Stakeholder Approach to Meet Significant Unmet Medical Needs of Rare and Orphan Diseases

By Gail S. Thornton, founder of Worldview Communications, and member of the Board of Overseers, Seton Hall University’s School of Diplomacy and International Relations.

Rare and orphan diseases are disabling medical conditions which affect nearly 30 million Americans, 30 million Europeans, 16.8 million Chinese and 1.2 million Australians. However, the burden of rare diseases in the rest of the world is difficult to estimate because epidemiological data for most rare diseases are not available.

Research suggests there are between 6,000 to 8,000 rare and orphan diseases in the world without a cure. In the U.S., a disease is considered rare if it is believed to affect fewer than 200,000 Americans – or almost 1 in 10 individuals, whereas, in Europe, it may affect less than 1 in 2,000 individuals. About 80 percent of those affected by rare diseases possess a genetic predisposition to the condition. Children comprise 75 percent of those affected by rare diseases, and among this population, 30 percent die before age five. Often times, rare diseases are categorized with neglected diseases (communicable diseases affecting individuals living in poor, developing countries); they are vastly different diseases.

Given the nature of these conditions, individuals and families who are affected by rare diseases encounter enormous difficulties in finding adequate medical care. In fact, there is a vital and urgent need for a multifaceted approach among governments, patient advocacy groups, medical societies, pharmaceutical and biotechnology companies and health insurance and managed care groups, to further accelerate the discovery, development and delivery of innovative, new medical treatments for these diseases.

For example, patient advocacy groups are taking an increasingly greater role in speaking on individuals’ behalf globally. In doing so, they are building greater awareness, momentum and recognition of these chronic, progressive and degenerative medical conditions and the associated costs to society as well as securing access to therapies that extend and improve lives. In the U.S., the National Organization for Rare Disorders (NORD) is a voluntary group of health organizations supporting innovative research, government policies and access to treatments deemed medically necessary. CheckOrphan is a non-profit organization based in California and Switzerland providing a voice for individuals affected by these diseases and a repository for daily news and research updates. They believe research is the key to innovation and will lead to cutting-edge treatments for these conditions. OrphanDruganaut Blog serves as a comprehensive source by providing competitive intelligence, news and articles on global orphan drug development and rare diseases. In Europe, The European Organization of Rare Diseases (EURORDIS) is a patient-driven alliance of organizations representing 631 rare disease patient groups in 58 countries, working with national and European Union health authorities to educate policy- and decision-makers on rare disease conditions and possible treatment.

As one of many global health care companies supporting the rare disease community, Dompé is a leading Italian biopharmaceutical company headquartered in Milan with a mission to become internationally recognized as a science-based company. The company’s innovative research approach identifies new molecules for the treatment of rare and orphan diseases that have a high social impact in areas where unmet treatment needs still exist. Their R&D focus is in diabetes, ophthalmology, oncology and organ transplants through ongoing clinical trials in the U.S. and Europe and in strengthening their R&D network globally.

Promoting rare diseases continues to be a global public health priority. Thanks to the ongoing collaborative work of all stakeholders, the tide of public awareness is changing for the better.

These stakeholders are facilitating international cooperation in scientific and biomedical research and development, promoting development of needed public health policies, and fostering investment in education, awareness and alliance-building, so that new therapies can be brought to this underserved population who are in desperate need of innovative medicines.