Latest News

The European Congress of Rare Diseases, the largest patient led rare disease event, was organised as an on-line conference on 14th/15th May 2020. Over 1300 delegates participated, in the congress, which took as its theme ‘the Rare Disease Patient Journey in 2030’. This theme recognises that the next decade holds great potential for improvement. As the EU shapes it’s future policy and spending frameworks, ECRD 2020 provided an opportunity to co-create policy options today, that can lead to a better patient journey in 2030 and beyond.

Recent research informs future improvement in the treatment for people with haemophilia, to inform the introduction of a more targeted approach to inform factor levels required to avoid a bleeding episode associated with physical activity

The European Haematology Association (EHA) hosted a webinar in April 2020 with the Thalassaemia International Federation (TIF), to provide SCD and Thalassaemia patients with an update on the risks and impacts of COVID-19 patients in Europe. HCD Economics attended this event to raise internal level on knowledge and developments as SCD and Thalassaemia are diseases currently being researched by the HCD teams.

As part of a series of webinar’s developed to support the rare disease community, the World orphan drug congress (WCG), hosted part 6 in their series of COVID-19 webinars, on the subject of ‘Considerations When Moving Studies Out of the Clinic Setting’. The expert panel, David Borasky, Vice President of IRB Compliance for WCG, (WIRB-Copernicus Group) and Dawn Furey, Head of Portfolio Delivery Operations, The Janssen Pharmaceutical Companies of Johnson and Johnson and was moderated by Lyndsey McNair, Chief Medical Officer of WCG

During April there have been numerous webinars convened by and in support of the rare disease community. HCD Economics have been attending these events to raise internal level knowledge and developments across the various rare diseases currently being researched by the HCD teams. During May, HCD news will share reports on our news page, in a series entitled Rare Disease Community – COVID-19 update series. Detailed content from all April webinars will be published, to bring reports of the webinar content to our readers who may not have had the opportunity to attend them and for whom a summary plus guidance for further information will be a useful COVID-19/rare disease information resource.

The European Huntington Association and the European Reference Network for Rare Neurological Diseases hosted a webinar on April 6th. The webinar, entitled, ‘Huntington’s Disease and COVID-19 pandemic – a difficult combination’ provided information about the specific risks for HD patients, an update on current HD studies and trials and some advice on how to cope with the new situation. Participants had the opportunity to participate in an extensive open Q and A session and. 14 speakers, including neuropsychologists, neurologists, neurogeneticists and psychiatrists were available to respond to questions and concerns in 18 languages.

Huntington’s Disease Youth Organization (HDYO) has announced the appointment of Hayley Hubberstey to the role of European chair on the board.

Last Friday, HCD’s office administrator Liz won the newly launched HCD Friday pub quiz, with 13 points out of a possible 20. Quizmaster and General Manager, Peter Brown, launched the pub night following a suggestion from one of our Real World Evidence team. The pub uses Microsoft Teams to link all HCD staff, all of whom are now working from home. The conversation flows easily, with much laughter and leg pulling and everyone on the team now looks forward to the virtual Friday gathering, all having a glass or can of their chosen beverage in front of them to toast colleagues.

The potential of gene therapy to transform treatment for patients with haemophilia is entering clinical practice. The literature in adeno-associated viral (AAV) vector-mediated gene therapy demonstrates improvement in endogenous factor levels over sustained periods, significant reduction in annualised bleed rates, lower exogenous factor usage and thus far a positive safety profile. Gene therapy is also associated improvements in the burden of illness for haemophilia patients as measured by HRQoL and economic analysis.