Times of austerity always affect those who are already most in need and vulnerable. For this reason 2010 may become a year with serious setbacks for Rare Disease patients. Already a number of disappointing news confirm this apprehension: Recently we learned that the compromise on the directive on cross boarder health care will not bring the progress for Rare Disease patients that we had hoped for. On the contrary there is absolutely no mention of rare disease patients in the final version of the proposal.

In addition we start seeing examples that access to reimbursement of new drugs will be delayed or denied at national level. In Sweden a committee (TLV) evaluates the benefit of drugs reimbursed by the healthcare system, A recently authorised orphan drug, Kuvan, developed for PKU (Phenylketonuria) patients, will not be automatically reimbursed. This drug will only be reimbursed if the local authorities of the regions so decide. This is a major threat to a subset of PKU patients who have difficulty complying with the normal very restrictive diet.

In addition, the process leading to this deplorable decision violates the principles of patient involvement that we have fought hard to gain respect for. The way the Swedish and many other countries, have designed their procedure for reimbursement decision, implies that it is only for the company putting the drug on the market to produce documentation on the need for the drug. Therefore, patients have to rely solely on drug company representatives’ competence and commitment to provide this information whereas those most affected, the patients and their organisations, are not consulted and have no right to contribute separate information or challenge the decision of the committee. The decision on Kuvan has now been brought to the Swedish court. But what will be the situation while waiting for a decision?

At its meeting on July 2, the board of directors of Eurordis discussed to what extent governments will cut back on expenditure for orphan drugs. The board found it essential to monitor the development closely and decided to invite rare disease national alliances to collaborate in a survey in order to identify changes in real access to reimbursement of orphan drugs.

In the current political context, it is necessary that the new EU Committee of Experts on Rare Diseases soon becomes operational. Therefore it was seen with some concern by the board of Eurordis that the first meeting of this important new committee, initially foreseen for May of this year, has been postponed to December 1.

Being diagnosed with cancer, or experiencing a recurrence, often puts individuals and their families in an emotional roller coaster ride. Moreover, in cancer, treatment decisions often need to be taken within days to avoid further progression of the disease. Taking tough decisions upon life in the downfall is already difficult enough. To make an informed choice between the bad and the ugly, and to enable informed decision making with their medical professional, patients desperately seek for quality information.

Especially in rare cancers, or any rare disease, this is especially challenging because they struggle to find a medical specialist or a patient support group in their home town at all. Often enough, the consultation time with the doctor is too short to clarify all essential questions. Information in local language is often not available at all, outdated or just too technical. Most patients then end up in Google and the likes, or even become virtual US citizens to be able to access websites — if they are lucky to speak English well enough. Whilst the political debate around “information to patients” and “advertising” has been going on for years as if a walled garden would still exist, or could be built, around the Internet health space, European cancer patients continue to suffer from the lack of access to quality information while the alluring bait of miracle healers, counterfeit online pharmacies and door-to-door advertisers continues to be omnipresent.

I believe that empowerment of patients is a pre-requisite for health, and access to high quality health information is fundamental to achieve this. Patients across the European Union regard access to information as a fundamental right, as long as it meets stringent quality principles.  Patients, especially those with a rare disease, are particularly isolated and vulnerable without effective access to information.

Patient group representatives actually provide day to day direct support to patients living with a disease. However, being mostly laymen, they are facing similar barriers to access quality information. Patient group representatives should be supported, rather than hindered, in accessing medical information, to ensure their information provided to patients is evidence-based, useful and relevant.

Nobody, not even the industry, is asking for a US-based advertising model for prescription medicines. Informed patients, and especially patient group representatives, require access to quality information from trusted sources. Core quality principles developed e.g. by the EU Pharmaceutical Forum provide a framework that should be strictly adhered to by all information providers, whether official, public or private organisations. However, it is unrealistic to expect that any public body can cope with a prior approval of all information made available for thousands of diseases on the Internet. A mix of self regulation, co-regulation, codes, quality seals, validation and oversight should be instituted, without increasing further bureaucratic delays in providing information to patients.

