Dandy-Walker (DW) malformation is a rare and severe congenital anomaly of the posterior fossa affecting the development of the cerebellum and the fourth ventricle. The aim of this study was to investigate the epidemiology of DW malformation, using data from the European population-based registries of congenital anomalies in the European Surveillance of Congenital Anomalies network. Anonymous individual data on cases of DW malformation diagnosed in 2002-2015 from 28 registries in 17 countries were included. Prevalence, prenatal detection rate, proportions and types of associated anomalies were estimated. Cases of DW variant were considered and analysed separately. This European population-based study provides the epidemiological profile of DW malformation. All birth outcomes were analysed and TOPFA represented more than half of the cases. About 50% of the cases of DW malformation were associated with other non-cerebral anomalies. Large populations and all birth outcomes are essential in epidemiological studies of rare and severe congenital anomalies. For more information click here.
The access to innovative health technologies remains a main point for debate in the contemporary health policy. Finding a solution that is mutually beneficial for everyone can be extremely complicated, even impossible in certain cases. Recently, interest in regulatory practice has been the ability to enforce compulsory licensing in the pharmaceutical industry. This legal option, or rather the threat of using it, may play a role in negotiating access to new therapies. At the same time, however, it is an extreme measure with many unknown long-term consequences for the health sector and society. For more information click here.
The aim of this study is to perform a clinical and economic evaluation of pasireotide for patients with Cushing’s disease and acromegaly from the Bulgarian health insurance system point of view. A systematic review in internet-based databases for pasireotide efficacy and safety studies was performed. A top-down approach was applied to identify the medicines costs paid by the National Health Insurance Fund (NHIF) for the period 2016-2018. The costs were compared using statistical software MedCalc and extrapolated for the next 3 years applying linear functions. Mann-Whitney test for independent samples was applied for testing statistically significant differences. For more information click here.
Acromegaly is a progressive rare disease associated with excessive growth hormone production. Described by progressive somatic disfigurement (mainly including the face and extremities) and causing multi-systemic arrangements. People with this disease are at risk of severe disability and life-threatening health problems. Acromegaly is a treacherous chronic disease that occurs with increased morbidity and mortality from cardiovascular, metabolic and neoplastic complications. Disease control can easily be assessed with modern clinical and laboratory methods, but the patient’s self-assessment of Wellbeing and Quality of Life is paramount. Although acromegaly is a rare disease, the burden on Health-related Quality of Life (HRQoL) is significant due to the wide range of concomitant complication and the need for lifelong management. The purpose of this review is to present actual data on the epidemiology of acromegaly and the impact of the disease on the Quality of Life of patients. For more information click here.
The new issue of our scientific journal Rare Diseases and Orphan Drugs is now online. The issue contains 9 publications on various topics. The editorial is “Do compulsory licenses have a place in the debate on access to innovative therapies?” If you would like to receive the latest information on rare diseases and orphan drugs, how the diagnostics and treatment is performed Bulgaria, please follow the link.
Created under the 2011 Directive on Patient Rights’ in Cross-Border Healthcare, European Reference Networks (ERNs) are cross-border networks bringing together centres of expertise and reference centres of European hospitals to tackle rare or low prevalence and complex diseases and conditions that require highly specialised healthcare. ERNs enable specialists in Europe to share learnings and discuss complex patient cases, providing advice on the most appropriate diagnosis and the best treatment. A key principle of ERNs is to let the knowledge travel rather than the patient leading to economies of scale and more efficient use of costly resources. 24 ERNs covering all major rare disease groups were launched in March 2017, including 956 highly specialised healthcare units from 313 hospitals located in 26 countries (25 EU Member States plus Norway). Each Network has a Coordinator and the 24 of them are gathered within the ERN Coordinators group (ERN-CG) establishing a common ground on several key technical and organisational aspects of the Networks activities. The Board of Member States (BoMS), as laid out in the European Commission Implementing Decision was set up on 5 February 2014, and consist of the EU Member states and Norway. One of the tasks of the BoMS include the approval of healthcare providers wishing to join existing Networks. For more information and how to apply click here.
Limb-girdle muscular dystrophy (LGMD) consists of over 30 genetic conditions with varying clinical phenotypes primarily affecting pelvic girdle, shoulder girdle, and other proximal limb muscles. Studies focusing on the physical, mental, and social effects of this disease from the patient’s perspective are limited. Adults with LGMD were interviewed and asked to identify issues that have the greatest impact on their quality of life. Each interview was recorded, transcribed, coded, and analyzed. Participants provided 1385 direct quotes. One hundred sixty-five potential symptoms of importance were identified and grouped into 15 larger themes. The most frequently reported themes included limitations with mobility, difficulty performing activities, social role limitations, and emotional distress. There are multiple symptoms that alter the lives of adults with LGMD. These affect their physical, emotional, and social health, and may be amenable to medical intervention. For more information click here.
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare and severely disabling autosomal dominant disease that is yet to be clearly understood. The purpose of this review is to present recent literature on pathophysiology, clinical features, diagnosis and treatment of FOP. FOP is characterized by congenital great toe deformity and progressive heterotopic ossifications in connective tissue. Heterotopic ossifications occur after painful flare-ups that can arise spontaneously or can be triggered by minor trauma. Each flare-up ultimately causes restriction of related-joint, and along with the others eventually leads to immobility. Death is usually caused by pulmonary complications because of chest wall involvement. The causative gene of FOP is activin A receptor type 1 (ACVR1), a bone morphogenetic protein-signalling component, which normally acts to inhibit osteoblastogenesis. The treatment of FOP is still preventive and supportive. Although there are still gaps in the underlying mechanism of FOP, effective treatment options, such as potential pharmacologic targets and cell-based therapies are promising for the future. Some of these were tested without a clinical trial setting, and are currently in the process of evidence-based research. For more information click here.
Systemic mastocytosis (SM) is a rare disease which is characterized by the accumulation of mast cells in >1 extra-cutaneous organ, most often the bone marrow. In the majority of patients, the activating D816V mutation in KIT induces increased proliferation and survival in the neoplastic mast cells. The WHO has formulated criteria for the diagnosis of SM: Most criteria can usually only be obtained by bone marrow (BM) aspiration and biopsy. Due to the heterogeneous clinical picture of SM, it can be challenging to determine when BM examination is indicated. Serum tryptase is often used as a screening tool for SM. For more information click here.
Castleman’s disease is a rare disease of the lymph nodes and related tissues, presenting as angiofollicular or giant lymph node hyperplasia. Although various skin manifestations have been reported to occur in Castleman’s disease, a comprehensive study of cutaneous disorders in Castleman’s disease is lacking. Therefore, the aim of this study was to investigate Castleman’s disease-associated cutaneous disorders. The medical records of 57 patients with Castleman’s disease who visited our hospitals from January 2007 to May 2018 were analysed retrospectively. Patients were classified according to the presence of skin involvement. Plasma variant-type Castleman’s disease and multicentric Castleman’s disease were more commonly found in patients with Castleman’s disease with a cutaneous disorder than in those without a cutaneous disorder. In addition, the skin disorders were classified according to pathomechanisms: immune complex-related (paraneoplastic pemphigus, xanthogranulomas), cytokine-related (vasculitis-like lesion, cherry angioma, hyperpigmentation), and non-specific (pruritus). This study builds on previous case reports of cutaneous disorders in Castleman’s disease and proposes a new classification system. For more information click here.