Rare Diseases

Challenges and Opportunities for Social Entrepreneurs

Nicolas Sireau

• Publisher: Routledge
• Year: 2017
• eBook ISBN: 9781351278386
• Topic: Business
• Subtopic: Business General
• Index: Business

There are 7,000 rare diseases affecting 6%–8% of the global population. That's 3.5 million people in the UK alone. Yet only 200 rare diseases have approved treatments. In recent years, there has been a surge of interest from business and social entrepreneurs in the field of health – including looking at ways to treat rare disease patients better and faster.

This book presents some of the latest developments in the world of rare disease entrepreneurship from a global group of experts. It examines the topic from the business angle, considering the drug development process and providing case studies of successful orphan drug enterprises. It also looks at rare diseases from the perspective of the patient, analysing the growing rare disease patient movement, a successful patient group that uses social enterprise techniques, and chapters on key requirements for helping patients with rare diseases through registries and centres of excellence.

The book will be an essential toolkit for social and business entrepreneurs who are interested in the world of rare/orphan diseases. It has the rigour of an academic publication, along with the clarity of a lay publication. An original and timely book, Rare Diseases will help to add knowledge and awareness to a vastly under-published subject.

1
Toward a focused, multinational, rare disease awareness initiative

Peter Saltonstall and E. Michael D. Scott

^*National Organization for Rare Disorders, USA

1.1 In the beginning

The tale of how rare diseases started to come to public consciousness began more than 30 years ago when Abbey Meyers, who was to become the founder of the National Organization for Rare Disorders (NORD), was concerned about a drug being taken by her oldest son.

Abbey, who described herself as ‘a simple housewife from Connecticut with children who have a rare genetic disorder’, first contacted the US Food and Drug Administration (FDA) in the late 1970s, when her oldest son was severely impacted by a rare disease.

As Abbey relates it:

Finally he was put on an investigational drug, and it worked. But a few months later the manufacturer decided to stop development of the compound. I did not know at the time that the decision was based solely on economic—not medical—reasoning. The drug was being developed for a prevalent disease and it was not effective for that condition. The manufacturer didn’t care that it worked for my son’s disease because the market was too small to be sufficiently profitable. In other words, it was an ‘orphan drug’.

Abbey went on:

Since I had no answers as to why we couldn’t get the drug, I phoned the FDA. Eventually I spoke to a woman in the Neuropharmacology Division and asked why development of the drug was being stopped. In particular, I wanted to know if my son was in danger; for example, did FDA find out that it caused a serious side effect such as cancer and therefore ordered the sponsor to discontinue the clinical trials?

The woman on the phone said, ‘I can’t talk to you until I speak to a Freedom of Information Officer’, and she promised to call me back. A few hours later she did call me back. She said, ‘I spoke to the Freedom of Information Officer, and he said I cannot talk to you’.

Needless to say, I hung up the phone in disbelief. That phone conversation, however, was the very beginning of a battle that culminated in passage of the Orphan Drug Act of 1983. I spoke with numerous rare disease support groups who felt the orphan drug dilemma needed to be solved, and that coalition evolved into NORD, dedicated to the identification, treatment, and cure of rare diseases through programs of education, advocacy, research, and services for patients and families. Ultimately the American orphan drug program became the model for an international effort to alleviate rare disease (Meyers 2005).

Until the US Congress passed the Orphan Drug Act, the terms ‘rare disease’ and ‘rare disorder’ had no special meaning, and the term ‘orphan drug’ had no meaning at all. The term ‘orphan disease’ was used but there was no standard definition for it. If you’d asked the typical healthcare professional what an ‘orphan drug’ or an ‘orphan disease’ was in 1983, the response would undoubtedly have been a puzzled look.

1.2 Where are we now?

Fast forward to the present time…and the world of rare diseases and orphan drugs (and devices) has changed—big time.

• NORD, which Abbey Meyers founded in 1983, remains the strong and principal US voice for the entire rare disease community, providing a spectrum of national advocacy and patient services
• EURORDIS (the European Organisation for Rare Diseases) is the European counterpart for NORD and represents the European rare disease community
• In virtually every part of the economically advanced world, there are national organisations that represent patients with rare diseases, but much more importantly there are disease-specific organisations, usually headed by a person with the disease or by a caregiver-relative, often a parent of a child, with the disease
• Government-supported entities worldwide, their regulatory officials, and government and private reimbursement personnel know exactly what is meant by a rare disease and by an orphan drug or orphan device
• Programmes, though not necessarily well-funded, exist throughout the world to support patients with rare diseases and to advance research into new therapies for them
• Members of the investment community—some, not all—have recognised that investing in the development of drugs and devices for rare diseases can be financially viable, and a number of companies have been formed solely for the purpose of developing and marketing orphan drugs and devices
• Major pharmaceutical companies have understood the potential of developing products for the treatment of rare diseases, and have acquired or established specific units to focus on these opportunities

As never before, and perhaps in a manner never envisioned by Abbey Meyers in 1983, the world rare disease community has started to develop cohesion and collaboration and even a sense of shared purpose.

