To prepare for the introduction of gene therapies in haemophilia care, healthcare frameworks for evaluation and valuation will need to evolve to address the unique requirements of current and future innovations for treating this rare disease. The papers in this supplement provide an insightful and comprehensive state-of-the-art assessment of these requirements and challenges. In terms of evaluation, the definition of a patient-defined value framework that captures multi-dimensional, patient-centered outcomes is an important first step for determining the full benefit of gene therapy for persons with haemophilia. In terms of valuation and rewards for innovation, health systems will need to develop alternative payment models for risk-sharing that will allow payers and society to address uncertainties about the ultimate clinical and economic value of these innovations. And health technology assessment authorities will need to exercise greater flexibility in evidence requirements given the unique features of data collection for a potentially curative therapy for a rare disease with long-term uncertainties about durability of impact. Collaboration among stakeholders will be essential for developing the critical evidence requirements and providing the incentives needed to achieve sustainable budgets and broad access for persons with haemophilia worldwide.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1111/hae.14439 | DOI Listing |
Naunyn Schmiedebergs Arch Pharmacol
January 2025
Department of Pharmaceutical Technology, Shree S K Patel College of Pharmaceutical Education and Research, Ganpat University, 384012, Mahesana, Gujarat, India.
Erdheim-Chester disease (ECD) is a rare form of non-LCH characterized by excessive accumulation of histiocytes in various tissues, leading to significant morbidity. The estimated prevalence of ECD is low, with fewer than 1000 cases reported globally, yet it presents considerable clinical challenges due to its heterogeneous manifestations, which include bone pain, cardiovascular complications, and neurological symptoms. Traditional treatment approaches, primarily involving corticosteroids and chemotherapy, have limitations, including inconsistent responses and significant side effects.
View Article and Find Full Text PDFJ Comp Eff Res
January 2025
Department of Epidemiology, Merck Healthcare KGaA, Darmstadt, Germany.
exon 14 ex14) skipping occurs in 3-4% of non-small-cell lung cancer (NSCLC) cases. Low frequency of this alteration necessitated open-label, single-arm trials to investigate MET inhibitors. Since broad MET biomarker testing was only recently introduced in many countries, there is a lack of historical real-world data from patients with ex14 skipping NSCLC receiving conventional therapies.
View Article and Find Full Text PDFPerit Dial Int
January 2025
Renal Physiology and Dialysis Group, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
J Org Chem
January 2025
School of Pharmaceutical Science, The First Affiliated Hospital, Hengyang Medical School, University of South China, Hengyang, Hunan 421001, China.
We report a photoredox-catalyzed three-component sulfonaminoalkynylation of alkenes with -aminopyridine salts and potassium alkynyltrifluoroborate salts. This aminoalkylation reaction underwent a radial/polar crossover mechanism, which was distinguished from the previous reports. A variety of β-alkynylated sulfonamides were obtained in moderate to excellent yields.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.
Background: Leber congenital amaurosis (LCA), the most severe form of inherited retinal dystrophy, is a rare, heterogeneous, genetic eye disease associated with severe congenital visual impairment. RPE65, one of the causative genes for LCA, encodes retinoid isomerohydrolase, an enzyme that plays a critical role in regenerating visual pigment in photoreceptor cells.
Methods: Exome sequencing (ES) was performed on a patient with suspected LCA.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!