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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.

Rare Disease Day 2020 - raising awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. Rare Disease Day will be on February 29th 2020. As a research partner and advocate for the rare disease community, HCD Economics is sharing news of this event with our website community.

HCD’s Hayley Hubberstey, Real World Evidence Manager and Dr Harpal Dhillon, Global Medical Affairs Director attended ASH in December 2019 for the shared objective to learn the latest in terms of medical advances/understanding in HCD’s research areas of Sickle Cell Disease and Haemophilia and to identify 2020 research areas, that would benefit from the patient empowered methodology HCD has pioneered, alongside a need in the future research area to unearth evidence of burden of illness and provide expertise pro bono, in support of patient and political advocacy.

The International Gaucher Alliance (IGA) publishes a regular monthly newsletter. In the November 2019 edition reports are filed from all parts of the IGA organisation, including established and emerging National members of the Gaucher community such as Belgium, Albania, Pakistan and the United States.

Hayley Hubberstey, HCD Economics Real World Evidence (RWE) lead for research in Sickle Cell Disease, attended ASCAT last week (21st – 23rd October) and shares her selection of highlights from the conference in this report, and comments on how these inform and support the need for RWE research in SCD.