Birthdays bring friends and families together to celebrate life, growth and progress. The same holds true for Rare Disease Day, as countless people around the world rally to raise awareness of rare disorders. In many ways, Rare Disease Day marks the birthday of a global movement – powered by patients and families – to push research forward, shape health policy, and support each other through remarkable and sometimes unthinkable challenges.
This year marks the 11th anniversary of Rare Disease Day. Together with founder EURORDIS, U.S. sponsor NORD, and the rest of our global community, it’s an ideal time to consider how we are overcoming the challenges of rare diseases and what opportunities lie ahead.
As members of the Rare Collective®, we have the privilege of working with industry and its stakeholders to understand hundreds of rare disorders. Our support often begins years before clinical studies, continues through regulatory review, and ultimately yields meaningful new treatments. From this experience, we offer insights to help guide the next ten years of orphan drug development.
By every measure, research into rare, serious and genetic diseases is generating promising new treatments where none existed. The Orphan Drug Act of 1983 – and parallel policies around the world – sparked researchers to apply science to tasks that were too-often ignored. Success can be quantified many ways:
- The growing number of approved therapies for rare disorders
- The even higher volume of orphan drug designations
- Surging investment in rare disease research, and
- Novel collaborations spanning patient organizations, academia, governments and industry.
The impact on patients, families, physicians and society cannot be measured by numbers alone. Earlier this month, the rare disease community celebrated the 20th anniversary of the first person dosed with Aldurazyme® (laronidase) to arrest many of the devastating complications of mucopolysaccharidosis I (MPS I). Today, Ryan Dant is a college graduate with a bright future in sports marketing who is preparing to celebrate his 30th birthday, a far different outcome from the prognosis shared by his physicians decades ago. Fueled by hope for his son and other families affected with rare disorders, Mark Dant continues to advocate as chairman of the board of the EveryLife Foundation for Rare Diseases.
Ryan is just one of thousands of people helped by enzyme replacement therapies (ERT) for serious and rare genetic disorders. Most recently, people living with MPS VII in the United States also gained access to an approved ERT. Other researchers are building on this foundation by investigating gene-based therapies designed to address unmet medical needs, such as complications of these disorders within the central nervous system (CNS).
Elizabeth Neufeld, one of the researchers involved in early research of MPS, described these waves of innovation in a book chapter published in 2006: It took nearly three decades to progress from the concept of enzyme replacement to commercial development of a treatment for Gaucher disease, and an additional decade to develop treatments for MPS I, Fabry disease, Pompe disease, MPS VI and MPS II. The list continues to grow with MPS VII and CLN2 Batten disease.
She noted, “Much of that delay was time needed for understanding the basic science underlying receptor-mediated endocytosis and trafficking of these enzymes. Perhaps this holds a lesson for other forms of therapy that are currently under development, such as gene therapy or stem cell therapy.”
While personalized medicine and genetic therapies hold tremendous promise for orphan-drug development, many fundamental challenges remain:
- How do we meet the needs of more rare disease communities? According to Global Genes, 95% of rare diseases do not have a single drug treatment approved by the FDA, and more than half of all rare diseases do not have a disease-specific advocacy group.
- How can we translate a deeper knowledge of diseases – and their underlying genetic mechanisms – into meaningful treatments?
- How can we build a more complete and common understanding of genetics across audiences, especially when research is advancing so quickly?
- How can we identify patients and make diagnoses earlier? How can we support newborn screening as a proven, valuable method of doing so?
- How do we apply insights across diseases – both rare and common – to benefit more patients?
- How do we help patients and families prepare for transitions made possible by treatment – from living more independently to looking for colleges to building careers, managing finances and starting families?
- How do we ensure that all patients have access to care and treatment, regardless of health plan, or socio-economic background?
Thankfully, many talented researchers, advocates, policy makers, companies and investors around the world are committed to meeting these challenges, in close partnership with patients and families whose voices have never been more powerful.
One such voice is Jana Monaco (pictured to the right). Mother to Stephen and Caroline, two children living with Isovaleric Acidemia with secondary carnitine deficiency, Jana has been on the frontlines of advocacy for improved newborn screening requirements. Her family’s story is a representation of the improved outcomes that are possible with newborn screening and early treatment intervention. We are inspired by the efforts of families such as the Monacos and so many others in research, industry, and government who are changing the lives of people living with rare diseases.
For the Rare Collective, it’s a privilege to contribute to this effort. Together we share a goal of making more birthdays possible for the millions of people worldwide diagnosed with devastating and rare genetic diseases. We approach the next eleven years with hope, drive, and gratitude for a global community united by a common cause.
