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Trial record 2 of 23 for:    "primary hyperoxaluria"

Primary Hyperoxaluria Mutation Genotyping/Phenotyping

This study is currently recruiting participants.
Verified August 2017 by John Lieske, Mayo Clinic
Sponsor:
ClinicalTrials.gov Identifier:
NCT02340689
First Posted: January 19, 2015
Last Update Posted: August 7, 2017
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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Information provided by (Responsible Party):
John Lieske, Mayo Clinic
  Purpose
Specific mutations relating to hyperoxaluria will be determined via DNA analysis by the Mayo RKSC research staff.

Condition Intervention
Primary Hyperoxaluria Other: Genetic Analysis

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria

Resource links provided by NLM:


Further study details as provided by John Lieske, Mayo Clinic:

Primary Outcome Measures:
  • 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 Outcome Measures:
  • 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

  • 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


Biospecimen Retention:   Samples With DNA
DNA samples retained for potential future use, with consent of subjects only.

Estimated Enrollment: 1250
Study Start Date: October 2013
Estimated Study Completion Date: December 2020
Estimated Primary Completion Date: December 2020 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Genetic testing
Genetic Analysis
Other: 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 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

Detailed Description:
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.
  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:   No
Sampling Method:   Non-Probability Sample
Study Population
  • Patients with clinical characteristics suggesting of primary hyperoxaluria
  • Family members of patients with clinical characteristics suggestive of primary hyperoxaluria
Criteria

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.
  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): NCT02340689


Contacts
Contact: Barbara Seide 507-255-0387 hyperoxaluriacenter@mayo.edu
Contact: Hyperoxlauria Center 800-270-4637 hyperoxaluriacenter@mayo.edu

Locations
United States, Minnesota
Mayo Clinic Recruiting
Rochester, Minnesota, United States, 55905
Contact: Barbara Seide    507-255-0387    hyperoxaluriacenter@mayo.edu   
Contact: Hyperoxaluria Center    800-270-4637    hyperoxaluriacenter@mayo.edu   
Sponsors and Collaborators
Mayo Clinic
Investigators
Principal Investigator: Dawn Milliner, MD Mayo Clinic
  More Information

Additional Information:
Responsible Party: John Lieske, Principal Investigator, Mayo Clinic
ClinicalTrials.gov Identifier: NCT02340689     History of Changes
Other Study ID Numbers: 13-006384
First Submitted: September 16, 2014
First Posted: January 19, 2015
Last Update Posted: August 7, 2017
Last Verified: August 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: Using a limited data set, plans to share data in accordance with NIH funding expectations.

Keywords provided by John Lieske, Mayo Clinic:
Primary Hyperoxaluria
Primary Oxalosis
Genetic testing for Primary Hyperoxaluria
Hereditary study for Primary Hyperoxaluria
PH
PH type 1
Hyperoxaluria
PH type 2
PH type 3
Genetic testing for PH
Hereditary study for PH
AGXT
GRHPR
HOGA1

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