But there is another side to this coin:

• The stark reality is that the vast majority of people on our planet, including many in positions of great power, still have no idea what a rare disease is, or how to define an orphan drug or device
• The stark reality is that government-approved therapies exist for only about 250 of the estimated 7,000 rare diseases
• The stark reality is that most patients with rare diseases still do not have the kind of support that they need to feel comfortable with their conditions or to get the levels of services that enable them to live comfortably with their disorders
• The stark reality is that many investors still shy away from investing in the development of orphan drugs and devices, presuming that the small number of patients who might benefit from the products cannot support a favourable return on investment, especially with constraining healthcare costs continuing to be the priority of every government
• And the stark reality is that even as medical progress provides glimmers of hope for many with rare diseases, the financial constraints on national healthcare delivery systems threaten to undermine the availability of possible new treatments

In short, the rare disease community has taken giant steps toward bringing together the interests of people with rare diseases and those capable of developing appropriate treatments; toward starting to take advantage of modern communications methods to bring patients together globally; and toward coordinating the various organisations that represent patients with rare diseases. These efforts are noteworthy and signal great interest and progress.

But the time has come to take the next logical steps: to massively broaden public awareness and understanding of rare diseases and their impact—not only on the individual patients and their families and caregivers, and the healthcare community that serves them, but also on society and medicine in a larger context.

We need a truly global initiative to foster extended awareness about the incidence, prevalence and scientific importance of rare diseases. We need to fully appreciate the extent to which what we learn about rare disorders can have profound consequences for our understanding of more common conditions. Wider global awareness of rare diseases will accelerate research and bring the patient community closer together. A global awareness initiative on rare diseases is especially critical because rare diseases are, by definition, rare, and only by understanding them and approaching them on a global basis can we can achieve successful treatments and enhanced quality of life for the affected people.

1.3 Efforts to date to increase awareness of rare diseases

For the past few years, the leaders of organisations representing the rare disease patient community have taken aggressive steps to increase awareness and international communications about rare diseases.

In the US, for example, NORD was very instrumental in creating a special caucus in the Congress consisting of Members of both the House of Representatives and the Senate to focus their attention on rare and neglected diseases. When the Food and Drug Administration Safety and Innovation Act was passed by Congress in 2012, in a rare demonstration of bipartisanship, rare diseases were singled out for special attention. In an agreement reached with the leadership of the FDA, the office in the FDA’s Center for Drug Evaluation and Research (CDER) was designated to receive increased staffing and support. This agreement was actively advocated for and aggressively supported by NORD.

The leaders of both NORD and EURORDIS have established a number of joint programmes that have started to bring together people with rare diseases and the healthcare professionals who treat them, regardless of geographic location, and that serve to increase awareness on an international basis about the needs of patients.

These programmes merit mention because, as we move forward, we need to build on these programmes and create new ones, including broad outreach to enhance public awareness of rare diseases.

For example, EURORDIS and NORD have launched online disease-specific communities so that patients with rare diseases can communicate with each other no matter where they live. For people with rare diseases, this is especially important because, in the areas where they live, there might not be a single other person with the same disease. Communications can aid in understanding medical care, as patients share information with each other about symptoms and treatments, but perhaps equally importantly communications among people with rare diseases can provide an immeasurable psychological support. The online disease-specific communities often are an integral part of a patient’s personal support network, so essential in treating any chronic disease.

EURORDIS and NORD have created numerous online disease-specific communities. In the future, EURORDIS and NORD will grow their joint efforts to create international online communities of patients and families, involving patient organisations from around the world when they exist, in order to raise their disease awareness internationally, to ease exchange and mutual support across countries and continents, and to promote new patient-generated knowledge.

Another example of the globalisation of rare diseases is International Rare Disease Day, an annual, awareness-raising event coordinated by EURORDIS and NORD. Rare Disease Day started in 2008. It always takes place on the last day in February, which, when February has 29 days, is the rarest day on the calendar.

During recent Rare Disease Days, national alliances across the globe, on every continent, organised activities that were designed to increase awareness of rare diseases generally. More than 60 countries participated in Rare Disease Day in 2012 and included local events, social media and viral communications. Rare Disease Day has served to raise public awareness and to attract attention of policy-makers.

In the USA, in 2012, both the National Institutes of Health and the Food and Drug Administration held special events on their campuses to recognise Rare Disease Day. In the UK, the lobbying group Rare Disease UK, led by Genetic Alliance UK, published an excellent report called, A Vision for a UK Rare Disease Strategy.

