Publications by authors named "J Kuemmerle-Deschner"
Introduction: Interim analysis of the long-term safety and effectiveness of canakinumab, at a patient level, in the mevalonate kinase deficiency/hyperimmunoglobulin-D syndrome (MKD/HIDS) cohort of the RELIANCE registry.
Methods: From June 2018, the RELIANCE registry enrolled paediatric (aged ≥ 2 years) and adult patients (aged ≥ 18 years) with MKD/HIDS who were receiving canakinumab as part of their routine medical care. Safety, physician- and patient-reported measures of disease activity and dosing patterns were evaluated at baseline and every 6 months until end-of-study visit.
Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. This comprehensive review provides an updated perspective on MKD, including its aetiology, pathogenesis, diagnostic modalities, and therapeutic strategies. Based on recent research and clinical advances, our objective is to bridge the knowledge gaps in the 2015 SHARE guidelines.
View Article and Find Full Text PDFBackground: Regular physical activity (PA) has been proven to help prevent non-communicable diseases and is beneficial for disease management in chronically ill populations. Physical inactivity and recreational screen-based media (SBM) use are related to poor health outcomes and common among youth. This study aimed to (1) investigate PA levels and recreational SBM use of adolescents with JIA over time and (2) compare these behaviours with those of their peers.
View Article and Find Full Text PDFArticle Synopsis
- The study aimed to assess the long-term effectiveness and safety of autologous hematopoietic stem cell transplantation (AHSCT) for severe autoimmune diseases in children and adolescents.
- Seven patients with various autoimmune conditions underwent AHSCT, showing a median progression-free survival of 4.2 years and overall survival rate of 100%, with most in clinical remission after a long follow-up.
- Despite some safety concerns, including infections and new autoimmune diseases, the results indicate that AHSCT can be a promising treatment for these challenging cases.
Objectives: Cryopyrin-Associated Periodic Syndromes (CAPS) encompasses a spectrum of Interleukin-1 (IL-1) driven systemic diseases with dramatic individual and societal burden. The study aimed to identify parameters and instruments to refine real-life Treat-to-Target (T2T) strategies and control CAPS disease activity.
Methods: A single-centre, longitudinal study of consecutive children and adults diagnosed with CAPS and treated with anti-IL-1 therapy was performed.