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Better options for treating Birdshot

New research funding partnership between Fight for Sight and Birdshot Uveitis Society

Birdshot uveitis is a rare autoimmune disorder that has the potential to blind. It’s notoriously hard to treat. The UK’s main eye research charity Fight for Sight is partnering with Birdshot Uveitis Society to try to change that with new grants to researchers in London and Birmingham, to fund pioneering research that could lead to better treatments.

In birdshot, which is strongly linked to the gene HLA-A29, the immune system attacks two critical structures at the back of the eye: the retina and the choroid. The retina contains the photoreceptor cells that detect light and send visual signals to the brain, while the choroid is a layer of blood vessels that supplies the retina with oxygen and nutrition. When this supply is interrupted as during an inflammatory immune response, the photoreceptors can’t function normally.

Current options for treatment are limited to steroids and drugs to suppress the immune system. However in the long term these can cause sight-threatening complications such as cataract and glaucoma. We need some better options.

Stem cells from patients

Dr Anai Gonzalez Cordero at UCL Institute of Ophthalmology is leading one of the two new studies. The team will study a layer of cells in the retina called the retinal pigment epithelium (RPE) in tissue developed from birdshot patient stem cells.

“Subtle changes to RPE can be seen in some patients during the early stages of birdshot. This is not an obvious feature of the condition but current examination methods are limited, identifying only severe dysfunction,” says Dr Gonzalez Cordero.

“We do know that RPE can modulate the choroid and that RPE cells show HLA-A29 gene activity. Almost everyone with birdshot has a particular variation of this gene. Post-mortem tissue from birdshot patients is both scarce and unsuitable for detailed analysis. However we can develop mature RPE in the lab from stem cells derived from blood of living patients. This will allow us to explore the role of RPE in detail as well as providing a much-needed test bed for future treatments that can also be used by other researchers in the field.”

Iron overload is treatable

Dr Graham Wallace at the University of Birmingham will lead the second study. Here the focus is on genetic control of iron levels in birdshot.

“Iron is essential in the retina for photoreceptor cell function and is generally controlled by iron-regulating proteins. However free iron is highly toxic for photoreceptors, leading to an increase in oxidative stress. Iron is also involved in inflammation as it is essential for the proliferation of immune cells,” says Dr Wallace.

“Given a recent association between HLA-A29 and HFE H63D – a gene implicated in patients with iron overload – we think this could be an important route to explore with regard to birdshot. Iron overload is treatable and so may give us other options.”

Dr Dolores Conroy is Fight for Sight’s Director of Research. She says: “Understanding the root causes of birdshot is ultimately what will lead us to targeted, effective treatments. The Sight Loss and Vision Priority Setting Partnership tells us that this is what’s important to patients and so we are delighted to partner with Birdshot Uveitis Society to see the priorities addressed.”

Annie Folkard, a founder of the Birdshot Uveitis Society, said: “We are excited to support this innovative research. Studies likes these give our members great hope that in the future, improvements will be made to the current toxic treatments. Maybe even a cure will be found.”

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Local Birdshot Meetings 2016/17

London Social Event with speaker

Speaker: Victoria Makepeace

Venue: The Phoenician, Thames Barge, St Katharine’s Dock London E1W 1LA

On  Saturday 13th August 2016

from  12.00 – 16.00

Manchester Social Event with speakers

Speakers:  To be confirmed

Please see the following link for further details: https://birdshot.org.uk/north-west-meet-up-new-arrangements/

Henshaws, Atherton House, 88-92 Talbot Road, Old Trafford, Manchester, M16 0GS

Date Saturday 22nd April 2017

from 11.00 – 15.00

Please do let Annie know if you are thinking of attending either or both of these events so that we can gauge numbers.   email:  info@birdshot.org.uk

 

 

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North West meet-up: new arrangements

Due to various circumstances, we decided that it would be sensible to postpone our North West meet-up (planned for September) until April next year. We apologise for this change of plan. The proposed date is now Saturday 22nd April, and provisionally we will be holding it at Henshaws in central Manchester, as this provides a convenient location with transport links.  The time will be from 11.00am – 3.00pm.

The meeting is kindly being organized by BUS members Barrie Standish and Nick Bucknell, who are both active members of the Society.

As well as being a social event with lots of opportunity for chat and something to eat, we plan to have a couple of talks, and if possible to run a data and blood collection session for the Birdshot Database and Biobank. We are currently trying to work out the logistics of this to see if this will be possible. If it is, this would enable members from the North West and North East of England to contribute samples and information for future scientific research into Birdshot. Initially, the main centres for sample collection will be in Bristol, London and Birmingham and Manchester,  but we don’t yet have arrangements with other hospitals in the north such as Leeds, Liverpool, Newcastle Sheffield and Yorkshire.

If you are interested in attending, please put the date in your diary and email info@birdshot.org.uk to allow us to put your name down as someone who is interested in coming along so that we can gauge numbers and make sure the venue is big enough!

 

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Update on Humira and Ozurdex

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.

