A landmark decision: Belgium and the Netherlands to jointly negotiate purchase of orphan drugs
Minister Edith Schippers of Public Health of the Netherlands and her Belgian counterpart Maggie de Block are teaming up to negotiatiate the prices of expensive drugs with pharmaceutical companies. They have recently issued a statement affirming this collaboration for the purchase of orphan drugs with pharmaceutical groups. Despite the incentives put in place by regulators to produce drugs for rare diseases, pharmaceutical companies often have to recuperate sizeable research costs from a small patient pool, leading to high prices per patient. These prices can be exorbitant which leads to limited access to treatments in many countries.
This is the first instance where two countries are coming together to negotiate prices of orphan drugs and therefore be able to bargain a lower price from the pharmaceutical companies. This decision comes on the heels of the current cost-effectiveness debate and on joint effort to assess properly the added-clinical value of each new drug. This agreement was made on 20 April, 2015 during European Council of Health Ministers in Riga. Representative from both countries believe that working together will enable them to represent more patients and hence be able to “easily negotiate a lower price without sacrificing quality."
A test run will be launched next year, the results of which will be appraised by both health ministers to evaluate the future direction of the initiative. Schippers and De Block hope that other countries will join the initiative after a successful test run as some have showed interest in this initiative in Riga.
A review of the Life Saving Drugs Programme (LSDP) which reimburses orphan drugs in Australia is currently in progress. An issues paper on this topic is currently open for public comment until 18 May 2015. Interested organisations and individuals are invited to provide a submission addressing the Issues Paper as well as comment on the draft LSDP Technical Assessment Report.
The 208th ENMC international workshop brought together twenty-two experts in the field of Pompe disease from nine European countries who gathered in Naarden, the Netherlands in September 2014. The workshop was dedicated towards advancing research on this disorder and provide expert opinion and guidance in clinical areas. A paper detailing the proceedings of the workshop has recently been published in Neuromuscular Disorders. The workshop addressed the important issues of “establishing a European Network on Pompe disease, agreeing on a minimal dataset of outcome measures for adult patients, and developing recommendations on start and stop criteria for ERT for adult Pompe patients . They also decided that the network will serve as an “international contact point for health authorities, to provide advice and expertise on Pompe disease”. 
Rio Tinto Alcan has donated CAD 3 million donation to support the creation of a Centre for Rare Genetic Disorders at CHU Sainte-Justine, a well known paediatric and obstetric university health centre affiliated with the Université de Montréal, in Canada. According to the press release of the hospital, the centre will aim to provide support children and their family members who are living with rare genetic conditions, in the Quebec province. CHU Sainte-Justine has said that since this will be the only facility of its kind in Quebec, it will “improve patient care and health outcomes through faster and earlier diagnosis, and the development of effective treatments based on future discoveries”. 
A article published in the ACMG Sequence reviews the effect United States Presidents Precision Medicine Initiative will have on the paediatric population, especially children with rare diseases. Out of the USD 215 million earmarked for this initiative, USD 130 will be given to the National Institutes of Health (NIH) to create a voluntary, national research cohort of one million or more individuals. However, the author of this article notes that whether the paediatric population will be represented in this cohort is not known. The author brings forth remarks of several scientists who believe that NIH efforts focusing on rare paediatric genetic diseases, outside of this initiative, is already providing much needed knowledge to the field and believes that paediatric genetics should make this information known to NIH in order to be represented in this initiative. 
Based on the French newborn screening program and data from the Reference Center immunodeficiencies (CEREDIH), the authors of an article published in The Journal of Allergy and Clinical Immunology analysed the costs and potential savings related to early management of severe combined immunodeficiency. 30 patients with severe combined immunodeficiency were included in this study. Of these, 27 underwent hematopoietic stem cells after the age of 3 months and 3 underwent transplantation before 3 months. One year after transplantation, 10 of the 27 patients who underwent transplantation after 3 months of age had died, and the 3 patients who underwent early transplantation were all alive. Medical expenses for hematopoietic stem cells after the age of three months amounted to €195,776, while when the transplant was performed before the age of 3 months, costs returned to €86,179. This is explained by the fact that patients who underwent transplants later had active infections caused increased costs with worse outcomes. According to the authors, early detection of severe combined immunodeficiency reduces the cost of treatment from €50 000 to €100 000 per case. While estimating the cost of the test at €5, the incidence required to achieve breakeven should be 1 in 20,000 people. However, the incidence of this disease is estimated between 1 in 50,000 and 1 in 100,000 people. However, if the higher survival rate after early hematopoietic stem cells were to be confirmed, universal screening is likely to be profitable. 
