Sirolimus eye injections given orphan drug status

Sirolimus has been given orphan drug status, which suggests that the studies carried out at various institutions have shown positive results. It is still being trialled as  part of a phase 3 study (see attached link.)

This drug given as an invitreal injection, was discussed at the Birdshot Day 2012. We were told that the risk of developing glaucoma and cataracts as an adverse effect of sirolimus may be lower than the risk associated with steroid treatment.

We await more information, but it is possible sirolimus might be a useful alternative treatment for people with Birdshot, especially for those who fail to achieve remission on the Cellcept (mycophenolate mofetil)/ cyclosporin formula.

Carrots Walk – raising money for Birdshot research

BUS is hoping that as many as 50 walkers will sign up and join the Birdshot Uveitis Society Team for the Carrots Nightwalk  which takes place on Friday 21st September 2012 in London.

Click here if you want to sign up as a walker  for the Carrots Nightwalk and raise money for the Birdshot Biobank.   When you are completing the form, please remember to select Birdshot Biobank in the ‘what you want your money used for section’!  Please also let us know that you have registered to support Birdshot Biobank so your Just Giving fundraising page (which you need to set up) can be linked  to our Team Birdshot page . Don’t forget to invite fit friends and family to  join us on the walk to help us achieve our fundraising target.

If you can’t walk but want to support the Birdshot Biobank initiative by making a donation, please go to our Just Giving  Birdshot Team Page where you can make a donation to support all of our fabulous carrots walkers

We have set a target of £12,000 for the team but it would be great if we are able to exceed this.

Read on for further details about the Biobank and the walk.

We are really excited to be working in partnership with Fight For Sight to raise funds for the Birdshot Biobank and research by participating in the Carrots walk – a 15 mile night walk through London, taking place on 21 September 2012 and we really need your help, either by becoming a walker and raising funds, or by donating to our growing ‘Team Birdshot’ of walkers.

The Birdshot biobank is a really exciting development, which will allow us to hold samples of everybody affected by this disease, and allow us to research why we get it, who gets it,  how we can stop it into the future, and how we can find more targeted and less toxic medication to stop us needlessly losing our sight.

We have already had a grant of £15,000 promised us from Fight for Sight who are very keen to help with this initiative, but this is dependent on us finding additional money from elsewhere.  We are looking to find some sponsorship but we need our members help as well to show that this is something which we support.

If you want further information on Fight For Sight, please go to their website at http://www.fightforsight.org.uk

Please see below for further information on the Carrots Walk:

The route:

Carrots NightWalk – See London in the Dark 2012 will take to the streets of London with the aim of raising funds for vital eye research. In 2012 there will be two walks of different distances. The 15 mile NightWalk is available to anyone of 13 years and above. The 6 mile NightWalk is available for all ages.  More information on the routes

Registration fee:

A registration fee of £25 is required to register and we ask you to pledge to raise a minimum sponsorship of £150. There is no registration fee for children under 13 years taking part in the 6 mile walk.

Where your money goes:

By supporting the Carrots NightWalk, every one of our walkers will help to bring us closer to preventing sight loss and treating Birdshot uveitis. This will help to improve the lives of  us Birdshotters and our family members.

Please join us in this great fundraising opportunity which will be great fun.  We can benefit from the larger infrastructure of  Fight for Sight and still really make an impact and obtain publicity, helping to raise the profile of Birdshot Uveitis.

Please do let us know if you need any help setting up your Just Giving fundraising page, by contacting BUS by email.  We can talk you through this process on the phone if required.

 

Annie and Rea

 

 

Birdshot Day Super Draw!!

This year we are delighted to tell you about our Birdshot Day Super-Draw.

We have some amazing prizes up for grabs with all the proceeds going towards raising funds for the Birdshot Bio Bank.

Some of the prizes include…….

  • Membership for a Day for two at Guards Polo Club with lunch and drinks in the Club House

  • £150 EyeCare Voucher for Specsavers

  • A case of Pink Champagne

  • £100 Voucher for Frame Set and Match

  • A Carluccio’s Hamper

  • A fabulous  quilted patchwork king- sized bedspread made by BUS member Liz McKinnon

………And Many, Many More!!!!!

Tickets will be £5 on the day.

Remember to tell your friends and families to place their  orders with you

Birdshot Day sponsorship and help

BUS would really like to thank the following organisations and companies  for their financial support and help with the Birdshot Day.

