Primary Hyperoxaluria Mutation Genotyping

This study is currently recruiting participants. (see Contacts and Locations)
Verified December 2013 by Mayo Clinic
Sponsor:
Collaborators:
Oxalosis and Hyperoxaluria Foundation (OHF)
Information provided by (Responsible Party):
Dawn S. Milliner, M.D., Mayo Clinic
ClinicalTrials.gov Identifier:
NCT00589225
First received: December 28, 2007
Last updated: December 20, 2013
Last verified: December 2013
  Purpose

This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria.


Condition Intervention
Primary Hyperoxaluria
Genetic: Genetic Analysis

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Screening
Official Title: Correlation of Disease Expression With Specific Genetic Mutations in Primary Hyperoxaluria

Resource links provided by NLM:


Further study details as provided by Mayo Clinic:

Primary Outcome Measures:
  • To determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria [ Time Frame: 2 years ] [ Designated as safety issue: No ]

Estimated Enrollment: 400
Study Start Date: December 2003
Estimated Study Completion Date: December 2020
Estimated Primary Completion Date: December 2020 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
1
Genetic Analysis
Genetic: Genetic Analysis
We will draw one tube of blood from your arm to obtain white blood cells. These white blood cells will be used as a source of DNA for genetic testing.

Detailed Description:

During your study visit, we will draw one tube, about two teaspoonfuls (1 to 1 ½ teaspoons for children), of blood from your arm to obtain white blood cells. These white blood cells will be used as a source of DNA for genetic testing. We will use the isolated DNA to try to identify the gene that is defective in Primary Hyperoxaluria by comparing it with the structure of genes in normal individuals, patients with Primary Hyperoxaluria, and family members of Primary Hyperoxaluria patients. In family members of primary hyperoxaluria patients, a 24 hour urine test may also be collected.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

  • You have been diagnosed, or you are in the process of being diagnosed Primary Hyperoxaluria
  • You have a family member diagnosed with Primary Hyperoxaluria
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00589225

Contacts
Contact: Barbara Seide 507-255-0387 hyperoxaluriacenter@mayo.edu
Contact: Mayo Clinic Hyperoxaluria Center 800-270-4637 hyperoxaluriacenter@mayo.edu

Locations
United States, Minnesota
Mayo Clinic Recruiting
Rochester, Minnesota, United States, 55905
Contact: Barbara Seide    507-255-0387    hyperoxaluriacenter@mayo.edu   
Principal Investigator: Dawn Milliner, MD         
Sponsors and Collaborators
Mayo Clinic
Oxalosis and Hyperoxaluria Foundation (OHF)
Investigators
Principal Investigator: Dawn Milliner, MD Mayo Clinic
  More Information

Additional Information:
No publications provided

Responsible Party: Dawn S. Milliner, M.D., M.D., Mayo Clinic
ClinicalTrials.gov Identifier: NCT00589225     History of Changes
Other Study ID Numbers: 434-03, DK73354-03
Study First Received: December 28, 2007
Last Updated: December 20, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by Mayo Clinic:
Genetic testing for PH
Genetic testing for Primary Hyperoxaluria
PH
PH type I
Primary Hyperoxaluria
Hyperoxaluria
Primary Oxalosis
PH type II
PH type III
Hereditary study for PH
Hereditary study for Primary Hyperoxaluria

Additional relevant MeSH terms:
Hyperoxaluria
Hyperoxaluria, Primary
Kidney Diseases
Urologic Diseases
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases

ClinicalTrials.gov processed this record on August 01, 2014