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The Nobel Prize winner of the Medicine Award in 1993, Prof. Philip Sharp will visit “Alexandrovska” University Hospital. Prof.Sharp will give a lecture on “RNA interference and its medical applications” on 12th July 2019 at 11.00h in the “Maxima” auditorium of University Hospital “St. Ekaterina”, Sofia. The audience will include academic researchers, neurologists, specialistis in medical genetics, biology, chemistry and biochemistry. Representatives of patients’ organizations of people with rare diseases, journalists, medical professionals and others are also invited. There will be a discussion after the end of the lecture on which Prof. Sharp will answer questions from the audience. The press release of the event can be downloaded from this link.
For the tenth consecutive year, the Institute for Rare Diseases and Orphan Drugs organises a national conference. This year the conference will be held under the patronage of the Health Commission at the 44th National Assembly of the Republic of Bulgaria.
“Within its remit, the Health Commission has always been an open partner to support the efforts of institutions and non-governmental organizations to improve the development of prevention, diagnosis, treatment, rehabilitation and social care for people with rare diseases,” the letter said Dr. Daniela Daritkova.
The main topic of the event will be the novelties and current trends in the diagnosis, treatment and follow-up of rare diseases, the development of European reference networks and access to innovation in the field of rare diseases.
The 15th anniversary of the Information Center for Rare Diseases and Orphan Drugs (ICRDOD) will also be celebrated during the event. The Information Center started its activity in 2004 as the first information center of its kind in Eastern Europe dedicated to patients, organizations and medical specialists with an interest in rare diseases and orphan drugs. ICRDOD has been developing over the past 15 years with the support and assistance of 26 volunteer consultants – leading medical specialists from the university clinics in Bulgaria. For more information click here.
Rare diseases (RDs) affect a small percentage of the population but can be severely debilitating and life-threatening. Historically, patient groups (PGs) have been the prime movers in raising awareness about these diseases and advocating for national supportive policies. They have also driven relevant research programs. In India too, PGs have made significant contributions to the national RD ecosystem. The objective is to assess the contribution of various Indian RD PGs, we carried out an interview-based study of 19 organizations. This study aims to highlight the origins and achievements of these groups and the challenges that they have faced. Of the 19 PGs, two are umbrella organizations, two are other organizations of national scope and 15 are disease specific groups. 14 interviewees were affected by an RD either directly or through a family member. If reinstated, and properly implemented, this policy could significantly improve RD management in the country. PGs have had a significant role in bringing diagnostics and treatments to India. They have also raised awareness about RDs and related issues such as newborn screening, prenatal diagnostics and genetic counselling. This study highlighted the recommendations of various PGs. The government should address these recommendations and institutionalize the participation of the PGs in formal decision making. For more information click here.
EU patients still face challenges in benefiting from the actions envisaged by the EU directive on cross-border healthcare, according to a new report by the European Court of Auditors. Only a minority of potential patients are aware of their rights to seek medical care abroad. At the same time, the auditors also found problems and delays in exchanging patient health data electronically between Member States. Moreover, actions to facilitate access to healthcare for rare disease patients need to be improved. For more information click here.
Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to treat the neonatal life-threatening manifestations and has been the cornerstone of treatment for this severe disease. However, burdensome complications occur despite a lifelong diet. For rare diseases, a patient disease specific registry is fundamental to monitor the lifespan pathology and to evaluate the safety and efficacy of potential therapies. In 2014, the international Galactosemias Network (GalNet) developed a web-based patient registry for this disease, the GalNet Registry. The aim was to delineate the natural history of classic galactosemia based on a large dataset of patients. Observational data derived from 15 countries and 32 centers including 509 patients were acquired between December 2014 and July 2018. Most affected patients experienced neonatal manifestations (79.8%) and despite following a diet developed brain impairments (85.0%), primary ovarian insufficiency (79.7%) and a diminished bone mineral density (26.5%). Newborn screening, age at onset of dietary treatment, strictness of the galactose-restricted diet, p.Gln188Arg mutation and GALT enzyme activity influenced the clinical picture. Detection by newborn screening and commencement of diet in the first week of life were associated with a more favorable outcome. A homozygous p.Gln188Arg mutation, GALT enzyme activity of ≤ 1% and strict galactose restriction were associated with a less favorable outcome. For more information click here.
Acromegaly is a rare disease with vocal changes being a common clinical finding. The authors present a very rare case of an opera singer with undetected acromegaly for years, whose tessiture progressively changed from tenor, to baritone, to bass. We analyze the evolution of vocal parameters over the years and the outcome after surgical treatment. For more information click here.
Neural tube defects (NTD’s) represent a group of severe congenital abnormalities that are associated with high mortality, adverse outcomes and long-term disabilities, as well as significant emotional, psychological and economic consequences. Every year, approximately 5 000 cases of NTD’s occur in the EU. Most of them are diagnosed prenatally with subsequent termination of pregnancy. Preconceptual intake of folic acid has been found to significantly reduce the risk for NTD’s. Nevertheless, to date, there are no folic acid programs available in European countries for women in reproductive age or, in particular, for those who are planning a pregnancy. The publication aims to present and analyze new trends in the use of folic acid as a primary prevention of rare genetic diseases. For more information click here.
Synonym(s):Epilepsy-dementia-amelogenesis imperfecta syndrome
Kohlschutter-Tonz syndrome
ICD-10: G40.8
ORPHANET number: ORPHA1946
For more information about this disease, please visit the Orphanet website.
Visitors from North America may also contact NIH Office of Rare Diseases Research website.
The team of the Institute for Rare Diseases has published a new scientific study. The aim of the study is to analyze the views of Bulgarian oncologists and hematologists regarding the value of innovative pharmaceutical treatments in their clinical area. Physicians were invited to review a life-prolonging scenario and to indicate what minimum improvement in median survival a new treatment would have to generate for them to recommend it over the standard of care. Respondents were also asked to state the highest cost at which they would recommend a new therapy that would improve patient’s health-related quality of life (HRQoL) but would have no impact on survival. In addition, physicians were asked whether they would consider different responses under certain circumstances. Responses were used to calculate incremental cost-effectiveness ratios (ICERs) for each scenario. They found a high willingness-to-pay for innovative drugs in oncology and hematology. The wide range of responses observed, however, indirectly implies a lack of consensus on the use of explicit ICER thresholds in Bulgaria. For more information click here.
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