The journal Orphanet Journal of Rare Diseases has published an article about the research for rare genetic disease. Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing little attention from the medical community or the pharmaceutical industry. The challenge therefore is how best to mobilize rare disease stakeholders to enhance basic, translational and clinical research to advance understanding of pathogenesis and accelerate therapy development. The full-text article you can find here.
The journal Developmental Period Medicine has published an article about arthrogryposis multiplex congenital. Arthrogryposis multiplex congenital (AMC) is a heterogeneous disorder, characterized by nonprogressive multiple intra-articular contractures, which can be recognized at birth. The prevalence in Europe is estimated at about 1 per 12,000. Etiopathogenesis of arthrogryposis is multifactorial. The full-text article you can find here.
The journal Wiener Klinische Wochenschrift has published an article about addressing the diverse and complex issues of rare diseases. Accurately addressing the diverse and complex issues of rare diseases (RD) in terms of prevention, recognition, diagnosis, treatment, care and research along key RD specificities, such as great heterogeneity, a limited number of patients, scarcity of relevant knowledge and expertise as well as enormous costs for patient care is a challenging task for healthcare providers and authorities that makes a supranational approach particularly feasible. The European Union has acknowledged RD matters by several initiatives, including efforts to implement national centres of expertise and European reference networks as well as a cross-border referral mechanism to foster access to expert services and to boost dissemination of clinical expertise and research activities. Exemplified by the EB House Austria, a centre of expertise for epidermolysis bullosa cross-linked with international reference partner institutions. The full-text article you can find here.
The journal Current Opinion in Neurology has published an article about the Huntington’s disease. Huntington’s disease-like 2 (HDL2) is a rare, progressive, autosomal dominant neurodegenerative disorder that genetically, clinically, and pathologically closely resembles Huntington’s disease. Studies examining in parallel the genetic, clinical, neuropathological, and mechanistic similarities between Huntington’s disease and HDL2 have begun to identify points of convergence between the pathogenic pathways of the two diseases. The full-text article you can find here.
The journal Hemophilia: The Official Journal of the World Federation of Hemophilia has published an article about measuring the quality of haemophilia care across different settings. Haemophilia is a rare disease for which quality of care varies around the world. The guiding criteria for selection of possible indicators were ease of calculation and direct applicability to a wide range of countries with basic data collection capacities. The full-text article you can find here.
The journal Clinical and Experimental Immunology has published an article about comparing acquired angioedema with hereditary angioedema (type I/II). Icatibant is approved for hereditary angioedema with C1 inhibitor deficiency type I/II (C1-INH-HAE type I/II) and has shown promise in treatment of angioedema due to acquired C1 inhibitor deficiency (C1-INH-AAE). Data from the Icatibant Outcome Survey was analyzed to evaluate effectiveness of icatibant in the treatment of patients with C1-INH-AAE and compare disease characteristics with those with C1-INH-HAE type I/II. The full-text article you can find here.
The journal Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society has published a study about cystic fibrosis. Cystic fibrosis (CF) is a rare fatal genetic disease, affecting 70,000 to 100,000 people worldwide. A set of questions was sent to 25 CF charitable organizations around the world by email. Among respondents, there were variations in the amount of funds invested in research annually and the number of studies supported. The full-text study you can find here.
The journal Clinical Therapeutics has published an article with the topic “What Can Big Data Offer the Pharmacovigilance of Orphan Drugs”. The pharmacovigilance of drugs for orphan diseases presents problems related to the small patient population. Obtaining high-quality information on individual reports of suspected adverse reactions is of particular importance for the pharmacovigilance of orphan drugs. The possibility of mining “big data” to detect suspected adverse reactions is being explored in pharmacovigilance generally but may have limited application to orphan drugs. The full-text article you can find here.
The journal Pediatric Blood & Cancer has published a study about the childhood immune thrombocytopenia. Nationwide prospective cohort study was conducted exploring the factors associated with treatment initiation (vs. watchful waiting) in children with primary immune thrombocytopenia (ITP) followed in routine clinical practice and the predictors of chronicity at 12 months. Between 2008 and 2013, 23 centers throughout France consecutively included 257 children aged 6 months-18 years and diagnosed with primary ITP over a 5-year period. One hundred thirty-seven (53%) children were males, median age was 4.6 years, median platelet count was 7 × 10^9/l, and 214 (81%) patients initiated medication. The full-text of the study you can find here.
The journal Оrphanet Journal of Rare Diseases has published an article regarding the health technology assessment of drugs for rare diseases. In this article, the journal aims to comprehensively review, characterize, identify possible trends, and explore reasons for negative reimbursement recommendations in submissions made to the Common Drug Review (CDR) for drugs for rare diseases (DRD) at the Canadian Agency for Drugs and Technologies in Health (CADTH), a publicly funded pan-Canadian health technology assessment agency. The full-text article you can find here.