As this special feature discusses, a rare disease is defined as one that affects fewer than 200,000 patients in the United States. The tremendous importance of this topic lies in the fact that there are thousands of such diseases, tens of millions of patients suffer from them, the majority are of genetic origin and are life threatening, and far too few have available treatments. I would like to thank Mr Sasinowski for this contribution to the Journal.
Reprinted with permission.* Myozyme (alglucosidase alfa) for the treatment of infantile variant, a rapidly fatal form of Gaucher disease: The variant of this disease affects about 1,000 patients in the U.S. and about 3,000 patients worldwide. This drug was approved in April 2006 based on a clinical development program of fewer than 80 patients and a pivotal study that included 18 patients. * Ceprotin (human plasma derived protein C concentrate) for are fewer than 20 known patients with this disorder in the United States. This biological drug product was approved in March 2007 based on a study of 18 patients using comparison to historical control data." 2
The findings further support that FDA has demonstrated extraordinarily reasonable flexibility in its review of certain applications for orphan drugs and reinforce the need for FDA and drug companies to better understand and discuss the various types of flexibility.
When does a single positive adequate and well-controlled study of a new drug meet the statutory requirement to demonstrate substantial evidence of effectiveness? The answer to this question, particularly with respect to new molecular entities, has been of considerable debate since 1962 when the requirement that new drugs prove their benefit to patients became law. A 1997 revision to the statute provided one pathway to a single-study approval (a single adequate and well-controlled study plus confirmatory evidence), while a 1998 guidance issued by FDA provided additional pathways, one of which is the one that is most frequently cited by FDA (a single statistically very persuasive study). This paper explains these 2 distinct pathways and provides illustrative examples of how FDA uses each of these 2 pathways. Regulators, industry, patients, and investors should each find this exegesis of these 2 independent, yet equally viable and valuable, pathways to an FDA approval both illuminating and invaluable.
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