S. Von Mackensen

Bio: S. Von Mackensen is an academic researcher from University of Milan. The author has contributed to research in topics: Randomized controlled trial & Arthropathy. The author has an hindex of 4, co-authored 4 publications receiving 488 citations. Previous affiliations of S. Von Mackensen include Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico.

Lebensqualität von jungen Patienten mit Hämophilie in Europa

Abstract: Haemophilia, an inherited x-linked bleeding disorder, is a rare disease with comparable prevalence worldwide, which leads to early disability if untreated, and which, if treated via substitution of blood clotting factor, is associated with high treatment costs. Recent research has focused on bio-psychosocial consequences of treatment from the patient's perspective, in order to identify new treatment approaches, to quantify the patient benefit, and to compare haemophilia care across countries. For this, generic and disease-specific instruments have been developed and are currently being used in studies. The present paper describes clinical aspects of haemophilia as well as the assessment of quality of life and proceeds to introduce two recent studies on quality of life of children and adolescents with haemophilia in Europe. The HAEMO-QoL study investigated the quality of life of 339 children with haemophilia age 4 and above from six European countries. A total of 1,424 patients from 21 European countries participated in the ESCHQoL study, among these were 444 children aged 4 and above years. In both studies clinical data, information about health care and psychosocial determinants such as coping, life satisfaction and social support were assessed. Significant differences in quality of life between countries were found. Psychosocial determinants were associated with quality of life. Current analyses suggest that important determinants for quality of life are availability of factor concentrate from the clinical side and social support from the psychosocial side. The difference in quality of life across countries is a future major health-political challenge.

Guidelines for the management of hemophilia.

Abstract: Hemophilia is a rare disorder that is complex to diagnose and to manage. These evidence-based guidelines offer practical recommendations on the diagnosis and general management of hemophilia, as well as the management of complications including musculoskeletal issues, inhibitors, and transfusion-transmitted infections. By compiling these guidelines, the World Federation of Hemophilia aims to assist healthcare providers seeking to initiate and/or maintain hemophilia care programs, encourage practice harmonization around the world and, where recommendations lack adequate evidence, stimulate appropriate studies.

Targeting of Antithrombin in Hemophilia A or B with RNAi Therapy

Abstract: BackgroundCurrent hemophilia treatment involves frequent intravenous infusions of clotting factors, which is associated with variable hemostatic protection, a high treatment burden, and a risk of the development of inhibitory alloantibodies. Fitusiran, an investigational RNA interference (RNAi) therapy that targets antithrombin (encoded by SERPINC1), is in development to address these and other limitations. MethodsIn this phase 1 dose-escalation study, we enrolled 4 healthy volunteers and 25 participants with moderate or severe hemophilia A or B who did not have inhibitory alloantibodies. Healthy volunteers received a single subcutaneous injection of fitusiran (at a dose of 0.03 mg per kilogram of body weight) or placebo. The participants with hemophilia received three injections of fitusiran administered either once weekly (at a dose of 0.015, 0.045, or 0.075 mg per kilogram) or once monthly (at a dose of 0.225, 0.45, 0.9, or 1.8 mg per kilogram or a fixed dose of 80 mg). The study objectives were to ass...