Individual funding request – a call for help!

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

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

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?

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

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?

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

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

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!

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.