The importance of an international Rare Disease Day cannot be overemphasised. The events that take place on Rare Disease Day help focus attention not just on the patient community with rare diseases, but also on the need for new and better treatments. The day’s very existence and the enthusiasm generated by and among the patient community cause a bright light to shine on rare diseases and the special challenges they pose.

A third initiative with international implications are meetings that EURORDIS and NORD sponsor annually along with the Drug Information Association, to bring global focus to rare diseases. In the autumn in Washington, DC, and in the spring in Brussels, hundreds of leaders within the rare disease community gather to discuss the latest policy, regulatory and reimbursement issues, among others. (However, there will be no meeting in Brussels in 2013 because the International Rare Disease Research Consortium [IRDiRC] is scheduled to hold its meeting in Dublin, Ireland in March 2013.)

The singular theme that always emerges from these meetings is that advances can be made only through close collaborations among government, industry, the financial community and patients and their organisations. Whether the topic is medical, such as the critical need to develop natural histories for most diseases; or regulatory, such as the need to assure flexibility in the testing and approval process; or reimbursement, such as the need to assure that patients with lifelong chronic diseases have access to the medications they need, the solutions are all tied into collaboration among the various stakeholders.

There have been and are a large number of other initiatives designed to increase awareness of and bring coordination to rare diseases.

The International Conference on Rare Diseases & Orphan Drugs (ICORD), initially organised in Stockholm in 2005, and subsequently held in seven major cities around the world (Madrid [2006], Brussels [2007], Washington, DC [2008], Rome [2009], Buenos Aires [2010], Tokyo [2012] and Shanghai [2013]), has brought together leaders from patient advocacy organisations, public policy, academia and industry. ICORD has sought to create a core international community of rare disease leaders sharing the same vision and common objectives.

The IRDiRC, initiated in 2010 by the European Union with the United States, Canada, Japan and other countries as well as industry, promotes globally coordinated policy for the development of the knowledge base for rare diseases.

EURORDIS has a large number of projects that are designed to broaden awareness of rare diseases. For instance, the EU Rare Disease Patient Solidarity initiative has the objective of exchanging information—on a pan-European level—on ways of offering essential services to rare disease patients, their organisations and families. Other objectives are to compare the quality of services available in different EU Member States for such patients, organisations and families; to identify the main obstacles to the provision of high-quality services; to disseminate best practices in the services offered; and to provide services urgently needed to support patients, patient organisations and families, such as a European database for very isolated patients, new EU networks with dedicated web pages, and databases with information on relevant help-lines, respite care centres and summer camps.

EURORDIS was also involved in the Pan-European Patient Network for Information on Rare Diseases and Orphan Drugs. Its primary objective was to gather the information required to help develop public policies on rare diseases and improve access to quality information. The methodology was based on a survey, workshops both at European and country levels, an awareness-raising event in the form of the first European Rare Disease Awareness Week, and the publication of guidelines and pedagogical documents. This project involved more than 500 organisations from 19 European countries and greatly mobilised the rare disease community.

A noteworthy earlier EURORDIS project was designed to: strengthen existing national alliances (Denmark, France, Germany, Italy, Spain, Sweden, UK) and develop new national alliances in Europe around the theme of orphan medical products (Belgium, Netherlands, Portugal); develop partnerships among all alliances; identify needs and problems regarding orphan medicinal products in each country; share best practice and knowledge; and produce recommendations at both the national and European levels.

Another important network, NEPHIRD, coordinated by the Centro Nazionale Malattie Rare (Istituto Superiore di Sanità in Italy), includes public health institutions on rare diseases and has received EU support for several projects, including a European Network for Epidemiological and Public Health Data Collection on Rare Diseases (Phase 2). The specific object...

Table of contents

• Cover
• Half Title
• Title
• Copyright
• Contents
• Introduction
• 1 Toward a focused, multinational, rare disease awareness initiative
• 2 The challenges of scaling up an orphan drug enterprise
• 3 Building an entrepreneurial patient movement: A global case study from the AKU Society
• 4 The practicalities of clinical development of drugs for rare diseases
• 5 Navigating orphan drugs through the regulatory maze: Successes, failures and lessons learned
• 6 Drug repositioning strategies for rare and orphan diseases: A cost-effective approach for new uses for existing drugs
• 7 Why patient registries are crucial for finding cures for rare diseases
• 8 Challenges, strategies and lessons learned for the setting up and running of a European Reference Network for rare disease
• 9 Managing research advances into a rare disease: Case study of the Myrovlytis Trust
• 10 The BLACKSWAN Foundation for rare diseases
• 11 The rise and fall of Sanfilippo syndrome
• 12 Lobbying for a national rare disease plan in the UK: Lessons for rare disease patient alliances
• 13 The global drug development process: What are the implications for rare diseases and where must we go?
• Conclusion
• Index