Category Archives: Rare Diseases

World Eye Hospital Annual Meeting

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I gave a ten-minute talk about the power of the patient’s voice at the World Eye Hospital Annual Meeting on Friday 7th June. This was a good opportunity to tell the BUS story to a wider ‘world’ audience. Below is a tweet which sums up the presentation, with photographs showing me standing at the podium and also next to the BUS display panel with Moorfields Eye Hospital uveitis consultant Narciss Okhravi. It is quite surprising how much we have achieved since we first set BUS up in 2008.

Annie Folkard

Birdshot Day 2018, SESSION 5

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Birdshot Uveitis Society and Fight for Sight have co-funded a number of small grants for birdshot research. Here are video updates from the recipients of five of these projects. They were all asked to make sure that their talk was no longer than 10 minutes, with an additional five minutes for questions. Further project descriptions can be found at the following link. https://birdshot.org.uk/funded-birdshot-uveitis-research-projects/

Colin Chu -‘Investigating Birdshot using human induced pluripotent stem cell modelling’

https://vimeo.com/327024591

Alastair Denniston – ‘Update of the Birdshot database and biobank’

https://vimeo.com/327016934

Omar Mahroo – ‘Update on the RETeval device’

https://vimeo.com/327043191

Philip Murray – ‘Health Utility’

https://vimeo.com/327068379

Graham Wallace – ‘Update on iron overload’

https://vimeo.com/327028545

Mark Westcott – ‘BOSU Study – How many new cases of birdshot each year?’

https://vimeo.com/327039177

Further brief details about the speakers

Colin Chu PhD, FRCOphth, MA, BM, BCh, is a National Institute for Health Research (NIHR) Academic Clinical Lecturer at the University of Bristol and Bristol Eye Hospital, working with Professor Andrew Dick on gene therapy and ocular inflammation (uveitis). During ophthalmology specialist training he was awarded a Medical Research Council (MRC) and Fight for Sight Clinical Research Training Fellowship, gaining his PhD with Professor Robin Ali at UCL Institute of Ophthalmology. He has previously undertaken research at the MRC Laboratory of Molecular Biology in Cambridge, the Weatherall Institute of Molecular Medicine in Oxford and at the Save Sight Institute in Sydney.

Professor Alastair Denniston, MA, MBBChir, MRCP, FRCOphth, PhD, is Consultant Ophthalmologist (Uveitis and Medical Retina) at University Hospitals Birmingham NHS Foundation Trust and Honorary Reader at the University of Birmingham, UK. Alongside Prof Philip Murray, he leads the Birmingham Regional Birdshot Uveitis Clinic which is utilising novel means of imaging to try to improve detection of active disease. He also leads on the development of the National Birdshot Biobank and the Birdshot Registry (database) with Charlotte Radovanovic, Birdshot database project manager. He was awarded an MRC Clinical Research Training Fellowship in 2006, and completed his PhD in Ocular Immunity in 2009. He regularly publishes research papers in scientific journals and is active in research related to birdshot, with a particular emphasis on improving our ability to monitor the activity of birdshot and other forms of uveitis. To further this work, he established the EQUATOR consortium (www.equator.vision) in 2013 with Mr Pearse Keane. Alastair is keen to promote public awareness and patient engagement with ophthalmic research and has been actively involved with the Medical Research Council (MRC) Max Perutz Science Writing Prize and the British Science Festival.

Omar Mahroo MA, MBBChir, PhD, FRCOphth, FHEA, is a consultant ophthalmologist with subspecialty expertise in retinal disease, managing patients at Moorfields Eye Hospital and St Thomas’ Hospital. He completed a medical degree and PhD at the University of Cambridge, and post-doctoral research at Cambridge and the Australian National University. He then commenced clinical house officer jobs in Cambridge, followed by ophthalmology training in London. His main research interest is understanding retinal function through electrophysiology. He has received funding from Fight for Sight, the Birdshot Uveitis Society, National Institute for Health Research (NIHR) and Thomas Pocklington Trust. He was recently awarded a £1.1m Wellcome Trust Clinical Research Career Development Fellowship to investigate disease mechanisms in patients with inherited retinal conditions and also the effects of common genetic variants on retinal function in healthy individuals, including variants related to myopia. His research is based at the UCL Institute of Ophthalmology and at King’s College, London where he is Honorary Senior Lecturer. He has been trialling the use of a quick-to-use hand-held electrophysiology device that could help manage patients in clinic.