Any a priori approval mechanism will eventually strengthen the current situation: authorized websites put their scarce resources on where they perceive the strongest needs, namely the most common diseases by incidence and prevalence. Rare disease patients are eventually left behind, as their priority comes last on the editorial budget of a website or magazine. Furthermore, smaller patient organisations just can’t afford to go through series of formal authorization procedures, and don’t have the funds to get legal advice to be protected against potential penalties.

There is common agreement across patient groups that the current ban on Direct to Consumer Advertising should be maintained. Health care professionals, national competent authorities and patient organisations should remain important sources of health information. However, industry may also be a valuable source of non promotional information on medicinal products, provided that quality principles are strictly adhered to, and are subject to appropriately robust control with penalties enforced on violation of these rules.

The situation in Europe on Information to Patients is incoherent, and a comprehensive EU information to patient strategy is urgently needed. Seeing the positions of both both hard-core consumer rights people and laissez-faire pharma, we are all in need to be more nuanced. There are good examples, like the FASS portal in Sweden (http://www.fass.se) which provides information about all prescription medicines in Swedish lay language, including trial results, safety information and packaging information. There are also bad examples, like in Germany where even the formally authorized package leaflet becomes advertising when provided separately from the box of pills, and where even the highly regulated Summary of Product Characteristics is banned from the general public.

The debate needs to be more patient-centric, and needs to focus on real needs of patients rather than drawing a black and white image — as if anyone was asking for naked men dancing in TV spots for a blue pill, or as if patients would choose to take more cancer drugs just because they have access to medical information.

The debate around “Information to Patients” now requires more courage, commitment and real action at EU and Member State level.  I think, after 10 years of inconclusive debate and numerous position papers provided by all stakeholders, including representatives from the patient community like the European Cancer Patient Coalition, the current proposal of the EU Commission deserves to come into effect now. We all must acknowledge that the borderline between information and advertising will never be sharp, and there will always be difference in opinion about where it is. For the sake of patients, we need to come to a solution now. Otherwise patients will continue to suffer from the lack of information, suboptimal adherence to therapies, suboptimal outcome and unnecessary suffering, while the promises of wonder healers will continue to dominate search engines due to the absence of quality information across all diseases.

Patient groups have recently called upon the Commission, the Parliament and Member States again to come to a speedy agreement with all stakeholders. Although the whole process has been fragmented, the current EU political momentum on “Information to Patients” is timely and welcome, and must result in tangible progress. We all need to ensure that all patients across the EU, regardless of status, nationality, economic background, language competence, Internet literacy or disease, are able to access the information they need.

Patients and families will still get on a rollercoaster ride when being diagnosed with diseases like cancer, and doctors will surely remain to be the key source of information. However, a coherent and practical Information to Patients strategy on the EU and Member State level will make sure patients are at least empowered to know their options – and participate by taking an informed choice.

Jan Geissler
Director European Cancer Patient Coalition, 20 April 2010

Michael Astrue

The National Organization for Rare Disorders (NORD) considers today’s announcement by the Social Security Administration (SSA) of expansion of the “Compassionate Allowances” program to be extremely important to patients and families affected by rare diseases.

Since Michael Astrue became Social Security Administrator, he has provided strong leadership in addressing issues that were very difficult and discouraging for people with rare diseases.  NORD applauds SSA for creating and now expanding the Compassionate Allowances” program, which provides expedited review of disability applications for people with severely disabling diseases.

Over the years, people with rare diseases have often encountered delays and frustration when they apply for Social Security disability assistance because those making the decisions are not familiar with their conditions. In 2008, Commissioner Astrue moved to address this problem by establishing the Compassionate Allowances program. Initially, the program covered 50 diagnoses. Today, 38 additional ones were added to the list.

Social Security selected the 38 medical conditions following public hearings and input from medical experts at the National Institutes of Health (NIH), as well as NORD’s Medical Advisory Committee and other medical experts. Additional information about today’s announcement is available on NORD’s website (www.rarediseases.org).

