An observational study in Primary Hyperoxaluria, sponsored by Mayo Clinic. Completed at 1 site in United States. Open to participants aged 1 Day and older. Per ClinicalTrials.gov, last updated 2019-08-19.
Sponsored by Mayo Clinic · Observational
Specific mutations relating to hyperoxaluria will be determined via DNA analysis by the Mayo RKSC research staff.
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.
42 studies on the registry are indexed under Hyperoxaluria, Primary; 11 are open to participants now.
This study's enrollment of 1,235 is above the median of 730 across 13 observational studies indexed under Hyperoxaluria, Primary.
Browse Hyperoxaluria, Primary studies →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.
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Exclusion Criteria:
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.
Also known as: 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
Genotype markers of early symptomatic onset of primary hyperoxaluria
Correlation of genotype with severity of disease as defined by age at onset of symptoms
Time frame: 5 years
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
Time frame: 5 years
Genotype markers of early loss of kidney function in patients with primary hyperoxaluria.
Correlation of genotype with age at kidney failure
Time frame: 5 years
Plan to share: No — Using a limited data set, plans to share data in accordance with NIH funding expectations.
Ran from Oct 2013 to primary completion in Dec 2018, 62 months.
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This study is completed, as verified in Aug 2019. You cannot join it, but the record below documents what was studied.
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