PW02-027 - CAPS and cost-effectiveness analysis project
نویسندگان
چکیده
Introduction Ultra-orphan drugs are medicines used to treat exceptionally rare diseases that are chronically debilitating or life-threatening. Low patient numbers make it difficult for pharmaceutical companies to recoup research and development costs, and consequently these medicines are generally very expensive on a per patient basis. European Union (EU) regulations promote the development of orphan drugs; but to contain costs, EU healthcare systems will increasily need the cost-effectiveness analysis (CEA) of therapies when deciding if they should be funded. Conventional methods for CEA of drugs for common conditions do not apply to ultra-orphan drugs; therefore, additional factors need to be considered.
منابع مشابه
PW02-026 - Low frequency variants of NLRP3 in CAPS patients
Methods All exons of NLRP3 were amplified by PCR (30 cycles) from genomic DNA isolated from PBMCs of healthy controls or CAPS patients. Thereafter, PCR products were concatenated, fragmented and subjected to NGS fragment library preparation followed by Illumina short read sequencing. For SNV calling a customized pipeline on basis of the GATK pipeline (1000 Genomes project) was utilized using a ...
متن کاملPW02-039 - Long-term anakinra treatment in CAPS: a metaanalys
Introduction The common denominator in CAPS (FCAS, MuckleWells syndrome, NOMID/CINCA) is an uncontrolled IL-1b release. An often complete response after treatment with the IL-1 blocker anakinra (Kineret) has been demonstrated in all three entities of CAPS [1-3]. However, the overall documentation is limited due to the inherent difficulties in conducting randomized studies in the more severe for...
متن کاملPW02-041 - Canakinumab treatment regimens in CAPS-patients
Introduction Canakinumab is a recombinant monoclonal fully human antibody against Interleukin-1b and currently the only drug approved for the treatment of CAPS in Europe. Current dose recommendations are 150mg (body weight >40kg) respectively 2mg/kg bodyweight (15 to 40kg) every 8 weeks but yield insufficient response in some individuals, especially in children and patients with severe phenotyp...
متن کاملPW02-033 - Cytokine profile in CSF in CAPS patients
Introduction CAPS is a rare autoinflammatory syndrome caused by autosomal dominant mutations in the NLRP3/CIAS 1 gene on chromosome 1q44 encoding for the cryopyrin protein, an important component of the inflammasome, leading to excessive production of interleukin-1beta (IL-1ß). CAPS encompasses three different entities of variable clinical severity: familial cold auto-inflammatory syndrome (FCA...
متن کاملPW02-034 - NLRP3 mosaicism detection in CAPS using NGS
Methods Six well-defined mutation-negative CAPS patients were included. In addition two CAPS patients that were identified before as mosaics, by a subcloning and Sanger sequencing method, were included for validation purposes. In short, barcoded whole genome fragment libraries were generated for each patient, enriched for the coding regions of 300 inflammation related genes using a custom Agile...
متن کامل