Allergan,   Friends of Moorfields, Grange Hotels, John F Hunt, Moorfields Eye Charity, OPTOS, Scope Ophthalmics, SIGMA TAU,  Moorfields Eye Hospital, the National Institute for Health Research and UCL.

Without such generous assistance the day would never have been possible.

Thank you

Annie and Rea

Birdshot Day programme, how to get there & useful info.

Dear Birdshot Friends

If you haven’t registered yet for the Birdshot Day and you want to come,  please do so now.  We are supposed to finalise numbers this week and we don’t want you to be disappointed.

For your information we will be sending the following information to you by email later in the week, and by post for those who don’t use email.

But here is a preview of what we are going to send.

BUS is really looking forward to the event and hope that it will be an enjoyable and informative occasion.

This event will be held in the Wren Suite at the Grange St Paul’s Hotel, 10 Godliman Street London EC4V 5AJ.   The Wren Suite is situated on -2 (minus 2) floor which you reach via the lift.  BUS helpers will be in the main hotel foyer wearing BUS T-shirts to direct you to the conference.

On separate sheets we attach a map and details of how to get to the hotel and also a copy of our programme together with a list of exhibitors and sponsors. (The programme and list of exhibitors could still change.)

Registration for the Birdshot Day will start at 9.30 am and the conference will be opened by Mike Brace CBE at 10.30.

We recommend that you arrive in good time because we have planned a busy day for you which we really hope you will enjoy as well as find useful.

We plan to do a bit of fund-raising on the day so that we can start raising money for the Birdshot Biobank research which we need to get started.  For example there will be a raffle with a number of very attractive prizes.  A separate letter will be sent to you giving you further details.

On arrival you will be asked to fill in a pre-event questionnaire.  So that it is easier for you to complete, you might like to give some thought in advance about how you might answer some of the questions.  For example, why you have come to the Birdshot Day, what you think research for Birdshot should focus on, what you think is the worst thing about Birdshot.

We are going to be filming the conference and a DVD will be produced for training purposes. The filming and web streaming are unlikely to include you, as they will focus on the speakers, however, there is always the chance that you might be included in one of the shots.  We require your permission to include you in the film so, at registration, you will be asked to complete a consent form. If you do not wish to be filmed, please let us know at birdshot@live.co.uk and also when you register, so we can make appropriate arrangements.

Please do let us know if there is anything else you may need in order to attend this day.

We have been very lucky to receive sponsorship from a variety of organisations, which means we are able to hire the venue, provide refreshments and lunch for free.

All of the speakers – patients and professionals, have given their time at no charge.

Please bring with you a pen so you can fill in the paperwork.  Please also bring in a USB storage stick if you want to take away images of your eyes that you can have taken with the unique OPTOS scanners.   This takes no more than 5 minutes and gives a complete scan of your eye, without having to have your eyes dilated!  Rea and I had our eyes scanned at the Euro Retina conference and were most impressed.  We were even more delighted when OPTOS accepted our invitation to join our event on 3rd March and gave us very generous sponsorship as well.

Please email us, should you need any further information at birdshot@live.co.uk.

We do look forward to seeing you all.

 

ANNIE AND REA

 

 

 

 

“My Vision” by Susan Piper – Exhibition at the Birdshot day

We are delighted  to confirm that there is going to be a small exhibition of some recent paintings by one of our Birdshot members at the forthcoming Birdshot day.  This will run alongside the mini art workshop that Jenny Wright will once again be organising for us.  We hope that these initiatives will  add to the diversity and enjoyment of the day.

Here is a little bit about painter Susan Piper and her work to wet your curiosity.

Susan has been painting with passion since 2000 when, having moved to a new home and not knowing many people, she took her Foundation in Art and Design at Alton College in Hampshire – it was the only course she could find that did not have exams at the end of it!  Her distinction gave her the confidence to design and market her own hand-made greetings cards which in turn led to many commissions.

In 2009, Susan was diagnosed with Birdshot (a family tradition as her brother, her father and her father’s cousin had been previously diagnosed with the condition)** which introduced her to the breathtaking, sometimes chilling, retinal photographs and the elegance of OCT images. Finally, after three years, a series of paintings has resulted. Collectively called ‘My Vision’ the series draws to a varying degree on the technical images and symptoms of Birdshot but Susan has also tried to reflect emotional responses to a disease that frustrates even when trying to explain what it is!

