SNPMiner Trials (Home Page)
Report for Mutation G170R
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There are 2 clinical trials
Clinical Trials
1 Renal Protective Effect of ACEI and ARB in Primary Hyperoxaluria
This study will test the effectiveness of two medications: ACEI (angiotensin converting enzyme inhibitor)and ARB (angiotensin receptor blocker) in reducing the renal injury induced by hyperoxaluria in patients with Primary Hyperoxaluria. Hypothesis: Calcium oxalate crystal deposition in the kidney causes inflammation and resulting injury to kidney tissue. Angiotensin blockade will improve these changes, thus slowing the progression of renal insufficiency in patients with Primary Hyperoxaluria.
NCT00280215 Hyperoxaluria Drug: ACEI / Angiotensin converting enzyme inhibitor Drug: ARB /Angiotensin Receptor Blocker Drug: Placebo MeSH:Hyperoxaluria, Primary
Homozygosity for the G170R mutation of AGXT h. --- G170R ---
Primary Outcomes
Measure: Two-year change in the urinary markers of renal tubular injury and interstitial fibrosis Time: 2 yearsSecondary Outcomes
Measure: Rate of change in 1. Renal tubular injury markers and 2. Renal function as determined by serum creatinine and creatinine clearance. Time: 2 years2 Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary Hyperoxaluria
The aim of this study is to assess the efficacy and safety of betaine in reducing urine oxalate excretion of Type 1 Primary Hyperoxaluria (PHI) patients. Hypothesis: Betaine will effectively reduce urine oxalate excretion in Primary Hyperoxaluria Type I patients.
NCT00283387 Hyperoxaluria Drug: Betaine Drug: Placebo MeSH:Hyperoxaluria, Primary
Exclusion Criteria: 1. Patients who are fully VB6 responsive (i.e., G170R homozygotes). --- G170R ---
Hyperoxaluria Hyperoxaluria, Primary Our prior genotyping results have shown an association between the G170R allele and the clinical response to VB6. --- G170R ---
Since VB6 is a safe and completely effective treatment for patients homozygous for G170R, we will not study betaine in this group. --- G170R ---
Instead, 20 participants older than 6 years of age who are G170R compound heterozygous, non-G170R missense or truncating sequence change homozygous or heterozygous, will be selected for enrollment. --- G170R ---
Instead, 20 participants older than 6 years of age who are G170R compound heterozygous, non-G170R missense or truncating sequence change homozygous or heterozygous, will be selected for enrollment. --- G170R --- --- G170R ---
Participants in whom VB6 provides a partial reduction in urine oxalate excretion (compound heterozygotes for the G170R mutation) will be maintained on a stable dose of VB6 (8 mg/kg/d) for two months before and throughout betaine treatment. --- G170R ---
Primary Outcomes
Description: The patients were randomly assigned oral betaine or placebo for 2 months, followed by a 2 month washout. Each patient then received the alternate study medication for 2 months. Urinary Oxalate Excretion was measured by oxalate oxidase. Two 24 hour urine collections were obtained at baseline, and during the eighth week of each study period.
Measure: Urinary Oxalate Excretion Time: baseline, 2 months, 6 months