Primary Hyperoxaluria Mutation Genotyping/Phenotyping

Primary Hyperoxaluria Clinical Trial

Official title:

Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02340689
• Other study ID #: 13-006384
• Status: Completed
• Start date: October 2013
• Est. completion date: December 2018

Study information

• Verified date: August 2019
• Source: Mayo Clinic
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 1235
• Est. completion date: December 2018
• Est. primary completion date: December 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Hyperoxaluria, Primary
• Primary Hyperoxaluria

Intervention

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.

Locations

Country	Name	City	State
United States	Mayo Clinic	Rochester	Minnesota

Sponsors (1)

Lead Sponsor	Collaborator
Mayo Clinic

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Genotype markers of early symptomatic onset of primary hyperoxaluria	Correlation of genotype with severity of disease as defined by age at onset of symptoms	5 years
Secondary	Genotype markers of marked hyperoxaluria in patients with primary hyperoxaluria	Correlation of genotype with severity of disease as defined by the level of urine oxalate	5 years
Secondary	Genotype markers of early loss of kidney function in patients with primary hyperoxaluria.	Correlation of genotype with age at kidney failure	5 years

External Links

•   Mayo Clinic Clinical Trials
•   Mayo Clinic Hyperoxaluria and Oxalosis
•   Mayo Clinic Hyperoxaluria Center