Professor Philip I Murray MBBS, DO(RCS), PhD, FRCP, FRCS, FRCOphth, undertook most of his clinical ophthalmology training at Moorfields Eye Hospital, London and his basic science laboratory training at the Institute of Ophthalmology, London and the Department of Ophthalmo- Immunology, Amsterdam. He is Professor of Ophthalmology, Institute of Inflammation and Ageing, University of Birmingham. His laboratory research is focussed on understanding:
• why intraocular tolerance fails in uveitis
• what immune mechanisms initiate and drive the inflammatory response
• what can one do about it?

He is Honorary Consultant Ophthalmologist at the Birmingham and Midland Eye Centre (BMEC), Sandwell and West Birmingham Hospitals NHS Trust and runs two dedicated regional and supra-regional uveitis clinics per week. He enjoys the challenging and frustrating nature of uveitis but also finds it immensely rewarding. He is involved in clinical trials on novel therapies for uveitis and until recently he had a special interest in cataract surgery on the uveitic eye. He is part of the Birmingham National Centre of Excellence for Behçet’s syndrome. From 2004-2016 he was Secretary of the International Uveitis Study Group. He sits on numerous national committees, is section editor for three journals, an examiner for the Royal College of Ophthalmologists (RCOphth), external examiner for the Royal College of Surgeons of Ireland and past external examiner, Optometry BSc (Hons), Aston University.

Graham Wallace, BSc, PhD, is a Senior Lecturer in the School of Immunity and Infection, Birmingham University. He has published over 75 research papers in scientific journals as well as reviews in the fields of ocular immunology, Behҫet’s syndrome and immunogenetics. He has received grants from Guide Dogs for the Blind Association, Fight for Sight, and the Wellcome Trust. He is an enthusiastic communicator on the theme of immune responses in the eye and the effects of gene polymorphisms on ocular diseases. Graham is on the medical panel of the Behҫet’s Syndrome Society and speaks at meetings of patient groups on a regular basis.

Mark Westcott MD, FRCOphth, CCST, is a Consultant Ophthalmologist at Moorfields Eye Hospital, London, where he specialises in uveitis, and also at St Bartholomew’s and The Royal London Hospitals. After residency training in London he spent a Fellowship year in glaucoma at the UCLA Stein Eye Institute, Los Angeles. Thereafter he returned to Moorfields Eye Hospital to undertake a Specialist Fellowship in medical retina and inflammatory eye disease.

Mark has co-authored over 40 scientific papers and regularly lectures both nationally and internationally. He is an honorary Senior Lecturer at the Institute of Ophthalmology, UCL. His research interests include infectious uveitis, birdshot disease and visual dysfunction in glaucoma.

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Individual funding request – a call for help!

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Have you and your consultant tried and failed to get access to a much-needed birdshot uveitis treatment, such as the biologic treatments adalimumab or infliximab?

If so, this is a call for help directed to English and Welsh birdshotters who have tried unsuccessfully to gain approval to use these specialised treatments through Individual Funding Requests (IFRs). Currently, IFRs are the only way that we can hope to receive these treatments. We believe that the present situation is that nearly all IFRs are being turned down.

NHS England is currently consulting on four of its ‘generic’ policies. These are policies to commission treatments outside the normal annual commissioning cycle. We need to influence this process.

Genetic Alliance UK wants to submit a response to the NHS consultation that truly represents the experiences of the rare and genetic disease community.

