ClinicalTrials.gg
CompletedNCT00589225Updated Jul 7, 2016

Primary Hyperoxaluria Mutation Genotyping

An observational study in Primary Hyperoxaluria, sponsored by Mayo Clinic. Completed at 1 site in United States. Per ClinicalTrials.gov, last updated 2016-07-07.

Sponsored by Mayo Clinic · Observational

Study type
Observational
Model
Cohort
Time perspective
Retrospective
Enrollment
902
Sex
All
01

Study summary

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

Read the 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.

02

Conditions studied

  • Primary Hyperoxaluria

Keywords

  • 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
03

In context

Hyperoxaluria, Primary

42 studies on the registry are indexed under Hyperoxaluria, Primary; 11 are open to participants now.

This study's enrollment of 902 is above the median of 730 across 13 observational studies indexed under Hyperoxaluria, Primary.

Browse Hyperoxaluria, Primary studies →

Lead sponsor

Mayo Clinic is the lead sponsor of 3,269 studies on the registry; 672 are open to participants now.

Of its 452 completed or terminated interventional studies of FDA-regulated products, 321 (71%) have results posted.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
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

Eligibility 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
05

Study design

Observational model
Cohort
Time perspective
Retrospective
Enrollment
902 participants (actual)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • 1

    Genetic Analysis

    Genetic: Genetic Analysis

Interventions

  • GeneticGenetic 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.

06

What researchers measure

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

07

Study locations

1 site
  • Mayo Clinic
    Rochester, Minnesota 55905, United States
08

References and documents

Individual participant data

Plan to share: No

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jul 7, 2016, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT00589225
Lead sponsor
Mayo Clinic
Collaborators
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Oxalosis and Hyperoxaluria Foundation (OHF)
Responsible party
Dawn S. Milliner, M.D. (M.D., Mayo Clinic) — Principal investigator
First posted
Jan 9, 2008
Start date
Dec 2003
Primary completion
Sep 2014
Completion
Sep 2014
Last update
Jul 7, 2016

Study contacts

Dawn Milliner, MD
principal investigator · Mayo Clinic

Oversight

Data monitoring committee
Yes
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Jul 2016. You cannot join it, but the record below documents what was studied.

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