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Completed

NCT Number: NCT02340689

Primary Hyperoxaluria Mutation Genotyping/Phenotyping

Specific mutations relating to hyperoxaluria will be determined via DNA analysis by the Mayo RKSC research staff.

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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

Age range

1 day and older

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 teaspoons (1 to 1 ½ teaspoons for children), of blood from your arm. White blood cells from the sample will be used as a source of DNA for genetic testing. We will use the DNA to try to identify mutations (changes) in one of the genes that can cause primary hyperoxaluria. This will be done by comparing it with the structure of these genes in normal individuals, patients with primary hyperoxaluria, and family members of primary hyperoxaluria patients. In family members of primary hyperoxaluria patients, a 24 hr urine test may also be collected.

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

  • Ages birth to 99 years in whom clinical information is available from medical records
  • Patients with a diagnosis of PH confirmed on previous genetic testing
  • Patients with clinical suspicion of primary hyperoxaluria (elevated urine oxalate of greater than 0.8 mmol/1.73 m2/day (>70 mg/1.73 m2/day), history of kidney stones, and/or nephrocalcinosis documented by medical history or imaging studies
  • First or second degree family members of a patient with primary hyperoxaluria

Exclusion criteria

  • Stone formers who do not have confirmed PH and do not meet the inclusion criteria for clinical suspicion of primary hyperoxaluria
  • Unwilling or unable to provide consent/assent.

Treatment and study plan

Genetic Analysis

Other

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 analysis.

Other names: PH, PH type 1, Primary Hyperoxaluria, Hyperoxlauria, Primary Oxalosis, PH type 2, PH type 3, Genetic testing for PH, Genetic testing for Primary Hyperoxaluria, Hereditary study for PH, Hereditary study for Primary Hyperoxaluria, AGXT, GRHPR, HOGA1

Primary outcomes

  1. Genotype markers of early symptomatic onset of primary hyperoxaluria

    Time frame: 5 years

    Correlation of genotype with severity of disease as defined by age at onset of symptoms

Secondary outcomes

  1. Genotype markers of marked hyperoxaluria in patients with primary hyperoxaluria

    Time frame: 5 years

    Correlation of genotype with severity of disease as defined by the level of urine oxalate

  2. Genotype markers of early loss of kidney function in patients with primary hyperoxaluria.

    Time frame: 5 years

    Correlation of genotype with age at kidney failure

Sponsors and collaborators

Lead sponsor

Mayo Clinic

Other

Registry information

Official study title

Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria

Important dates

Study start
2013
Primary completion
2018
Study completion
2018
First posted
Jan 19, 2015
Registry last updated
Aug 19, 2019

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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