A Natural History Study of Patients With Genetically Confirmed Primary Hyperoxaluria Type 3 and, as Applicable Per Age, a History of Stone Events
Overview
- Phase
- N/A
- Intervention
- Not specified
- Conditions
- Primary Hyperoxaluria Type 3
- Sponsor
- Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
- Enrollment
- 7
- Locations
- 1
- Primary Endpoint
- Collect stone formation data in PH3 patients
- Status
- Completed
- Last Updated
- last year
Overview
Brief Summary
This is a natural history study of adults, adolescents, and children (starting at birth) with genetically confirmed primary hyperoxaluria type 3 (PH3) who have a history of stone events during the last 3 years and/or the presence of pre existing stones detected by renal ultrasound at screening.
Detailed Description
The relationship between the level of Uox and the incidence of kidney stones and/or nephrocalcinosis in patients with PH3 has not been established. The goal of this study is to record 24-hour Uox levels and the incidence of new stone formation and/or the degree of nephrocalcinosis in patients with PH3 over time. Potential participants are screened over an up-to-7 week period according to the eligibility criteria and will then be followed every 6 months over an up-to-2-year period to determine the annualized new stone formation rate (number of new stones being formed per year) and the change in the degree of nephrocalcinosis (if applicable). New stone formation is defined as occurrence of any of the following: * Spontaneous stone passage in the absence of pre-existing stones * Stone passage occurring without change in the number of pre-existing stones detected by renal ultrasound * Appearance of new stones on renal ultrasound or 100% or more growth of a pre-existing stone (estimated area) * Surgical removal of newly formed stones Note: Spontaneous passage or surgical removal of pre-existing stones does not meet the criteria for new stone formation. This is a non-interventional study that will last up to 2 years.
Investigators
Eligibility Criteria
Inclusion Criteria
- Not provided
Exclusion Criteria
- •Prior or planned liver transplant within study period
- •Currently receiving dialysis or anticipating dialysis during study period
- •Unwillingness to comply with study procedures
Outcomes
Primary Outcomes
Collect stone formation data in PH3 patients
Time Frame: Assess participants' stone formation rates over the course of 2 years
Collect data on the rate of new stone formation in PH3 patients of at least 2 years of age
Assess relationship between urine oxalate (Uox) levels and stone formations in PH3 patients
Time Frame: Measure participants' Uox levels over the course of 2 years
Explore the potential relationship between Uox levels and new stone formation in patients (≥ 2 years of age) with genetically confirmed PH3 and relatively intact renal function
Collect data on the degree of nephrocalcinosis in PH3 patients
Time Frame: Assess the change in nephrocalcinosis grade over the course of 2 years
Collect data on the degree of nephrocalcinosis in PH3 patients of at least 2 years of age