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GPOUS STUDY

Research Study: Genetic polymorphism and outcome in uveoretinitis syndromes (also known for short as GPOUS Study)

This is just a heads up that over the next few months, people with Birdshot Uveitis attending Moorfields and other eye clinics may be asked if they would like to take part in the above study. The aim is to get another 100 people with Birdshot from the Moorfields cohort to join in. On the particular day in June when I was asked, there was at least one other Birdshotter that I know who also took part.

The researchers are looking at a number of different eye conditions, but if they have a largish cohort of Birdshot Uveitis patients, they may well get some useful pointers as to why some cases of Birdshot are more severe than others, and why some are easier to treat. The information may well be useful in helping to determine less toxic treatment strategies.

There are a number of other participating eye hospital sites, including St Thomas’ (London), Birmingham, Bristol, Brighton and Manchester.

It is encouraging that we are managing to utilize the National Birdshot Research Network to get the various different hospitals to work together so that there are sufficient patients that can be studied in a meaningful way.

After I had donated my ’two tablespoonfuls’ of blood, I subsequently had the opportunity to quiz Professor Miles Stanford. I asked him if it would be possible for the information about Birdshotters’ DNA and blood samples to be fed into the Birdshot Database.

The answer, unfortunately, was no, but he indicated that ethical approval had been granted so that the anonymised DNA samples could be retained and used by other researchers to look at other genetic risk factors.

Here is some background information taken from the patient information sheet that the researchers gave me to read, so if a researcher approaches you when you are in the eye clinic and asks you if you are interested in participating, you have a little more information in advance.

Background and Purpose:

Uveoretinitis syndromes are a group of diseases that affect the eye and cause inflammation within it. In approximately half of the cases, the inflammation appears to be confined to the eye, and in the other half it appears in association with inflammation elsewhere in the body, commonly arthritis. It is not a very common disease and if the inflammation gets severe it may threaten vision permanently. In these cases it is necessary to treat patients with drugs which, whilst usually effective, often have unpleasant side effects or require regular hospital visits for monitoring.

We do not know why patients develop these diseases or what causes one patient to have a mild form and another to have a more severe form. Our research over the last ten years has suggested that the outlook for vision is determined in part by the genetic make up of the patient, particularly in a group of genes that control the production of molecules that either make the inflammation worse or others that make it better. It is now possible to target these molecules with specific drugs, so the ability to know whether an individual’s disease is driven by an excess of molecules that cause inflammation or by a lack of molecules that make it better is becoming very relevant for treatment.

The aim of the current research study is to relate the different genes that a patient has to the outcome of their disease at 5 and 10 years. By using various combinations of the genes we hope to produce a test that can predict the outcome of the disease in 5 and 10 years time. If we can do this then we will be able to reassure patients with a good outlook and devise more appropriate treatments for those where the outlook is less good.

 What will happen to me if I take part?

If you do decide to take part, your examination is exactly the same as would happen when you are seen in the eye clinic. After your routine eye examination, we will then ask you to sign a consent form to show you have agreed to take part and we will then take a small blood sample (2 tablespoonfuls) from you for our research study. These samples will then be available to researchers who are investigating the genes and markers that may influence the sort of eye disease that you have and its severity. We will also require your medical history from your GP or hospital records and we will continue to monitor your disease’s progress over 10 years. We will let your GP know that you have agreed to take part in the study

What are the side-effects and possible disadvantages of taking part?

If you take part in the study you will spend longer in the clinic than if you do not, as the doctors will be spending time explaining the study to you and taking the blood sample. There are no other disadvantages to taking part in the study.

What will happen to the blood sample?

The blood sample will be processed in the laboratory to extract the genetic material (DNA) from the cells. This DNA can then by analysed to look for genes that we think may have an effect on the risk of developing uveoretinitis. Your sample will then be frozen in a locked freezer in a secure laboratory.

What will happen to the results of the study?

Any results that emerge from the study will be published in scientific and medical journals. The results from the study will be anonymous and the identity of individuals taking part will not be declared. It will not be possible for you to learn of the results of tests on your blood sample in this study.

 Who is funding the research?

The research is being funded by a grant from the Guide Dogs for the Blind Association and the research will be carried out jointly between St Thomas’ Hospital and the University of Birmingham. Future studies on the blood samples from this collection will be undertaken by various other groups and funded separately. The future use of your sample in other studies will only be allowed if ethical approval for individual projects had been obtained first.

How long will the research last?

The aim is to record how your eye disease progresses over a 5 year period to determine the eventual outcome. We already know from previous studies that the vision at this time predicts the outcome at 10 and, in some cases, 15 years. It is intended that the large number of blood samples generated from this collection will be available for many years afterwards to doctors and scientists as more genes that might cause or influence the severity of uveoretinitis are discovered. However, the identity of the people providing the blood samples would remain unknown to them.

