Rare diseases: overcoming barriers in R&D

Rebecca Aris interviews Peter L. Saltonstall

National Organization for Rare Disorders (NORD)

We interview Peter L. Saltonstall, CEO of National Organization for Rare Disorders (NORD), on current regulatory framework in rare disorders, why increased diagnoses are important and how further research is needed in these disease areas.

Rare diseases present many barriers to pharmaceutical research and product development. Peter L. Saltonstall, CEO of National Organization for Rare Disorders (NORD), however, is confident that these barriers can be overcome. NORD acts as the voice of the rare disease community, focusing its attention on the 7,000 currently recognized rare diseases.

He speaks with us here on his take on the current regulatory framework regarding rare disorders and the importance of better disease recognition in this area. In addition, he highlights that further research is needed into the more than 6,500 rare disorders that have no approved treatments.

Interview summary

RA: Peter, thank you for taking part in this interview. Could you start by sharing with us the work that NORD does?

PS: NORD is the National Organization for Rare Disorders. We have close to 200 member organizations, and we represent all individuals and families affected by rare diseases. We also have a Corporate Council consisting of companies with whom we work and who are doing research into new orphan products.

NORD basically seeks, on behalf of the patient community, to bring all these interests together – industry, patients, academia, government – to advance patient treatments and services. We advocate for legislative and regulatory policies that help our patients. We provide services such as Patient Assistance Programs to patients, many of them sponsored by drug or device companies. In fact, NORD pioneered these programs. We sponsor research into rare diseases. We regard NORD as the voice of the rare disease community.

RA: How would you define a rare disease?

PS: A rare disease is defined in the 1983 Orphan Drug Act as a disease that affects 200,000 or fewer Americans. That definition has been in existence for almost 30 years now. The National Institutes of Health estimates there are 7,000 rare diseases.


“We would like to see more pharma companies dedicate more resources to research into rare diseases.”


RA: How many people are affected by rare diseases?

PS: In the US alone, more than 30 million people have rare diseases. That does not include family members who are affected by the rare diseases that their family members have. Collectively, people with rare diseases are a major part of our population. Many of these diseases are genetic and affect infants and children, and many are chronic, lasting a lifetime.

RA: How many rare diseases have no treatment options?

PS: Unfortunately, only about 300 of these diseases have treatments approved by the Food and Drug Administration (FDA) for the condition. That leaves 6,700 without approved treatments. This is why we at NORD focus so much attention on the need for more research into the diseases and treatments.

RA: What changes in the healthcare system would you like to see to improve the lives of those affected with rare diseases?

PS: Many of the changes were achieved with the Affordable Care Act. The law will help assure that patients with rare diseases can get care and are not discriminated against. At the same time, we need to have more doctors trained to recognize rare diseases, because many patients are not diagnosed efficiently. We need to assure better access to care for all patients. And we need more research to find better treatments.


“We do not want to see a different regulatory standard, all drugs must be shown to be safe and effective.”


RA: What can pharma do to better meet the needs of patients with rare diseases?

We would like to see more pharma companies dedicate more resources to research into rare diseases. It has been seen that discoveries about rare diseases often teach us a lot about more common diseases and lead to better treatments for these diseases. We also would like to see more research dedicated to learning about the natural histories of many rare diseases. Finally, we support programs within pharma companies that provide services to patients beyond just supplying a drug. Some companies help patients by providing them with assistance in identifying medical and other resources, and these programs fill an important gap for patients. We ourselves have a program called RareConnect that helps patients with rare diseases communicate with each other.

RA: What advances in treatments for rare disorders have you noted since the PDUFA V?

PS: The provisions agreed to by the FDA in the PDUFA V negotiations called for more resources and training for the FDA. We fully support that commitment. We hope that the implementation of PDUFA V will lead to still greater attention and expertise being available to the FDA, and to the pharma industry, as we all work together to advance treatments.

RA: What changes would you like to see with regards to regulatory standards around the development of drugs for rare diseases?

PS: We think that the FDA has made major progress in dealing with treatments for rare diseases. We do not want to see a different regulatory standard, all drugs must be shown to be safe and effective. But we do want the FDA to be able to deal with applications efficiently, to show flexibility in terms of the testing needed to demonstrate safety and effectiveness, and to have a knowledgeable staff. The FDA has made enormous strides in that direction in the past few years. They have a real commitment to orphan products and we work closely with them.


“It has been shown repeatedly that orphan drugs can be good business.”


RA: As pressure to reduce costs increases in healthcare what can be done to encourage more research into the area of rare diseases where patient populations and therefore ROI may be low?

PS: It has been shown repeatedly that orphan drugs can be good business. A number of companies have done extremely well by focusing on rare diseases. The ROI can be quite satisfactory. We have seen good investment by companies, large and small, in orphan drugs and devices, and we expect to see more. Eventually, with genetics able to isolate genes, many diseases that are now regarded as common will be subdivided into a series of rare diseases. I would hope that investors understand the potential for ROI in the orphan drug and device areas.

RA: How can treatment performance be accurately measured in low patient populations as with rare diseases?

PS: Studies can be designed to evaluate safety and effectiveness even without huge patient populations. Natural history data sometimes can help, we need more of it. NORD sponsored a study last year showing that FDA exercised great flexibility in approving non-cancer drugs over the past three decades. So studies can be designed and executed even with small patient populations, and this has been shown time and again. Patient recruitment has been a barrier to conducting studies but we at NORD are also working on that, trying to establish patient registries and other means of communications among patients on an international basis to facilitate patient recruitment into clinical trials.

One of the things that I have learned at NORD is that barriers to research and product development can be overcome, as we have a patient population that is dedicated to medical research. I also have learned that better collaboration among the patient community, the pharma industry, the government and academia has begun to take shape, and will intensify in the future. I remain optimistic that we will eventually be able to treat most, if not all, rare diseases.


About the interviewee:

Peter is NORD’s President and Chief Executive Officer. He has over 30 years of healthcare experience in both for-profit and not-for-profit environments, as well as extensive federal and commercial market knowledge. Peter has held senior positions within a number of major academic medical centers and organizations, including Harvard’s Brigham and Women’s Hospital, Tufts-New England Medical Center and St. Elizabeth’s Medical Center of Boston.

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