Significant advances have been made in fighting rare diseases over the past decades. In the 10 years prior to the passage of the Orphan Drug Act in 1983, fewer than 10 drugs for rare diseases were approved by the U.S. FDA. Since then, an estimated 400 rare-disease therapies have been approved. In 2014, rare diseases comprised more than 40 percent of the 41 new drugs approved by the FDA – the highest number since the Orphan Drug Act was introduced. The FDA continues to invest heavily in research of treatment for rare diseases, spending about $14 million annually on clinical trials through the Orphan Products Grants Program.

Despite this progress, there are still no treatments for the vast proportion of the more than 7,000 known rare diseases and conditions in the US. As a result, there remains a significant medical and economic burden on more than 30 million Americans afflicted by a rare disease – about one in 10 people, many of them children. Clearly, those in the rare disease community are a largely underserved population with a huge unmet need in available therapies.

Partnerships between pharmaceutical companies and patient advocacy groups hold the key to closing the rare-disease treatment gap. According to the National Organization for Rare Disorders (NORD), more than 260 dedicated rare disease organizations comprise their patient advocacy network. Rare Disease Day, founded by the European Organization for Rare Diseases (EURODIS) in 2008 and launched a year later by NORD, grows larger every year because of the continuing participation of a diverse group of advocates and pharma company sponsors. Their mutual commitment to improving patient care is the foundation for collaborative innovation in rare-disease education and research.

A Shared Mission

Patient advocates are passionate, knowledgeable activists who raise disease awareness among the medical community, policymakers, and government regulatory agencies. Patient advocacy played a critical role in passing the Orphan Drug Act, and continued efforts more than three decades later led to the 21st Century Cures Act in 2016. Many rare-disease advocates serve as “patient ambassadors,” connecting with other patients in the community and sharing their experiences about daily living and treating the disease. Many advocates volunteer for clinical trials of investigational therapies with potentially serious side effects, or enroll in placebo-controlled studies where they may potentially not receive active treatment. These brave individuals are willing to take tremendous risks so that others may benefit.

For their part, biopharmaceutical companies provide financial and scientific resources that drive the discovery of innovative rare-disease therapies. But their commitment goes beyond research, extending into patient advocacy. Companies regularly engage their own patient ambassadors who advise on key decisions and processes to ensure patients’ needs are incorporated during drug and clinical trial development, and that there is enough access to safe and effective medicines. There also are examples of industry-advocacy partnerships that advance research and treatment for rare diseases. In 2015, the US Hereditary Angioedema Association (HAEA) and four corporate partners pledged a total of $4.6 million to start the US HAEA Angioedema Center at UC San Diego. This first-of-its-kind institution offers comprehensive medical care to people with hereditary angioedema (HAE), a rare, debilitating swelling disorder that can affect people at any age, but usually manifests in children.

At Catalyst Pharmaceuticals, we actively seek working partnerships with rare disease organizations. For example, we gave an educational grant to Global Genes, a leading rare disease advocacy group, so they could start a web site ( for people with Lambert-Eaton myasthenic syndrome (LEMS), a rare neurological and neuromuscular disease that can impair patients’ quality of life, both physically and emotionally. (LEMS currently does not have a dedicated patient advocacy organization.) The grant also supports local “meetup” events which offer a forum for LEMS patients, caregivers, advocates, and medical experts to exchange practical information and discuss priorities for research, education, and clinical care.

Lessons in Advocacy

Pharma industry-patient organization partnerships are expected to become even stronger in the coming years. Still, there are some challenges that are testing this relationship. Despite growing efforts by pharma to incorporate patient advocates’ voices into clinical trials and drug development, there is still the perception among some that pharma is concerned more about profits than patients. Another challenge is maintaining the delicate balance between collaboration and independence; industry must remember to always act as a resource for patient advocates without being unduly intrusive or influential. Companies can refer to industry guidelines for patient outreach and engagement, which are published in the Biotechnology Innovation Organization (BIO) Guiding Principles for Interaction with Patient Advocacy Organizations and the Pharmaceutical Research and Manufacturers of America (PhRMA) Principles on Interactions with Patient Groups.

Moving forward, there are several ways that pharma can demonstrate long-term commitment to supporting the rare disease community. Leveraging our relationships with therapeutic experts, we can serve as a conduit for information-exchange between rare-disease patients and healthcare professionals who understand the unmet medical needs and unique challenges of this community. We can arrange for care-management services to educate patients on administering medications and managing side effects. We can fund educational resources for rare-disease advocacy groups, as well as provide logistical support for fundraising and awareness-raising activities. For all of these initiatives, the key is for both stakeholder groups to openly communicate about their roles, expectations, and objectives.

Building the Relationship in an Evolving Landscape

As we set our sights on the next wave of patient advocacy, pharma companies and patient organizations have a tremendous opportunity to fulfill our joint mission of empowering patients with rare diseases. We are partners in long-term scientific investment, and the constructive relationships between us can truly improve the lives of rare-disease patients and their loved ones. As the biopharmaceutical industry continues to engage and collaborate with advocates who are leading the fight against rare diseases, it is critical to keep patient well-being at the core of our efforts.

By Patrick J. McEnany
Co-Founder, Chairman, President and Chief Executive Officer
Catalyst Pharmaceuticals

Source: Life Science Leader