Please tell us about your funding experiences via the following link that takes you to Genetic Alliance UK’s short survey:

https://www.surveymonkey.co.uk/r/IFRcallforevidence

Thank you.

 

 

Update on Humira and Ozurdex

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HUMIRA NOW LICENSED FOR POSTERIOR UVEITIS

BUS learned this week that AbbVie, the manufacturer of Humira (adalimumab), has received approval from the European Medicines Agency for an extension of its marketing authorisation for Humira to treat certain forms of non-infectious uveitis. This means that in Europe, including the UK, and also in the US, “Humira is indicated for the treatment of non-infectious intermediate, posterior and panuveitis in adult patients who have had an inadequate response to corticosteroids, in patients in need of corticosteroid-sparing, or in whom corticosteroid treatment is inappropriate.”

AbbVie’s press release is attached here.

The updated ‘Summary of Product Characteristics’ (SPC) – the official product data sheet for Humira – can be found here: https://www.medicines.org.uk/emc/medicine/31860

The patient information leaflet for the Humira pen can be found here: PIL Humira July 2016

NICE MULTIPLE TECHNOLOGY APPRAISAL

BUS has also been invited to participate in the NICE Multiple Technology Appraisal which is looking at Ozurdex (dexamethasone) intravitreal implant and Humira (adalimumab) injection with a view to getting NHS funding approved for them to be prescribed for non-infectious posterior uveitis. We are currently preparing our ‘patient organisation statement’ to submit to NICE in August.  We have also nominated a number of ‘patient experts’ and a ‘consultant expert’ and we hope that one or two of them may be invited to put the patient’s viewpoint across at the Appraisal Meeting in February 2017.

We would like to thank those members who took part in our short survey last year about Humira and Ozurdex.  The anonymised information from these questionnaires has been very helpful in preparing BUS’s ‘organisation statement’.

Watch this space as this story unfolds.

POSSIBLE FORTHCOMING HUMIRA TRIAL

BUS is also trying to help get a trial under way to provide the practical evidence that Humira (adalimumab) can work for certain hard-to-treat cases of Birdshot as well as for other complicated, rare forms of autoimmune posterior uveitis.   Our team of experts led by Professor Andrew Dick, Ms Srilakshmi Sharma and Mr Alastair Denniston hope to put in an application in September to the National Institute for Health Research (NIHR) for possible funding, and we will know if we are successful by early next year.  We are all aware we need to provide as strong evidence as possible and in particular to show which groups of patients are best treated or will best benefit from treatment in order to convince NICE and commissioners to support use of expensive treatments for other conditions. The Birdshot team is going to give this its best shot, and we will keep you posted.

New Birdshot journal article published

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BUS is delighted to announce that a new article which we have been helping to write, along with other much better-known and qualified researchers, has been published in Orphanet Journal of Rare Diseases: “Birdshot chorioretinopathy: current knowledge and new concepts in pathophysiology, diagnosis, monitoring and treatment.”  It is long and quite detailed, but for those who want to know the detail, we think this is really informative and certainly up-to-date.  (May 2016)

Evangelos Minos, Robert J. Barry, Sue Southworth, Annie Folkard, Philip I. Murray, Jay S. Duker, Pearse A. Keane and Alastair K. Denniston. May 2016  http://ojrd.biomedcentral.com/art…/10.1186/s13023-016-0429-8

Orphanet is the European portal for rare diseases: http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0429-8

 

Have you struggled to get Humira treatment?

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We recently heard from Genetic Alliance who are keen to learn about people who have struggled to get humira to treat their uveitis.  Here is an extract from their recent email to us:-

Genetic Alliance UK has been looking at access to medicine for rare disease patients. NHS England has provided us with a list of medicines requested through IFRs over the past year. One of these, Adalimumab (Humira), I believe could have been for patients with Uveitis.

I was wondering whether you have any information or case studies of your members struggling to access this medicine, and whether you would be willing to share it with us?

