Primary Hyperoxaluria Mutation Genotyping

This study has been completed.
Sponsor:
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
ClinicalTrials.gov Identifier:
NCT00589225
First received: December 28, 2007
Last updated: July 5, 2016
Last verified: July 2016

December 28, 2007
July 5, 2016
December 2003
September 2014   (final data collection date for primary outcome measure)
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 ]
Same as current
Complete list of historical versions of study NCT00589225 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Primary Hyperoxaluria Mutation Genotyping
Correlation of Disease Expression With Specific Genetic Mutations in Primary Hyperoxaluria
This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria.
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.
Observational
Observational Model: Cohort
Time Perspective: Retrospective
Not Provided
Retention:   Samples With DNA
Description:
DNA samples
Non-Probability Sample
  • Patients with clinical findings suggestive of primary hyperoxaluria
  • Family members of patiente with clinical findings suggestive of primary hyperoxaluria
Primary Hyperoxaluria
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.
1
Genetic Analysis
Intervention: Genetic: Genetic Analysis
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
902
September 2014
September 2014   (final data collection date for primary outcome measure)

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
Both
Child, Adult, Senior
Yes
Contact information is only displayed when the study is recruiting subjects
United States
 
NCT00589225
434-03, R01DK073354
Yes
No
Not Provided
Dawn S. Milliner, M.D., Mayo Clinic
Mayo Clinic
  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
  • Oxalosis and Hyperoxaluria Foundation (OHF)
Principal Investigator: Dawn Milliner, MD Mayo Clinic
Mayo Clinic
July 2016

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP