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HFACT Newsletter June 2016

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HFACT Newsletter June 2016 ACTIVATED Newsletter of Haemophilia Foundation Australian Capital Territory PATRON December 2017 Dr Richard Pembrey AM, Newsletter MB BS, MD, FRACP, FRCPA Vol. 33 No. 4 President’s Final Report for 2017 Eventful Year remain on the Committee, and EHLs are around 1.4 to 1.7 times are joined by Committee first- that of regular factor 8 products. It has certainly been an eventful timer, Barrie Cooke. I look The story is even better for year, full of lots of highlights and forward to working with the individuals with factor 9 a couple of sad moments. On a committee to continue to deficiency. Products under trial personal front, I welcomed my advance the interests of HFACT's from a range of companies are fourth child, Matteo Raffaele members and the wider bleeding showing huge increases in half Damiani, into the world. (Ed: See disorders community in the ACT life, for some products greater page 7.) and surrounding regions. than 5 times the half-life of Life just got that little bit busier in today's "regular" factor products. the Damiani household. 2017 Conference This is phenomenal, and could Outcome of AGM There were perhaps two see a factor 9 deficient individual highlights, among many, which on prophylaxis only requiring a HFACT's Annual General Meeting really stood out for me. The first is factor injection every 2-3 weeks, was held on 24th October. From just how rapidly evolving the depending on the individual. your reading of this report you women’s issues around bleeding But there are a range of other would have gathered that I disorders are. I will profess to drugs which are under nominated for, and was being on a steep learning curve development and in trial which accepted, as president of HFACT in this regard and wow, did I are far more exciting, one of for another year. Also joining me learn a lot at conference as I which I've previously written is Jenny Lees, who continues to tried to immerse myself in as about - Emicizumab. The drug is serve as Treasurer, and Rebecca many of the relevant sessions as currently in a stage 3 clinical trial Minty, who is moving from the possible. I think it is something and results to date from the trial Secretary role to the Vice the broader community is appear to be encouraging. President role. The Secretary role grappling with and embracing. Essentially, and to put it simply, it is now filled by Shauna Adams, The second issue is one I'd like to acts by binding the factor 9 and who recently joined the reflect on a little more closely factor 10 together to mimic the committee. Len Minty (my father and it relates to new treatments, missing factor 8. The drug can in law) and Julia Minty (wife) including what's on the horizon, be administered subcutaneously for bleeding disorder sufferers. (that is, it doesn't need to be This topic was the final plenary Contents injected into a vein) and only session of the conference, and I about 1/2 a millilitre per injection President’s Final Report for 2017 .......... 1 was lucky enough to have been is required. Inhibitor issues seem 2017 Conference Reports ................... 2 - 6 invited by HFA to chair this to be eliminated as well. Trials Online Resources............................ 2 session. And believe me, there have found that greater than 50 Gene Therapy .................................. 3 was a lot of information to take per cent of patients on weekly Phillip Bennett ................................. 5 in, because, frankly, there is a lot Stephen Bennett ............................. 5 dosing had zero bleeds over a 40 going on in this space. Counsellor’s Update .................................... 6 week period. I should point out Please Update Your Details ....................... 6 Most, if not all of us, have heard that this drug is in trial and there is Welcome Matteo Damiani ........................ 7 about longer acting factor, also a way to go before it can be 2017 AGM Reports....................................... 7 known as Extended Half Life proven to be effective and safe. Women’s Wisdom ....................................... 8 (EHL). Most would know that Nevertheless, it is very Christmas Greetings .................................... 8 because they have a longer half- encouraging, as are the results Dates for Your Diary .................................... 8 life, those using them need to from some other drugs also under Haemophilia Contacts ................................ 8 inject less frequently than they Our Mission .................................................... 8 would on regular factor (Continued on page 2) ACT Health Acknowledgement ............... 