Related press release: http://www.socialsecurity.gov/pressoffice/pr/cal021110-pr.html

So I’m happy to sign up and open this door.  I can promise to make at least one post per month, but like many of you I am wary of internet timesinks: Facebook, Twitter, Ebay, Craigslist, Blogs, not to mention our own email inboxes (personal and business) offer potential for both productivity efficiencies and wastages.  But let’s try it: NORD and EUORDIS are strong partners in our shared mission to provide access to new effective therapies for people with rare diseases and if they’re sponsoring this venue, well, I’m proud to be invited to contribute.

Tim

In the U.S., the health care reform process has been extremely confusing to many people. The language in the various bills is complex. And many of the proposed changes won’t take effect for several years, even if enacted now.

NORD’s position on health care reform, from the very beginning, has been that any plan needs to include the following measures:

• Discrimination based on pre-existing conditions must be eliminated

• Annual and lifetime insurance caps must be eliminated, and patients must be protected against catastrophic out-of-pocket costs

• Insurers must not be allowed to cancel an individual’s coverage as a result of a bad diagnosis

• Reform must include tax credits and other direct financing support to assure that everyone can afford coverage

It appears, at this point, that most of these issues are being addressed—at least when reform fully kicks in some years down the road. However, the lifetime and annual caps issue still has not been resolved, and many Americans don’t realize this.

Lifetime and annual caps would be eliminated, at least in the future, under the House of Representatives health reform bill. In the Senate bill, however, which appears now to be the likelier of the two to prevail during the reconciliation process, lifetime and annual caps would not be eliminated for existing plans that currently have caps. As a result, millions of Americans would still face the prospect of losing their health coverage as a result of chronic illness or a single catastrophic illness or injury.

A PriceWaterhouseCoopers study commissioned by the National Hemophilia Foundation found that the most typical caps are $1 million or $2 million. For people with serious rare diseases, it’s not at all unlikely that such a cap might be reached relatively early in life. For instance, a 24-year-old man with hemophilia predicts, in an online video, that he will reach his lifetime cap in about three years.

This is a serious issue and all the more disturbing because many Americans don’t yet understand that lifetime and annual caps may remain a reality, even after health care reform. NORD is urging that, on this issue at least, the final legislation follow the recommendations in the House bill rather than those in the Senate bill.

Otherwise, many people may discover—when it’s too late—that they still have unrealistic limits on their medical coverage, even after a reform bill has been adopted.

The new authority of DG SanCo should further strengthen the public health strategy and objectives of EMA so to better serve patients and citizens. Our expectation is that under the authority of DG Sanco, the European Medicines Agency will create as soon as possible a new Working Party for the Assessment of the Clinical Added Value of Orphan Drugs so to produce Common Assessment Reports and Road Maps for the post-marketing research activity, in particular on effectiveness and relative effectiveness.

The EU Committee of Experts on Rare Diseases (CERD) will be composed of 51 members. The Committee will be composed of 1 representative from each 27 Member States appointed by their governments and 25 representatives appointed by the Commission: 4 patient representatives, 4 industry representatives, 9 experts representatives of projects funded by DG SanCo including representatives of the European Reference Networks, 6 experts representatives of projects funded by DG Research, 1 representative from the European Centre for Disease Control. All 51 members will have alternates. As soon as the Decision will be published, a Call for Expression of Interest will be issued by the Commission to appoint the the representatives to be appointed by the Commission.

The first meeting of the EU Committee of Experts on Rare Diseases (CERD) is foreseen for End February 2010 / Early March 2010, around Rare Disease Day, in Brussels.

Related link: European Commission Communication on Rare Disease

Health professionals have long been so helpless in front of a rare disease that they often did not even dare to make a diagnosis.  Not any more. Diagnosis is now available for about 1,900 diseases, though not one single European country can provide all existing tests. Use of existing treatment and drugs has improved. Increased numbers of orphan drugs are now on the market. Rapid progress is made in advanced therapies. Today no one should have the right to say to a family: “nothing can be done”.

