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.
orphan drugs
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.
The journal Turkish Journal of Anaesthesiology and Reanimation has published an article regarding the еpidermolysis bullosa. Epidermolysis bullosa (EB) is a rare disease characterised by vesiculobullous lesions with minimal trauma to the skin and mucous membranes. Bleeding, scar tissue, contractures, oedema and lesions that can spread throughout the body can cause a difficult airway and vascular access in patients with EB. Therefore, anaesthetic management in patients with EB is a major problem even for experienced anaesthesiologists. The full-text article you can find here.
The journal Value Health Regional Issues has published an article which aims to present the characteristics of the scorecard health technology assessment (HTA) implemented since 2014 and to show the results of this HTA process by the end of 2015. The health care context and the Romanian HTA legislation were studied while considering the reasons behind HTA introduction, the key stakeholders, and the HTA process as a whole. A critical appraisal was done covering public HTA reports and the decisions made by the Ministry of Health. The full-text article you can find here.
Although neurological morbidity has been consistently described in the congenital heart disease (CHD) population, no studies to date have examined the long-term risk of epilepsy in subjects with CHD compared with the general population. Previous studies, which point toward a heightened risk of epilepsy, include a single-center case series without the benefit of a control population and a subsequent population-based case-control study. The full-text article you can find here.