Celebrating 30 years of the Orphan Drug Act and NORD

Peter L. Saltonstall

National Organization for Rare Disorders (NORD)

Peter L. Saltonstall shares the progress of NORD over the last 30 years, including the introduction of the Orphan Drug Act. He also discusses the future challenges for the rare disease organisation, which is dedicated to serving as the advocate of the patient.

The year 2013 marks a dual anniversary of great significance to the rare disease community: on January 4, 1983, President Reagan signed into law the Orphan Drug Act, and later in the year, Abbey Meyers and colleagues founded the National Organization for Rare Disorders (NORD).

For the past three decades, the incentives and structure provided by the Orphan Drug Act have led to the development and approval of more than 400 orphan drugs, defined as products that treat diseases affecting fewer than 200,000 patients.

And during the same three decades, NORD has served as the advocate for the patient with a rare disease, and as a resource that patients can turn to when they need special services that can be provided only by people who know and understand rare diseases.

Orphan drug development has become a fertile area for both researchers and investors. A number of prominent drug companies have focused on orphan drug development, and just in the past few years the largest pharmaceutical companies have formed divisions dedicated to orphan drugs.


“..the incentives and structure provided by the Orphan Drug Act have led to the development and approval of more than 400 orphan drugs…”


There are numerous underlying reasons for this remarkable progress. Understanding genetics enables researchers to develop treatments for rare diseases that previously were not well understood or capable of being accurately diagnosed. Financial incentives created by the Orphan Drug Act have encouraged investors to fund research. The recognition that many diseases affect sub-populations of patients in different ways has stimulated the development of targeted drugs. Commitments by both the National Institutes of Health (NIH) and the Food and Drug Administration (FDA) have created a friendly environment for orphan drug research.

But however much progress has been made, we’ve only started. Thus far, almost 7,000 rare diseases have been identified. The number of American patients affected by these diseases far exceeds the number of patients affected by any single disease: an estimated 30 million Americans have a disease that is regarded as rare. That does not count the caregivers and family members whose lives are affected by rare diseases.

The 400 drugs approved by the FDA treat fewer than 300 of these diseases. The vast majority of patients with rare diseases have no approved treatments, though many are being treated with drugs that have been approved for other uses.

The changes that have occurred and that are about to occur in the healthcare delivery system pose special challenges to the patient with a rare disease. NORD has taken a leadership role in identifying and seeking to address the following challenges:

Access: As our nation struggles with serious and complex economic issues, it is important to remember that the cost of failing to provide needed medical care is often much greater than the cost of providing such care. There are concerns that, as healthcare costs continue to increase, there will be pressure on insurers to limit the access of patients with rare diseases to treatments that are off-label or deemed too expensive. Since most rare diseases are serious and many are life-threatening, we will continue to advocate for patient access to treatments their physicians consider medically necessary.

Reimbursement: Many rare diseases are chronic and require lifetime care. Treatments often are very expensive, on both an annual basis and a lifetime basis. We at NORD want to assure that treatments are adequately and universally reimbursed so that no patient is ever denied treatment, no matter their financial circumstances. NORD pioneered and continues to invest heavily in programs that make it possible for patients to obtain the drugs and services they need.


“…it is important to remember that the cost of failing to provide needed medical care is often much greater than the cost of providing such care.”


Incentives for drug development: The FDA is the gatekeeper for new drugs and we have worked closely with the FDA to assure that it becomes a facilitator for orphan drug development. The recent FDA legislation, called the FDA Safety and Innovation Act, signed by President Obama in July 2012, recognizes the uniqueness of orphan products. Under agreements reached as part of the legislative process, FDA will expand and enhance its rare disease program with added staff, increased interaction with patients and industry, and guidance in the development of patient registries and natural histories. A study sponsored by NORD showed that FDA has been flexible in approving non-cancer orphan drugs since 1983, and the new legislation will provide additional pathways, such as one for breakthrough therapies, for flexibility.

Funding for more research: Rare diseases present unique scientific opportunities to discover and understand the genetic basis of certain diseases in a “pure” environment without other contributing factors. In that way, studying rare diseases often teaches us a great deal about more common diseases. As government budgets continue to face pressure, NORD wants to assure that funding for basic and translational research remains robust. There is so much to be learned, and so many new discoveries within our grasp. The promise of genetics has yet to be realized. NIH funding is a key priority for NORD.

Assuring private investment: While NIH conducts basic and translational research, ultimately it is up to private industry to develop and study new therapies. Business models have shown that companies that invest in orphan drugs, even though their target patient populations are often quite modest, can have an excellent return on investment, and moreover that the knowledge gained in developing drugs for rare diseases often can translate into new drugs for larger markets.

As we enter our fourth decade, NORD remains committed to the goals that were set forth at its founding: to be the voice of the patient with a rare disease and of the patient community, to seek to assure that patients with rare diseases are not left behind simply because their diseases are not well known or well understood, and to assure that patients receive the attention and the services they deserve.


“…studying rare diseases often teaches us a great deal about more common diseases.”


During the coming year, NORD plans many commemorative events to take note of the 30th anniversaries. On the last day of February each year, NORD along with its counterparts around the world celebrates Rare Disease Day. This year’s observance will highlight heroes and milestones from the past 30 years, as noted on the national website (RareDiseaseDay.US). We are at a unique time in history. Medical progress marches on at a crisp pace. We are able to diagnose and treat diseases that once were not recognized and were untreatable. At the same time, the US healthcare delivery system is undergoing a rapid change, setting the tone for future care.

During this time of rapid change, NORD remains dedicated to serving as the advocate of the patient. The patient voice never has been stronger, clearer or more important.




About the author:

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.

What will the next 30 years bring for NORD and the rare disease patient?