney Failure, Chronic</mesh_term>
    <mesh_term>Renal Insufficiency</mesh_term>
    <mesh_term>Proteinuria</mesh_term>
    <mesh_term>Nephrotic Syndrome</mesh_term>
    <mesh_term>Nephrosis</mesh_term>
    <mesh_term>Glomerulosclerosis, Focal Segmental</mesh_term>
    <mesh_term>Syndrome</mesh_term>
  </condition_browse>
  <!-- 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/NCT02194582
org study id: 2009P000430
secondary id: 5R01DK054931-18
nct id: NCT02194582
lead sponsor: 
collaborator: 
collaborator: 
collaborator: 
has dmc: No
The investigators are trying to learn more about the cause of kidney diseases such as Focal
      Segmental Glomerulosclerosis (FSGS) and Nephrotic syndrome by studying genetics. The
      investigators are interested in discovering which genes play a role in causing a
      predisposition to FSGS/NS. The investigators also want to learn why FSGS/NS can run in
      families. Participation in our study involves a saliva sample and a urine sample that you can
      give from home. There is no cost to participate. All information is kept private and
      confidential. The investigators also like to include healthy volunteers (parents, spouses) if
      interested/available but of course this is completely optional.
The investigators welcome anyone (with or without a family history) with unexplained, non
      syndromic FSGS, nephrotic syndrome, or proteinuria to join the study. Participation involves
      a saliva (or blood if it is preferable) sample and urine sample (if applicable). There is no
      cost to participate and the study can be done from home in most cases.
observational model: Family-Based
time perspective: Prospective
measure: To identify the genetic causes of FSGS, NS, and idiopathic proteinuria/ESRD in patients and families
time frame: 2035
description: This is an ongoing study for research purposes only.
Usually saliva In some cases, a blood sample may be obtained In some cases, a urine sample
      may be requested
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: Martin R Pollak, MD
role: Principal Investigator
affiliation: Beth Israel Deaconess Medical Center
facility: 
country: United States
url: https://sites.google.com/site/pollakfsgs/
description: BIDMC - Pollak Lab Website
responsible party type: Principal Investigator
investigator affiliation: Beth Israel Deaconess Medical Center
investigator full name: Martin R. Pollak
investigator title: Professor of Medicine
mesh term: Kidney Diseases
mesh term: Kidney Failure, Chronic
mesh term: Renal Insufficiency
mesh term: Proteinuria
mesh term: Nephrotic Syndrome
mesh term: Nephrosis
mesh term: Glomerulosclerosis, Focal Segmental
mesh term: Syndrome