Publications by authors named "D Danese"
Background: Without effective intervention, primary hyperoxaluria type 1 (PH1) causes oxalate-induced kidney damage, leading to end-stage kidney disease and serious complications throughout the body. Although PH1 carries a heavy burden that impacts quality of life, literature on the experiences of those living with PH1 and caring for patients with PH1 is limited. This study aimed to describe the diagnostic journey in PH1 and characterize patients' and caregivers' self-reported experiences throughout the disease course.
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- Hereditary transthyretin (ATTRv) amyloidosis is a severe, progressive disease that greatly impacts physical function and quality of life, and vutrisiran is a new RNA interference therapy designed to reduce the production of transthyretin in patients with this condition.
- The HELIOS-A phase 3 study showed that vutrisiran significantly improved quality of life and physical function metrics compared to an external placebo group, especially in patients with less severe polyneuropathy.
- Key results included notable improvements in various health scores, such as the Norfolk Quality of Life-Diabetic Neuropathy score and Karnofsky Performance Status, indicating the therapy's potential effectiveness and safety for patients with ATTRv amyloidosis.
Background: Primary hyperoxaluria type 1 (PH1) is a rare, severe genetic disease causing increased hepatic oxalate production resulting in urinary stone disease, nephrocalcinosis, and often progressive chronic kidney disease. Little is known about the natural history of urine and plasma oxalate values over time in children with PH1.
Methods: For this retrospective observational study, we analyzed data from genetically confirmed PH1 patients enrolled in the Rare Kidney Stone Consortium PH Registry between 2003 and 2018 who had at least 2 measurements before age 18 years of urine oxalate-to-creatinine ratio (Uox:cr), 24-h urine oxalate excretion normalized to body surface area (24-h Uox), or plasma oxalate concentration (Pox).
Background: Vutrisiran and tafamidis are approved therapies for treating hereditary transthyretin-mediated (ATTRv/hATTR) amyloidosis with polyneuropathy, a rapidly progressive and fatal disease. To assist healthcare decision-makers, an indirect treatment comparison (ITC) was undertaken to explore the comparative efficacy of vutrisiran and tafamidis.
Research Design And Methods: Individual patient data (vutrisiran vs.
Article Synopsis
- The study estimates health state utility values for patients with primary hyperoxaluria type 1 (PH1) and chronic kidney disease (CKD) using three standard assessment methods.
- Utility values showed a stable pattern in early CKD stages but declined significantly in advanced stages (4-5), with a recovery after post-combined liver and kidney transplant (CLKT).
- Results highlight the unique challenges of PH1 compared to other CKD forms, revealing its significant impact on patients' quality of life and emphasizing the need for tailored health economic evaluations.