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Parents of children with rare diseases face pervasive challenges in meeting medical and social care needs. Existing research on the parents’ experience of caring for a child with a rare disease is limited. Fifteen parents of children with rare diseases participated in semi structured interviews. Interpretive thematic analysis reveales that due to the rarity of the disease and an overall lack of knowledge of the disease, there is an increase in the burden on the family. To read further more about the study and the results of it check here.
Recombinant von Willebrand factor (rVWF) demonstrates efficacy for on-demand treatment of bleeding in severe von Willebrand disease (VWD). The study evaluates the hemostatic efficacy/safety profile of rVWF, with/without recombinant factor VIII (rFVIII), in patients with severe VWD undergoing surgery. The collected data supports the efficacy and safety profile of rVWF in patients with severe VWD undergoing elective surgery. To read further more about the study and the results of it check here.
Oral examination of 73 patients with OI is performed and OI type I, III, and IV are represented by 75.3%, 8.2%, and 16.4%, respectively. Patients are diagnosed as having dentinogenesis imperfecta (DI) if they have clinical and radiological signs of DI. In the data analysis, mild OI (type I) is compared to moderate-severe OI (type III and IV).
One fourth of patients with OI have DI, and the vast majority of them have moderate-severe OI. Whereas discoloration of teeth, cervical constriction and pulp obliteration are frequent findings in patients with moderate-severe OI, pulp stones and taurodontism are found in patients with mild OI only. More information about the characteristics of OI in the Danish adult population you can find here.
Where there are a limited number of patients, such as in a rare disease, clinical trials in these small populations present several challenges, including statistical issues. This leads to an EU FP7 call for proposals in 2013. One of the three projects funded is the Innovative Methodology for Small Populations Research (InSPiRe) project. The InSPiRe project leads to development of novel statistical methodology for clinical trials in small populations in four areas. In addition it is produced a free software in order to facilitate implementation of the novel methods. More information about the project you can find here.
The tuberous sclerosis complex is a rare disease, with autosomal dominant transmission, with multisystemic involvement including ophthalmologic. Retinal hamartomas and retinal achromic patch are the most frequent ocular findings. Other ophthalmic signs and symptoms are relatively rare in this disease.We describe the case of a young woman with tuberous sclerosis who presented with horizontal binocular diplopia and decreased visual acuity without complaints of nausea, vomiting or headache. More about the case you can find here.
This study provides a more in-depth understanding of the effect of the Orphan Drug Act by investigating all types of drug approvals with an orphan designation, along with multiple characteristics of the drugs, over the entire 35 years of the Act. The data suggest that the Orphan Drug Act appears to have stimulated significant drug development for rare diseases. Additionally, approvals of orphan indications have been increasing over time. More information you can find here.
Acromegaly is a rare disease, caused largely by a growth hormone (GH) pituitary adenoma. Incidence is higher than previously thought. Due to increased morbidity and mortality, if not appropriately treated, early diagnosis efforts are essential. Screening is recommended for all patients with clinical features of GH excess. There is increased knowledge that classical diagnostic criteria no longer apply to all, and some patients can have GH excess with normal GH response to glucose. Treatment is multifactorial and personalised therapy is advised. For more information, please click here.
A rare disease has been defined in the EU as a disease that affects no more than five in 10,000 people. A study to support the evaluation shall also take into account the links between the areas of orphan and paediatric medicines, as a considerable number of paediatric diseases also qualify as a rare disease.
This consultation concerns both medicines for rare diseases and paediatric diseases that qualify as rare.
With this consultation, the European Commission asks private citizens and healthcare professionals to share their experiences with and perspectives on access to orphan medicines in general, and on the role the EU Orphan Regulation plays in the development of
orphan medicines. More information you can find here.
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