expression profile and clinical significance of ferroptosis related genes in peripheral blood mononuclear cells of patients with systemic sclerosis

Original title: “Expression Profile and Clinical Significance of Ferroptosis-Related Genes in Peripheral Blood Mononuclear Cells of Patients with Systemic Sclerosis.”

phosphodiesterase 5 inhibitors but not calcium channel blockers improve peripheral vascular function in systemic sclerosis

Original title: “Phosphodiesterase-5 inhibitors, but not calcium channel blockers, improve peripheral vascular function in systemic sclerosis.”

neurofibrillary tangle distribution in posterior cortical atrophy and typical early onset alzheimer s disease

Original title: “Neurofibrillary tangle distribution in posterior cortical atrophy and typical early-onset Alzheimer's Disease.”

pleural epithelioid haemangioendothelioma presenting with chest tightness and cough in a 65 year old woman

Original title: “Pleural epithelioid haemangioendothelioma presenting with chest tightness and cough in a 65-year-old woman.”

outcomes and predictors of treatment response in patients with pure lupus membranous nephropathy

Original title: “Outcomes and Predictors of Treatment Response in Patients With Pure Lupus Membranous Nephropathy.”

left ventricular contrast staining during venoarterial extracorporeal membrane oxygenation

Original title: “Left ventricular contrast staining during venoarterial extracorporeal membrane oxygenation.”

low grade serous ovarian cancer in indonesia insights from the largest multicenter cohort in a middle income country

Original title: “Low-grade serous ovarian cancer in Indonesia: Insights from the largest multicenter cohort in a middle-income country.”

tissue specific expression and regulation of congenital disorders of glycosylation genes a gtex based in silico study

Original title: “Tissue-specific expression and regulation of congenital disorders of glycosylation genes: A GTEx-based in silico study.”

expanding the phenotypic and genotypic spectrum of kcnt1 related epilepsies

Original title: “Expanding the phenotypic and genotypic spectrum of KCNT1-related epilepsies.”

central sleep apnea in renal and endocrine disease

Original title: “Central Sleep Apnea in Renal and Endocrine Disease.”

Real-world data are becoming increasingly important in rare disease development, particularly where small trials cannot capture every aspect of patient experience. Yang said real-world evidence can help show how a therapy affects patients beyond a narrow clinical endpoint. “What it comes down to is the holistic approach,” he said. “Real-world data shows how a treatment ... Real-world data are becoming increasingly important in rare disease development, particularly where small trials cannot capture every aspect of patient experience. Yang said real-world evidence can help show how a therapy affects patients beyond a narrow clinical endpoint. “What it comes down to is the holistic approach,” he said. “Real-world data shows how a treatment is actually helping kids, and not just its effect on a small biomarker or certain symptoms. For companies developing therapies in pediatric lysosomal storage disorders, flexibility will be essential with newer models and approaches in rare disease trials. In conditions where patient numbers are small, disease progression is variable and treatment options remain limited, the success of a clinical program may depend as much on trial design as on the therapeutic mechanism itself. Safety, ease of administration, clinical benefit, quality of life and biomarker changes all contribute to the overall evidence package. For PLX-200, Yang pointed to the potential advantage of an oral solution that could be administered more easily than more invasive approaches used in some rare neurologic diseases. He contrasted the quality-of-life implications of a treatment taken at home with therapies that may require frequent hospital visits or invasive delivery procedures. This helps shape how the therapy’s overall value may be assessed. For pediatric rare diseases, a treatment that is safer, easier to administer and broadly applicable could have meaningful clinical and practical advantages.

Original title: “Why Rare Disease Trial Design Requires the “Right Patients at the Right Time” - Xtalks”

accurately modeling rnase h mediated antisense oligonucleotide efficacy

Original title: “Accurately modeling RNase H-mediated antisense oligonucleotide efficacy.”