Publications by authors named "D Schnabel"
Article Synopsis
- Pathogenic variants in the SLC34A1 and SLC34A3 genes, responsible for sodium-phosphate transport, lead to rare phosphate wasting conditions, primarily in children, with various clinical presentations and outcomes.
- A study analyzed data from 113 patients across 90 families, revealing distinct symptoms: SLC34A1 carriers mostly show issues in infancy, while SLC34A3 carriers experience symptoms into childhood and adulthood, including a significantly higher prevalence of chronic kidney disease in adulthood.
- Biochemical markers were similar for both groups, indicating some common underlying mechanisms, and phosphate treatment yielded partial improvements in certain enzyme levels but raised parathyroid hormone levels, suggesting a complex interaction between treatments and kidney function.
Article Synopsis
- The study evaluated the evidence supporting the use of comprehensive genomic profiling (CGP) for cancer patients through an analysis of literature cited in a key coverage memorandum for the FoundationOne CDx test.
- Researchers reviewed 113 studies, finding that most were not conducted within a clinical setting and showed a wide variety of cancer types without consistency in the depth of sequencing.
- The review highlighted significant gaps in evidence, especially lacking rigorous studies that assess how CGP affects clinical outcomes, suggesting a need for better research to guide the approval of such diagnostic tests.
Background: X-linked hypophosphatemia (XLH) is a rare inherited phosphate-wasting disorder associated with bone and dental complications. Health-related quality of life (HRQoL) is reduced in XLH patients on conventional treatment with phosphate supplements and active vitamin D, while information on patients treated with burosumab is rare.
Methods: HRQoL was assessed in 63 pediatric XLH patients participating in a prospective, observational study and patient registry in Germany using the KIDSCREEN-52 survey instrument and standardized qualitative interviews.
Real-world non-interventional post-authorization safety study of long-term use of burosumab in children and adolescents with X-linked hypophosphatemia: first interim analysis.
Annemieke M Boot Gema Ariceta Signe Sparre Beck-Nielsen Maria Luisa Brandi Karine Briot Dirk Schnabel
Ther Adv Chronic Dis
May 2024
Article Synopsis
- - X-linked hypophosphatemia (XLH) is a rare disorder caused by high levels of FGF23, leading to phosphate loss and decreased vitamin D production, while burosumab is a treatment that helps restore phosphate levels by inhibiting FGF23.
- - This post-authorization safety study (PASS) monitors the long-term safety of burosumab in children and adolescents aged 1-17 years, with this first interim analysis focusing on the initial safety outcomes based on registry data.
- - The analysis involved 67 participants, with 37.3% reporting at least one adverse event, primarily musculoskeletal issues; however, there were no serious adverse events or treatment withdrawals, indicating that the safety profile of