8 treatments. The half-life of these HAEMOPHILIA FOUNDATION AUSTRALIAN CAPITAL TERRITORY ACTIVATED President’s Report (cont.) (Continued from page 1) More information on this is details will be provided in the presented in the article on page next newsletter. When a date for clinical trial which are also very 3. I encourage you to read it. the camp is locked in, members long acting and can be will be notified as soon after as administered subcutaneously. Coming Up In 2018 possible to lock in the dates in Looking forward, we have their calendars. Beyond these exciting commenced planning for a developments, it is fair to say that On a final note and with HFACT camp to be undertaken gene therapy seems to have Christmas and the holiday in April 2018. As per previous entered a new frontier. For years season around the corner I'll take camps, it will be heavily we have heard about gene this opportunity to wish you all a subsidized by HFACT as a means therapy being on the horizon, happy festive season. Hope to of encouraging as many people although year after year after see you in 2018. from the community to attend. hearing the same thing it would The camp will bring together seem as though that horizon was both social and educational Claude Damiani never approaching. But that sessions for the community. More President HFACT may no longer be the case. 2017 Conference Reports Conference Abstracts and ence, Gene Therapy by Professor gate about, send an email to John Rasko AO, which is not [email protected] and we Presentations available online yet. will attempt to put you in touch Thanks to the dedicated and with someone who attended The Bennett brothers have also hard working staff at the HFA n that session. given their personal perspectives Melbourne, many of the slide on attending the conference. presentations from the 2017 con- Ron Lees ference are already available in If there is a particular session that Adobe PDF format on the HFA you would like to talk to a dele- website. See the link below. These resources are very useful if you couldn’t attend the confer- ence. Although its not the same as being there, you can at least benefit from viewing the slides. They are also useful if, like me, you wanted to attend more than one concurrent session. So I look forward to reading about the session on Ageing, as I was at- tending the Improving Care Through MyABDR session in an- other room. Previous post-conference news- letters have contained extensive session reports from our dele- gates. This time we will not do a lot of that, as you can access the online resources yourself. The exception is a summary of the final presentation of the confer- ACT delegates at the 2017 conference Abstracts and Presentations at: www.haemophilia.org.au/conferences Page 2 December 2017 HAEMOPHILIA FOUNDATION AUSTRALIAN CAPITAL TERRITORY ACTIVATED Status of Gene Therapy in Haemophilia Breaking news 7 December 2017 Gene therapy clinical trials cover • The endpoints, or outcomes, many areas of medicine, are well validated and easy to The Spark Therapeutics trial results presented in the session have been although the clear majority are to measure e.g. continuing and released to the media following pub- address cancer diseases (64.6%). i measurable increase in factor levels. lication in New Eng. J. of Medicine. If gene therapy is to be effective, See In the News section at the HFA there must be a method, or As a result, there have been website: www.haemophilia.org.au ‘vector’, by which the therapy is gene therapy trials in delivered into the body. Most haemophilia since 1998. Professor John Rasko AO is Director, vectors are modified viruses Cell and Molecular Therapies at Use of AAV as a Vector Royal Prince Alfred Hospital. He is which carry the gene therapy as also President-Elect, International part of their DNA sequence. An adeno-associated virus, or Society for Cellular Therapy and Other vectors include small DNA AAV, is similar to an adenovirus, a head of the Gene & Stem Cell molecules called plasmids. The common cause of illnesses of the Therapy Program, Centenary four most commonly used vectors respiratory system. However, AAV Institute, Faculty of Medicine at are Adenovirus, Retrovirus, has been found not to cause Sydney University. plasmids and Adeno-associated disease in humans. virus (AAV). i Professor Rasko gave a presentation Viruses consist of several layers. In on the current state of gene therapy the case of AAV, it consists of a in haemophilia, with particular Why Gene Therapy? genome core, in this case a reference to the Spark Therapeutics The goals for gene therapy in single strand of DNA gene therapy trial for haemophilia B. haemophilia are to 1) replace approximately 5 kilobases long (a This is a lay person’s summary of his recurrent lifelong medical presentation, from the slides. base being a nucleotide pair) interventions with a single and an outer protective protein intervention e.g. one injection; 2) Background layer called the ‘capsid’. avoid the risks of blood products, The ideal for gene therapies is a and ; 3) achieve continuous ‘living therapy’, where you are maintenance of clotting factor in given one ‘shot’ and you’re circulation.
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