We are planning to do some policy work around this issue, so would be grateful for any assistance you can provide.

If you live in the UK and are able to help with this please do get in touch with BUS at info@birdshot.org.uk.

Many thanks

Urgent your help is needed – Specialist Commissioning Debate

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MPs are debating Specialist Commission this Thursday 15th January.  Please write to your MPs enlisting their support and ensuring that they attend this debate.

This is relevant to you because in the future Birdshot will come under specialised Commisioning  and we need to make sure we get good services. At the moment, the government is trying to squeeze funding away from specialised commissioning and you may already be aware that they are planning not to fund anti TNFs  (drugs like Humira and Infliximab) for people like us.

Below is a draft of a letter that you can alter as you wish to send to your MP.

Specialist commissioning letter draft

and a briefing paper which you might also like to send.

SHCA Briefing Materials for Westminster Hall debate on national commissioning of NHS specialised services – Jan 2015 specialist commissioning letter

What Is Your Experience of Having Birdshot?

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A major survey is being undertaken across the UK and US into the experiences of people like us with Rare Diseases.  The findings of the research will guide future research and education, so if you can spare 10 minutes to complete the survey, please click on the link below or copy and paste it – once on the site, you will see the link for the survey: Continue reading →

US Film Explores struggle of rare diseases

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Two US filmmakers have produced a documentary on Hermansky-Pudlak syndrome (HPS), a rare disease.  This film highlights the issues faced by all of us with rare diseases.

Like Birdshot, very few doctors have heard of HPS, and no-one knows how many people have it.  Getting diagnosed is difficult, and finding some-one else with the syndrome is difficult, so it is a lonely path people tread.  They also point out that there are no disease specific medications (just like for Birdshot). We Birdshotters at least have an organisation (BUS) that lets us connect with other Birdshotters!

The film points out that whilst each rare disease is uncommon, if you take all rare diseases together, they are very common.  It also explores the way that patients, once diagnosed, connect with others.  They highlight a similar development to BUS for each of the rare diseases, and how the internet has helped in this.

The most interesting part of this film follows a parent of a patient with HPS as she tries to find other patients to participate in a clinical trial to test a new drug.

It is a really moving film.  To see the full article go to:

http://www.sfgate.com/health/article/Film-explores-struggles-with-rare-diseases-3924112.php

Government Rare Disease Plan – Consultation

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Birdshot is a rare disease.  Because of this, it can sometimes be difficult to get the right diagnosis and treatment.

The Government will be implementing a Rare Disease Plan by 2013.  This plan SHOULD help all of us, with rare diseases get better services.  But will it?  The plan is now being consulted on, and the closing date for comments is 25th May.

This is our opportunity to give our opinions, and make sure the rare disease plan meets our needs.

You will remember that BUS has worked with Rare Disease UK  (the national alliance for people with rare diseases and all who support them) to help advise the government on what people with rare diseases need.  Some of our recommendations have been incorporated, but we are worried that this plan will not fully meet the needs of those of us with Birdshot and other rare diseases.

Individual patients can respond to the consultation, as can patient organisations and healthcare professionals.  If you are an individual patient, or a healthcare professional, please take the time to have a look at the rare disease plan, and see if you think it will work for you.  The plan can be found at:

http://www.dh.gov.uk/en/Publicationsandstatistics/Publications/PublicationsPolicyAndGuidance/DH_132880

If you want to understand why the proposed rare disease plan might not meet needs, Rare Disease UK have produced a very good presentation that you can listen to at:

http://www.anymeeting.com/RDWebinarEngland/EA56D880804C

If you have any concerns at all, following listening to the above presentation, please do submit your comments to the Department of Health.  If you need help in designing your comments, Rare Disease UK has provided help – just click on the link below.

advice document

Alternatively, you can submit your comments to Rea at info@birdshot.org.uk and she will collate and present them

Many thanks everybody – if we work together, we might be able to get an NHS system that meets our needs!