A question that niggles for Susan is how much her earlier work was shaped and influenced by undetected Birdshot. More than one artist when questioned on influences has said, “I paint what I see.” In these paintings, Susan has tried to capture what she is trying to see!

Further information about other work can be found at www.shortheathstudios.co.uk.

**  Birdshot Chorioretinopathy running in families is very unusual.  BUS  only  knows of five families where it is known that more than one family member has the condition.  If there are families where more than one person has Birdshot who we don’t know about already,  we’d be very grateful if you could let us know.  Thank you!

 

 

 

Vitamin D Research

Recent research into Vitamin D  reported in Food Consumer, the Daily Mail, and the Daily Express, amongst many, shows a potentially interesting relationship between Vitamin D levels  and eye health.  The research funded by the Biotechnology and Biological Sciences Research Council (BBSRC) have found that vitamin D reduces the effects of ageing in mouse eyes and improves the vision of older mice significantly.

The research was carried out by a team from the Institute of Ophthalmology at University College London and is published in the current issue of the journal Neurobiology of Ageing.

Professor Glen Jeffery, who led the work, explains “In the back of the eyes of mammals, like mice and humans, is a layer of tissue called the retina. Cells in the retina detect light as it comes into the eyes and then send messages to the brain, which is how we see. This is a demanding job, and the retina actually requires proportionally more energy than any other tissue in the body, so it has to have a good supply of blood. However, with ageing the high energy demand produces debris and there is progressive inflammation even in normal animals. In humans this can result in a decline of up to 30% in the numbers of light receptive cells in the eye by the time we are 70 and so lead to poorer vision.”

The researchers found that when old mice were given vitamin D for just six weeks, inflammation was reduced, the debris partially removed, and tests showed that their vision was improved.

Professor Jeffery said “Researchers need to run full clinical trials in humans before we can say confidently that older people should start taking vitamin D supplements, but there is growing evidence that many of us in the Western world are deficient in vitamin D and this could be having significant health implications.”

Birdshot Uveitis Society is very interested to find out more about this piece of research, particularly as one or two of our members have told us that they believe that vitamin D may have helped their eye problems.    We are contacting the researchers to  find out more about this.

Four important points to note:

  • At this stage there is only scientific evidence that the eye sight of the mouse improves.  There have yet to be trials on humans.
  • Too much Vitamin D can be harmful, so it needs to be monitored.
  • We would never advocate that members add in extra supplements without first discussing  with the specialists who treat them.
  • Seemingly harmless supplements can put extra strain on your liver and kidneys or interact with your other medications

Update about rare diseases from Orphanet

BUS is a member of Orphanet. Orphanet is the European reference portal for information on rare diseases and orphan drugs, for all audiences. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases.

As you know, Birdshot is a rare disease and sometimes, this makes it difficult to get the appropriate medication as it is not licensed for our disease. BUS is working with Rare Disease UK to try and get a ‘rare disease’ strategy implemented in the UK by 2013. With this in mind, BUS and Rare Disease UK met with Dr Edmund Jessop, who is the medical advisor to the part of the health service that looks after rare diseases and he is also the UK representative to the new European Committee of Experts on Rare Diseases (EUCERD). All these organisations are working hard to make sure that any rare disease strategy really addresses the needs of us as patients. The meeting with Dr Jessop was really productive, and he was impressed with the way that BUS, in partnership with the NHS, is tackling the issue of research and less toxic medication regimes.

You might be interested in reading the report from Orphanet – it is another step towards us (people with rare diseases) getting a better deal from the NHS!

http://www.orpha.net/actor/EuropaNews/2011/111221.html#23860

“2011 was a satisfyingly busy year for the rare disease and orphan drug community which saw several major initiatives move forward efforts to understand, diagnose and treat rare diseases. Members of the European Union Committee of Experts on Rare Diseases (EUCERD) were grateful to play a pivotal role in several key areas, including participation in the International Rare Disease Research Consortium (IRDiRC), a recently-formed initiative that brings together international regulatory agency stakeholders, researchers, patient group representatives, members of the biopharmaceutical industry, and health professionals to harmonise, coordinate and accelerate research.

