Louisiana State University Health Sciences Center in New Orleans is conducting a Natural History Study of the Usher syndrome community in Louisiana to assist in the development of treatments and to raise awareness of the syndrome. More information about the study you can find here: US in LA Natural History Advertisement Flyer
There are only limited treatments currently available for Motor Neurone Disease, each with modest benefits. The New Zealand Motor Neurone Disease Registry was established in 2017 to facilitate participation in research and clinical trials, and to aid researchers in planning and recruitment. The NZ MND Registry collects demographic, contact and clinical data for those who choose to enroll. 12th July 2018, there were 142 participants enrolled in the NZ MND Registry. 85.5% of participants are diagnosed with sporadic MND and 6.1% with familial MND. The registry has facilitated entry of patients into three studies to date. The role of patient registries is an ever changing one, but with clear utility at every point of along the pathway to drug discovery. The whole article you can check here.
The animation clip below is an information video about the European Reference Networks (ERN), released by The European Commission for patients and their health professionals. In the clip is explained what is the ERN, how does it work, how can it help and other relevant information. Under the video you will find the link to the website of the European Commission, where the clip is uploaded.
Enzyme replacement therapy is currently considered the standard of care for the treatment of mucopolysaccharidoses (MPS) type I, II, VI, and IV. This approach has shown substantial efficacy mainly on somatic symptoms of the patients, but no benefit was found for other clinical manifestations, such as neurological involvement. New strategies are currently being tested to address these limitations, in particular to obtain sufficient therapeutic levels in the brain. Intrathecal delivery of recombinant enzymes or chimeric enzymes represent promising approaches in this respect. It is now clear that the clinical manifestations of MPS are not only the direct effects of storage, but also derive from a cascade of secondary events that lead to dysfunction of several cellular processes and pathways. Some of these pathways may represent novel therapeutic targets and allow for development of novel or adjunctive therapies for these disorders. The full article you can read here.
In 2012, the Spanish Rare Disease Registries Research Network (Spain-RDR) was consolidated with the aim of creating a Spanish population-based Rare Diseases Registry. In order to achieve this, each of the 17 Spanish Regions had to develop its own regional registry with a common agreed methodology. The Population-based Rare Disease Registry of Navarre was created in 2013 and, since then, its implementation is been carried out. Initially, the main data source used to capture cases was the Assisted Morbidity Registry of Navarre, which includes the Minimum Basic Data Set of every regional hospital discharges (both public and private). Afterwards, new data sources were been added and ongoing validation studies of captured cases were been developed. Due to the low prevalence of these diseases, a high false positives rate among the detected cases greatly affects the estimation of epidemiological indicators, which makes it necessary to validate the cases by verifying the diagnoses. More information about the registry you can find here.
The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) studies rare genetic disorders not only to achieve diagnoses, but to understand human biology. To ascertain the contribution of protein glycosylation to rare diseases, the NIH UDP used mass spectrometry to agnostically identify abnormalities of N-linked and O-linked glycans in plasma and free oligosaccharides in the urine of 207 patients. The full article you can find here.
The International Rare Diseases Research Consortium (IRDiRC) is aimed at promoting international collaboration and advance rare diseases research worldwide, and has as one of its goals to contribute to 1000 new therapies for rare diseases. IRDiRC set up a Small Population Clinical Trials (SPCT) Task Force in order to address the shortcomings of our understanding in carrying out clinical trials in rare diseases.
Recommendations have been issued based on discussions of the Small Population Clinical Trials Task Force that aim to contribute towards successful therapy development and clinical use. While randomised clinical trials are still considered the gold standard, it is recommended to systematically take into consideration alternative trial design options when studying treatments for a rare disease. Patient engagement is critical in trial design and therapy development, a process which sponsors are encouraged to incorporate when conducting trials and clinical studies. The full article you can find here.
Mucopolysaccharidoses (MPS) comprise a group of lysosomal disorders that are characterized by progressive, systemic clinical manifestations and a coarse phenotype. The different types, having clinical, biochemical, and genetic heterogeneity, share key clinical features in varying combinations, including joint and skeletal dysplasia, coarse facial features, corneal clouding, inguinal or abdominal hernias, recurrent upper respiratory tract infections, heart valve disease, carpal tunnel syndrome, and variable neurological involvement. In the severe forms, these features usually appear in the first months of life, but a correct diagnosis is often reached later when suggestive signs are manifest. All MPS types may have severe or attenuated presentations depending on the residual enzymatic activity of the patient. Based on data from the literature and from personal experience, here we underline the very early signs of the severe forms which should alert the paediatrician on their first appearance. A few early signs are typical of MPS (i.e. gibbus) while many are unspecific (hernias, upper airway infections, organomegaly, etc.), and finding the association of many unspecific signs might prompt the paediatrician to search for a common cause and to carefully look for other more specific signs (gibbus and other skeletal deformities, heart murmur). We stress the need to increase awareness of MPS among paediatricians and other specialists to shorten the still existing diagnostic delay. A timely diagnosis is mandatory for the commencement of treatment as soon as possible, when available, to possibly obtain better results. The full article you can read here.
In Europe, approximately 30 million people live with a rare disease. Prompt diagnosis of rare diseases is crucial for reducing morbidity and mortality, to estimate the risk of recurrence, and to prevent further complications. Diagnostic delay or undiagnosed conditions, estimated to affect around 10%–30% of people with rare diseases, can have serious physical and psychological effects. People with rare diseases and their families often experience loneliness, tiredness, discouragement etc. Health professionals, for their part, can also experience frustration, delusion, distress.
The National Centre for Rare Diseases (NCRD), part of the Italian National Institute of Health (Rome, Italy), acts as the leading technical and scientific body of the Italian Ministry of Health and the National Health System. Since 2008, the NCRD organises a national artistic competition, The Flight of Pegasus, dedicated to rare diseases. The aim of the initiative is to raise public awareness about rare diseases and empower communities through dissemination of scientific knowledge. The competition offers a variety of expressive formats, including narrative stories, poetry, drawing, painting, sculpture, photography, digital art, music composition, and music interpretation. The deadline is until 6th of January, 2019. More information about the competition you can find here.
Rare diseases affect approximately 30 million people in the European Union and present a major health issue. Over 1000 rare skin diseases are known, many of which are of genetic origin and manifest in childhood. One of these diseases is epidermolysis bullosa (EB), a genodermatosis presenting with skin fragility and blistering. With an estimate of up to 2000 affected individuals in Germany, many of these children, but only two specialist centres, the question arose where and how health care for this rare disease is provided. This question was addressed by an online survey of all paediatric and dermatological departments in Germany. More information about the survey you can find here.