Landmark NORD Study Concludes FDA is Flexible in Reviewing Therapies for Rare Diseases

Oct 11, 2011, 06:00 ET from National Organization for Rare Disorders (NORD)

Released at Major Conference, Study Catalogues Flexibility in Orphan Drugs Approved Since 1983

WASHINGTON, Oct. 11, 2011 /PRNewswire-USNewswire/ -- The National Organization for Rare Disorders (NORD) today released a landmark report documenting flexibility in the Food and Drug Administration (FDA) review of potential treatments for patients with rare diseases.


Released at the U.S. Conference on Rare Diseases and Orphan Products, the report examined the basis for FDA's approval of 135 non-cancer "orphan drugs" – those for rare diseases – since the Orphan Drug Act was enacted in 1983 to provide incentives to encourage development of treatments for rare diseases.

This is the first study of its kind ever conducted and the first time that there has been a systematic examination of the basis for approval for any category of drug products extending over such a long period of time.  The study demonstrates a decades-long pattern of flexibility in FDA review of orphan drugs.

Frank J. Sasinowski, chairman of the NORD board of directors and author of the report, said: "We wanted to determine whether FDA requires that orphan drug applications provide the conventional effectiveness data that are ordinarily expected for most drugs for more prevalent diseases, or whether the agency has over the years exercised flexibility in approving drugs for patients with rare diseases.  This issue is critical to the patients and families NORD serves because the patient population available for testing of orphan drugs is, by definition, more limited than for drugs for more prevalent diseases."

NORD President and CEO Peter L. Saltonstall said: "We are gratified that this extensive study, spearheaded by NORD on behalf of the entire rare disease community, found that there is supportable evidence to document flexibility by FDA medical reviewers.  This study should provide an extra level of confidence for investigators, companies and investors who are considering developing new drugs for rare diseases."

While any disease affecting fewer than 200,000 Americans is defined by law as "rare," many rare diseases affect only a few hundred or a few dozen people.  Conducting the clinical studies required to develop treatments for these diseases poses special challenges to medical researchers, the report pointed out.

The NORD study looked at all drugs for diseases other than cancer approved as orphans since 1983 to identify when flexibility was employed in the review process.  The evaluation process distinguishes between flexibility applied as a result of a previously described FDA system, such as the accelerated approval program, or on a case-by-case basis.

For each of the non-cancer drugs approved as orphans since 1983, NORD sought to access the FDA approval letter, the labeling at the time of approval, the decision memoranda of the FDA officials who approved the products, and the reviews of the medical and statistical officers.  While such documents were retrievable in most cases, only subsets of those documents were recoverable for some drugs, especially for some of the earliest approved orphan therapies.

The drugs were then divided into three categories: those that, in NORD's judgment, would have met the traditional data requirements for effectiveness; those whose approval was based on flexibility applied as a result of some documented FDA system for flexibility; and those whose approval appeared to reflect case-by-case flexibility.

Of the 135 drug approvals studied, NORD concluded that 45 would have met traditional data requirements, 32 reflected "administrative flexibility" based on a previously documented FDA system, and 58 reflected flexibility applied on a case-by-case basis.

"This review of FDA actions concludes that two of every three orphan drugs approved show FDA's historic flexibility in its review of effectiveness data on orphan drug therapies," Sasinowski said.  "Therefore, FDA has demonstrated in its actions on orphan products that it recognizes the importance of therapies for persons with rare disorders.  It would be helpful for such flexibility and importance to be recognized in a formal FDA policy, and for FDA officials to incorporate and recognize that flexibility in a systematic way in their evaluations of each new therapy in development and under FDA review for Americans with any rare disease."

Saltonstall added that NORD undertook this study because, of the nearly 7,000 known rare diseases, only about 200 have FDA-approved treatments.  "Better understanding the regulatory process and the pathways most likely to lead to increased study of rare diseases and safe, effective treatments for patients is very important to us," he said.

The report was released October 11 in Washington D.C. during the U.S. Conference on Rare Diseases and Orphan Products sponsored by NORD and the Drug Information Association (DIA), in collaboration with the FDA, EURORDIS (the European Rare Disease Organization), the National Institutes of Health, and Duke University Medical Center.  More than 350 people concerned with rare diseases and orphan products attended the conference.

DIA Worldwide Executive Director Paul Pomerantz said the report was released at the conference because "this conference brings together all stakeholders — government, industry, medical professionals, patient organizations, and the investment community.  DIA is pleased to work with NORD to bring thought leaders to the table to discuss these important issues related to the development of much-needed treatments and ensuring that patients have access to them," he said.


Established in 1983 by patient organization leaders providing advocacy for the Orphan Drug Act, NORD ( is a nonprofit organization representing the nearly 30 million Americans who have rare diseases, their families and the patient organizations assisting them.  With offices in Washington DC and Danbury, Connecticut, it provides programs of advocacy, education and research, as well as patient assistance programs to help patients obtain needed therapies.


DIA is a neutral, global, professional, member-driven association of nearly 18,000 professionals involved in the discovery, development, and life cycle management of pharmaceuticals, biotechnology, medical devices and related health care products. Through our international educational offerings and myriad networking opportunities, DIA provides a global forum for knowledge exchange that fosters the innovation of products, technologies and services to improve health and well being worldwide. Headquarters are in Horsham, Pa., USA, with offices in Basel, Switzerland, Tokyo, Japan, Mumbai, India and Beijing, China.

SOURCE National Organization for Rare Disorders (NORD)