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4th Birdshot Clay Pigeon Shoot

For the fourth time in as many years, the beautiful Royal Berkshire Shooting School was the venue for John Hall’s Birdshot Uveitis Charity Clay Shoot day, sponsored by John F Hunt. The weather was not very early June-like, but it did not prevent the 28 teams of four having tremendous fun on the 10 stands provided. Top team, winning engraved whiskey tumblers, were the Greenshield JCB’s ‘Marksmen’ team: James Pengilley, Paul Poulter, Andy Skilton and Alex Cobb, with a superb score of 437, some way ahead of their rivals. Top gun was Paragon’s Richard Estrop of the creatively named ‘Paragon Pigeon Punishers’ team, while Carol Limehouse carried away the prize for Top Lady.

Before the auction, Miles Stanford, Professor of Clinical Ophthalmology at Guy’s and St Thomas’ NHS Foundation Trust, gave a brief talk about the current research being done on Birdshot Uveitis, a rare and potentially blinding eye condition. Lord Archer did the honours as auctioneer, as usual managing to extract money from people but leaving them with large grins on their faces.

The day raised approximately £50,000 for the Birdshot Uveitis Society (BUS). John Hall and all those at BUS would like to say a huge and heartfelt thank you to everyone who contributed to this enjoyable and successful day.

Below is a link to a slide show which gives a flavour for the day.  Photographs courtesy of Chris Warren  www.photoshoot.uk.com and www.chriswarrenphotography.com

 

 

 

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New Birdshot journal article published

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

 

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Navigating the City workshop

BUS has been contacted by Jo Morrison who is working with University College London’s ‘Gene and Cell Therapy Group’ and Moorfield’s Eye Hospital to run a one-day creative workshop, ‘Navigating the City’, at Moorfields on 19 March 2016. The workshop aims to bring together a community of research scientists from UCL with people experiencing sight loss, in order to better understand the ways in which those with visual impairment navigate the city. The outputs from the day will help to inform further research into sight loss.

This workshop is aimed primarily at participants whose vision is impaired by inherited conditions such as Leber’s Hereditary Optic Neuropathy, Stargardt’s Disease, Retinitis Pigmentosa and Chromatopsia, but they have also extended the invitation to people who suffer from Birdshot. It will be a friendly, informal and collaborative activity. Attached is the leaflet that they sent me. Please get in touch with me at info@birdshot.org.uk  or contact Andi Skilton directly (his details are in the below link) if you are interested in going.

Further details here: Navigating the City

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Birdshot Voices

Dr Tracy Craggs has been listening to people talk about sensitive issues for the past 20 years, including asking Holocaust survivors and members of the armed forces to share their experiences. Her interviews have been used for a variety of educational purposes. She was delighted to be asked to attend our recent Birdshot Day No 3 and listen to some of our attendees talk about their lives since diagnosis.

Birdshot graphic designer David Bethell, has been doing the editing and putting them into a presentable format. David will be adding more when they are ready. It’s very enlightening to listen to each individuals story.  http://www.yungcloud.com/index.php…

The interviews are with:-

  • 5 members of BUS, living with birdshot
  • 1 partner of someone with birdshot
  • Health professionals, treating the condition
  • Exhibitors at the Birdshot Day
  • and Friends of BUS

There are further interviews from our first Birdshot day held in September 2010  which might also be of interest.   https://audioboom.com/users/67238/boos

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Birdshot T Shirts, Hats, Badges and Bags for sale!

Because of popular demand, the Birdshot Uveitis Society is pleased to be offering the following unique Birdshot promotional items for sale.  Any profit made will be used to support the work of the Birdshot Uveitis Society.

T Shirt

Good quality cotton, available in small, medium, large, X large and XX large.  £10.00 plus postage and packing. Please click on the tab below to select the size you want to purchase, then add to cart. T shirt modelled by BUS member, Joanne at the Birdshot Day No 3.
Birdshot Day 3 Nov 15 052


Size



Black Peaked Cap

These are printed with Birdshot logo in reverse.  They are available in one size,  £5.00 plus postage and packing.  (Hat, modelled below by BUS member,  Robert.)

11221824_10153095734236331_2588353459153584896_n(1) (1)




Cotton Shopping Bag

One size bag measuring 14″ x 16″ with long handles – ideal to have handy for impulse shopping.  £3.00,  plus postage and packing. (Some may remember these bags as we used them at the 2nd Birdshot Day.)
Cotton Shopping bag




Small metal badges Size: 1.5″

£1.00 each, with no additional postage charge.
BUS Badge




 POSTAGE for UK and Europe

There is an additional charge for postage and packing depending on the value of items ordered.

£2.00 for  items up to £10.00 in value

£4.00 for items up to £25.00 in value

£6.00 for items up to £50.00 in value

Over £50.00 in value, please contact us for an accurate postage estimate.

For members in USA or Canada or Australia, it is necessary to add a postage premium to help cover costs.

Please select the number of items you have ordered in order to calculate the extra premium required for shipping goods.  If you are ordering more than three items, please contact BUS to obtain a quotation for an accurate postage cost.


Number of items ordered



Any queries, please contact Annie at info@birdshot.org.uk