The EUCERD contributed several key documents this year, including the Recommendations on Quality Criteria for Centres of Expertise for Rare Diseases in Member States which guides European Union (EU) Member States (MS) in the development of centres of expertise, and the sweeping three-part 2011 Report on the State of the Art of Rare Diseases Activities in Europe. The EUCERD priorities also focused on issues relating to registries for rare diseases, health indicators, and reference networks. EUCERD has recently put several new reports online including the EUCERD/EMA Workshop Report of 4 October 2011 and the EUCERD 3rd Meeting Public report

National and European policy developments

On the political front, there were many noteworthy events this year. The International Rare Disease Day, created, organised and promoted by European rare disease patient umbrella group Eurordis, virtually exploded in 2011 with a frenzy of activity around the world. Held the last day of February, this year’s event was celebrated in 55 countries – up from 46 in 2010, 30 in 2009 and 18 the first year. Newcomers included Armenia, Iran, Mexico, Morocco, Nepal, Panama, Peru, Thailand, the United Arab Emirates, and Uruguay. The special day for rare disease patients, their families and all those who are involved in rare disease research, policies, treatment and care was the occasion for several significant actions.

At the European level, the long-awaited (and much debated) Cross-Border Healthcare Directive was adopted this year on Rare Disease Day, facilitating cooperation and improving equity in access to rare disease diagnostics and treatments throughout the European Union (EU). Also published on Rare Disease Day, the European Awareness of Rare Diseases Report presented the results of a Eurobarometer survey gauging the awareness for rare conditions as well as the level of public support for European-level measures. The survey, in the form of questionnaire, was undertaken in each of the 27 European Union Member States, with approximately 1000 citizens from each country participating, for a total of 26,574 interviews. While there were “significant differences” in awareness between the Member States, some “…95% of respondents believe there should be more European cooperation in this area and that rare disease patients should have the right to access appropriate care in another Member State”.

At the national level, Rare Disease Day was also the occasion for unveiling the Second French National Plan for Rare Diseases. Building on the achievements of France’s first National Plan for Rare Diseases – which as the first of its kind in the world, has become an international model – the second plan is streamlined to perform as efficiently as possible, with three central axes: Improving the quality of patient care; Developing rare disease research; and Expanding European and International cooperation. Other advances in the development of rare disease national strategies, which the Council Recommendation on an Action in the Field of Rare Diseases urges EU member States to accomplish by the end of 2013, include the issue of the final report Recommendations and Proposed Measures for a Belgian Plan for Rare Diseases, which was submitted to the Belgian Minister of Social Affairs and Public Health in October. Meanwhile, Austria, Poland, Serbia, Slovenia and Sweden have recently embarked upon the process of developing a national plan for their rare disease patients, and Switzerland is moving forward a project to develop a national strategy for reimbursing rare disease medicinal products.

Other key developments in Europe in 2011 include the launch of the EU Clinical Trials Register, allowing public access to information on any of the thousands of authorised clinical studies for medicinal products in the EU. Rare disease patient organisations and researchers campaigned for such a mechanism for years, in order to reduce duplication of effort and allow patients to see what progress is being made in their specific areas. The Clinical Trials Register provides information on clinical trials for medicinal products either with or without a marketing authorisation and offers access to information extracted from EudraCT – the database for all clinical trials commencing in the Community from 1 May 2004 onwards and only accessible to national drug agencies up to now.

Another triumph this year was the official recognition of clinical genetics as a specialty in the EU. Such recognition is critical both for the training of professionals and the organisation of related services. Only a few EU countries have not yet officially recognised clinical genetics as a specialty. The respective EC Regulation No 213/2011 amending Annexes II and V to Directive 2005/36/EC of the European Parliament and of the Council on the recognition of professional qualifications entered into force on 4 March 2011.

EMA, orphan drugs, and the biopharmaceutical industry

In the area of orphan drugs, the Committee for Orphan Medicinal Products of the European Medicines Agency issued 111 positive opinions for orphan designation. In 2011, 97 orphan designations have to date been granted by the Commission. Five orphan drug products received marketing authorisation in 2011. Also, the EMA this year issued its first positive opinion specifically for a paediatric marketing authorisation. The EMA also geared up a process in 2011 that would make prevalence figures for rare disease products transparent.

There were also positive actions on the part of industry, with several of the “big pharma” companies taking an active interest in orphan medicinal products and adding to their portfolio strategies. Meanwhile, many innovative advances were also seen from the cutting-edge small and medium-sized enterprise sector. The increasing involvement on the part of the biopharmaceutical industry is exciting news for academic researchers, health professionals, and patients.

