Int. Experts discuss what to expect in the future of rare disease research and treatment and where patients can go for help.
Linda Marbán Ph.D.
CEO, Capricor
What is the most promising thing on the horizon / what are you most excited about for rare disease research and treatment options?
A large segment of the estimated 7,000 rare disorders stem from genetic mutations, which can preclude particular proteins from functioning correctly or even being produced at all. The current state of the art for addressing such deficiencies is to infuse the missing protein, which is usually made on an industrial scale through recombinant DNA technology and typically needs to be infused every few days to every few weeks. The more novel approaches of cell and gene therapy are very exciting because the treatment is designed to directly correct the underlying cause, either by repairing or replacing the defective gene or by modulating the expression or disposition of one or more genes. These strategies offer the promise of much less frequent dosing, or in some cases a single treatment may be all that is needed for permanent benefit. Although the concept of treating with these classes of biologics is not new, after years of hype and disappointment we are now starting to see their realization as borne out by clinical results.
What do you see as the biggest obstacle in research and overcoming rare diseases?
Nearly all medications that are approved or in development can trace their roots to academic research, which relies on support from public sources. Even in a healthy funding environment, grant allocations for diseases that are suffered by only a few thousand people may not receive the same priority as more common conditions, despite their impact on individual patients. Researchers themselves may be drawn to studying populous conditions over others with the view that recognition of their successes will resonate more broadly, both within professional circles as well as among society at large. Although business incentives for companies to develop and commercialize drugs for rare disorders have been introduced in recent years and appear to be achieving their goals, it would be reassuring to see a similar level of commitment on the part of those bodies who are primarily responsible for supporting basic science on the national level.
What is the best advice you can provide to someone who is struggling with a rare disease?
Knowledge is power, and I would advise anyone who either has been recently diagnosed with a rare disease, or is the parent of a child born with one, to educate themselves as much as possible. Since our health care system focuses largely on accommodating patients with the most common illnesses, one really cannot rely on doctors alone due to knowledge gaps, and patients will find that they become experts of their own care. Online and other informational resources are readily available and can be good references but don’t be afraid to reach out to others and ask for help. Although therapeutic options may be limited, there are often opportunities to participate in clinical trials, which should be strongly considered if eligibility and logistics permit.
What is the best resource for a patient struggling with a rare disease?
Others who share the same or a related disease, as well as their families, can be a valuable resource for social and emotional support. Patient advocacy organizations exist for many rare diseases, and in many cases, maintain patient registries to keep track of those affected and to disseminate newsletters with updates on various aspects relating to the disorder of focus. These organizations often have local chapters which, in addition to connecting patients with one another in the community, can help with structuring care, selecting physician specialists, locating physical and occupational therapists who are knowledgeable in the disease, and facilitating financial aid for medication access.
Peter L. Saltonstall
President and CEO, NORD
What is the most promising thing on the horizon / what are you most excited about for rare disease research and treatment options?
We are seeing advancements in science that are very promising for rare disease research and treatments. One example is genome sequencing, which is accelerating the identification and understanding of genetic conditions at an exciting rate. With approximately 80 percent of rare diseases being genetic in nature, this information has the power to help millions of families struggling with rare inherited diseases.
What do you see as the biggest obstacle in research and overcoming rare diseases?
Given the advances being made in science and the future availability of new treatments, one of the greatest obstacles that we need to overcome as a community is the time it takes to reach an accurate diagnosis. The average patient still waits more than five years to be diagnosed. To help tackle this issue, NORD is working on a multi-front campaign to promote rare disease awareness among medical professionals and students.
What is the best advice you can provide to provide to someone who is struggling with a rare disease?
Know that they are not alone. There is a large community of patients, families, advocates and organizations here to support them. We recommend that families connect with their patient community or the patient organization that supports their specific disease. In doing so, they can tap into new information and resources, as well meet others who understand what they are experiencing. Families should also try and learn everything that they can about their condition so that they can be their own (or loved one’s) best advocate.
What is the best resource for a patient struggling with a rare disease?
Families struggling with a rare disease are encouraged to contact the National Organization for Rare Disorders (NORD). Our website offers a unique database of rare disease reports; a directory of patient organizations and research foundations; in addition to information on clinical trials and research studies. We also have a dedicated call center that can help provide information on NORD’s patient assistance programs, which provide financial relief to families in need.
Jerry Vockley MD, PhD
What is the most promising thing on the horizon / what are you most excited about for rare disease research and treatment options?
In the last three to five years, the biggest change has been in technology. New technology has become inexpensive enough to allow us to study these diseases in a way that was difficult before – you needed instruments the size of a room at a cost of millions and millions of dollars that now we can put on a lab bench that cost thousands – a big difference. That’s really a paradigm shift for us.
Technology is driving the change at the DNA level, the protein level, and the metabolite level. It allows us to better identify the disease, study its effect on cells, and translate that back to new treatments for patients.
What do you see as the biggest obstacle in research and overcoming rare diseases?
Funding is the biggest obstacle in rare disease research – it’s expensive. There’s never enough money to set up clinical trials for everything we need to test. It’s a challenge. Also, since new drugs are expensive to develop, once the drugs are developed they become expensive to buy and use. When we develop a new drug or treatment we want to make sure it’s also affordable for patients and families.
What is the best advice you can provide to provide to someone who is struggling with a rare disease?
Find the specialist who knows the most about your disease and who has the most experience treating other patients with your condition. Also, get to a center that understands your disease and is dedicated to developing new therapies to treat and even find cures for your disease. Lastly, make sure the specialist will work in partnership with your local physician.
What is the best resource for a patient struggling with a rare disease?
Contact a center that truly understands your disease and offers an integrated approach to care as well as cutting edge research. The center should be staffed by experts who are internationally recognized and published in their respective fields. In addition, the center should be staffed with specialists who work in partnership with one another to treat rare diseases and who collaborate with other specialists worldwide to share knowledge and advance understanding. Also, seek a world-class environment and a pediatric setting for children.
