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OpenTrials
Completed

NCT Number: NCT00589225

Primary Hyperoxaluria Mutation Genotyping

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

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Key information

Conditions

Primary Hyperoxaluria Carbohydrate Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Hyperoxaluria Hyperoxaluria, Primary Kidney Diseases Male Urogenital Diseases Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Urogenital Diseases Urologic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Mayo Clinic

Rochester, Minnesota, 55905, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Genetic analysis

Genetic

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.

Primary outcomes

  1. To determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria

    Time frame: 2 years

Sponsors and collaborators

Lead sponsor

Mayo Clinic

Other

Collaborators

  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
  • Oxalosis and Hyperoxaluria Foundation (OHF)

Registry information

Official study title

Correlation of Disease Expression With Specific Genetic Mutations in Primary Hyperoxaluria

Important dates

Study start
2003
Primary completion
2014
Study completion
2014
First posted
Jan 9, 2008
Registry last updated
Jul 7, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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