Orphanet in on the action

In 2011, the Orphanet Joint Action launched the rare disease and orphan drug information portal into a new dimension. This instrument, which combines funding from the European Commission with each of the participating Member States, as well as from Switzerland, a collaborating partner, permits Orphanet to improve its offer in the EU and beyond. Another exciting development for Orphanet in 2011 was a partnership developed with Canada, extending Orphanet across the Atlantic for the first time. Negotiations are also ongoing with Japanese and Chinese stakeholders to explore the possibility of launching Orphanet into Asia, as well as with Brazil and Australia.

Other advancements in which Orphanet participated include its ongoing work with the Topic Advisory Group (TAG) for Rare Diseases for the World Health Organization, in the revision of the International Classification of Diseases, to produce its eleventh version (ICD-11). The main purpose of the TAG for Rare Diseases is to enhance the visibility of rare diseases in information systems using the ICD – notably for patient coding. Rare diseases have now been included in almost all the chapters of the ICD in preparation.

2011 rare disease funding opportunities

In July 2011, the European Commission released the content of its new call for proposals, which opened several opportunities for rare diseases. Other funding resources for rare diseases include E-Rare, the ERA-Net on rare diseases, supported by the European Commission ERA-Net scheme under the Seventh Framework Programme. This network of sixteen partners – public bodies, ministries and research funding organisations – from twelve countries announced the results of its third Joint Transnational Call in late 2011. Funding bodies from nine countries joined this call. Thirteen consortia were selected for funding. The rare disease areas of the chosen projects include haematology, metabolic diseases, neurology, dermatology, and congenital malformations. Therapeutic approaches include pluripotent stem cells, gene therapy vectors and customised animal models. There were also many calls for proposals in 2011 in specific rare disease areas and at the national level, such as the notable triumph for France with the funding of the Paris-based Imagine Institute of Genetic Diseases via the French government’s University Hospital Institute (UHI) scheme. The Imagine project focuses on understanding the mechanisms involved in genetic diseases and seeks to accelerate the development of new diagnostic and therapeutic solutions.

A critical issue that arose in 2011 and needs further consideration is how to meet the need for sustainable funding for European rare disease networks, which are typically funded for a three- to five-year period. Several ideas are under discussion on how to accomplish this.

The rare disease community can indeed be hopeful and triumphant looking back on all that has been achieved this year. Wishing all its readers a peaceful end of year, OrphaNews Europe looks forward to an equally exciting 2012.

 

Possible increased risk of opportune infection

BUS did not think that the results of this study were really that surprising, given the fact that immuno-suppressants suppress the immune system it is likely that you may suffer from infections of various sorts, whether it is cystitis, sinusitis, colds or flu or something more serious like cytomegalovirus colitis and viremia.

The following paper entitled “Cytomegalovirus colitis and viremia from mycophenolate mofetil monotherapy in birdshot chorioretinopathy” was published in Ocul. Immunol. Inflamm. 2011 Dec; vol. 19(6) pp. 450-2.

Author: Pantanelli SM, Khalifa YM

The paper describes a case of cytomegalovirus (CMV) viremia and colitis in a patient on mycophenolate mofetil (MMF) monotherapy for birdshot chorioretinopathy. It showed that treatment with MMF 1.5 g twice daily for 5 years led to leucopenia and a CD4 count of 299, which resulted in active CMV infection.

The papers conclusion was that treatment with MMF alone may put otherwise immune-competent individuals at risk for opportunistic CMV infection. It is hope that awareness of this possible association may allow for better monitoring, earlier detection, and treatment in future cases.

PMID: 22106917

URL – http://www.ncbi.nlm.nih.gov/pubmed/22106917?dopt=Citation

Birdshot local meeting in Market Rasen

The 1st Birdshot local meeting in the Lincolnshire area is going to take place on Saturday 11th February.    Market Rasen is a small market town on the edge of the Lincolnshire Wolds.  The town lies on the main road between Lincoln and Grimsby, the A46.   The informal meet-up is going to be held at the Red Lion from midday,  and will give people with Birdshot the opportunity to meet others with the condition in their local area.

We know of at least 4 members attending so far, and if anyone else with Birdshot lives close by and would like to link up with this group, please let SueB know on sue@birdshot. org. uk or email BUS on our usual email address and we will be pleased to pass on your details to SueB who is organising this meet-up in Lincolnshire.

This is a great local initiative and we are delighted that Sue has managed to organise this for BUS.