We are updating the design of this site. Learn more.
Show more
ClinicalTrials.gov
ClinicalTrials.gov Menu

Primary Hyperoxaluria Mutation Genotyping

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT00589225
First Posted: January 9, 2008
Last Update Posted: July 7, 2016
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Collaborators:
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Oxalosis and Hyperoxaluria Foundation (OHF)
Information provided by (Responsible Party):
Dawn S. Milliner, M.D., Mayo Clinic
  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 Phase
Primary Hyperoxaluria Genetic: Genetic Analysis Phase 1

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Correlation of Disease Expression With Specific Genetic Mutations in Primary Hyperoxaluria

Resource links provided by NLM:


Further study details as provided by Dawn S. Milliner, M.D., 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 ]

Biospecimen Retention:   Samples With DNA
DNA samples

Enrollment: 902
Study Start Date: December 2003
Study Completion Date: September 2014
Primary Completion Date: September 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts 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

Information from the National Library of Medicine

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, Learn About Clinical Studies.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
  • Patients with clinical findings suggestive of primary hyperoxaluria
  • Family members of patiente with clinical findings suggestive of primary hyperoxaluria
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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00589225


Locations
United States, Minnesota
Mayo Clinic
Rochester, Minnesota, United States, 55905
Sponsors and Collaborators
Mayo Clinic
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Oxalosis and Hyperoxaluria Foundation (OHF)
Investigators
Principal Investigator: Dawn Milliner, MD Mayo Clinic
  More Information

Additional Information:
Responsible Party: Dawn S. Milliner, M.D., M.D., Mayo Clinic
ClinicalTrials.gov Identifier: NCT00589225     History of Changes
Other Study ID Numbers: 434-03
R01DK073354 ( U.S. NIH Grant/Contract )
First Submitted: December 28, 2007
First Posted: January 9, 2008
Last Update Posted: July 7, 2016
Last Verified: July 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by Dawn S. Milliner, M.D., Mayo Clinic:
PH
PH type I
Primary Hyperoxaluria
Hyperoxaluria
Primary Oxalosis
PH type II
PH type III
Genetic testing for PH
Genetic testing for Primary Hyperoxaluria
Hereditary study for PH
Hereditary study for Primary Hyperoxaluria

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