EurordisCare studies* show that diagnosis alone considerably improves quality of life  and life expectancy by reducing unnecessary medical interventions, inappropriate treatments (including psychiatric), the birth of other affected children, maladapted family behaviour and the loss of confidence in medecine.

No diagnosis: no treatment. For example: gene therapy, recently successful for children born with adrenoleukodystrophy, must be implemented as early as possible in life to prevent irreversible brain damage.

National plans

How to give isolated patients and families equal access to early diagnosis and care? By bringing together all available expertise and resources. In 1993, Denmark organised two centres of expertise for rare diseases, then Sweden and Norway. In 2001, Italy designated regional centres. France implemented the first national plan for rare diseases from 2005 to 2008, soon to be followed by Bulgaria, Romania, Spain and Portugal. Following the Recommendations of the European Council of Ministers, plans are currently in preparation in Germany, Hungary, Ireland, Denmark, Sweden…Everywhere, patients and their associations are playing a key role throughout the process.

What do we want in a national plan or strategy? Integration of all initiatives and resources: improved diagnosis linked to better awareness, information, training of professionals, clinical laboratories and centres of expertise; centres of expertise instrumental for research, registries and clinical trials, good practice guidelines, improved social care. Last but not least, long term sustainability of appropriate health and social policies, vital necessity for 30 millions patients affected in Europe by one of the 6,000 to 8,000 rare diseases.

*Eurordiscare studies : “The voice of 12,000 patients”, www.eurordis.org

The European Union and its Member States are faced with the challenge of an emerging field in medicine: personalised medicine. Therapeutic interventions, and in particular medicinal products, are increasingly intended for well targeted and smaller patient populations.

These interventions are usually intended for the prevention, diagnosis, treatment, cure or long term management of severe, debilitating, life-threatening diseases. They are using high value innovations, made possible thanks to the progress of medical research such as: pharmacology, gene therapy, cell therapy, tissue engineering, gene testing and other sophisticated diagnostic tools, including medical imaging and high-tech medical devices. Bringing these innovations to patients, as well as guaranteeing the best possible care and medical practices, while optimising the use of healthcare resources, requires both a higher concentration of expertise and an increased collaboration at the EU level.

This challenge is one more reason for policy makers at Member States level as well as at European level to make rare diseases an always higher priority in the EU 8^th Research Framework Programme and the 3^rd EU Health Policy Programme, both covering the period 2014-2020. Rare diseases are the laboratory to prepare the future of healthcare. Rare diseases are already at the forefront to help shape the future of healthcare.

Related Links:

• EU 7th Framework Programme

Seriously ill patients who have exhausted all treatment options often seek access to investigational drugs by way of government-sanctioned “expanded access programs”.  Recently, the U.S. Food and Drug Administration (FDA) implemented new regulations to clarify and increase patient access to investigational drugs.

However, even with the new rules, this topic is more complex than it may seem on the surface.  And it has particular relevance to people with rare diseases since most rare diseases have no approved treatment.

To explore the various sides of this issue, NORD recently co-hosted (with Idis Pharmaceuticals) a media briefing on this topic.  Both NORD and Idis are providers of expanded access programs.

Representatives of FDA, patient organizations, industry, and a university bioethics program spoke from their various perspectives.  They raised some fascinating points in this ongoing discussion.  Some of the things the speakers said were:

• People with rare diseases are highly motivated to try investigational drugs because they have few treatment options. In fact, there is no approved drug for most rare diseases today.

• FDA considers access to investigational drugs for treatment purposes important and supports it as long as it doesn’t compromise the clinical trial process and gives appropriate consideration to patient safety.

• Expanded access programs must be set up in a way that is fair and consistent for all patients.

• The expense of making drugs available through EAPs can be significant, especially for small start-up companies.

• Companies may be reluctant to enter into such programs because they may fear that an adverse event could jeopardize their product’s approval.

• Traffic rules, created for the general good, may be suspended in an emergency, such as when an ambulance is speeding someone to a hospital. Many rare diseases should be considered emergencies.