Rare Dedication: the Principles of Sigma Tau

Rare Dedication: the Principles of Sigma Tau

02.29.12 | By Preet Bilinski

Although we are recognizing today as Rare Disease Day, for some people, every day is rare disease day. Ask Sigma-Tau what's the difference between their commitment to fighting a disease affecting 300 and 3,000,000, and they'll tell you: nothing. Below, we sat down with Sigma-Tau's Gregg Lapointe to discuss this important issue:

What compelled you to join the fight against rare diseases?

Dr. Claudio Cavazza, the founder of Sigma-Tau, had a vision that no patient should go untreated just because the disease they were fighting was so rare that only a few hundred people suffered from it. He instilled an unwavering commitment to develop novel medicines for small numbers of patients. Since 1989, Sigma-Tau Pharmaceuticals, Inc. has focused on rare diseases. With 7,000 identified rare diseases affecting 30 million Americans, and with treatments for only 200+ diseases available, there is clearly a need that is not being met.

We feel that all patients deserve the best that science can offer and place considerable scientific resources behind the discovery of compounds that benefit the few.

Because we focus solely on the development of medicines for patients with rare diseases, we also have the unique privilege of being able to meet and interact with so many of the patients we treat. For us, our business mission is entirely personal.

Why do we do it? Because, every patient deserves hope.

In your mind, what are the greatest challenges to continued progress?

The regulatory approval pathway for rare disease medicines presents unique challenges that result in inconsistent application of standards by which a medicine will be approved. This is because rare diseases are often profoundly disabling with multiple morbidities, affect a very small number of people and there is often a paucity of expert knowledge surrounding the rare disease, precisely because it is so rare. As a result, when the FDA reviews a rare disease medicine for approval, they are often reviewing a disease state that they have never reviewed before with a patient population so small that normal statistical methodologies cannot be adequately applied. The result is that a company that might be interested in developing a medicine for a rare disease may find the uncertainty surrounding the regulatory approval pathway too daunting to undertake the risk to develop the medicine in the first place.

What's your holy grail? What do you hope to achieve in the next decade?

We hope the biopharmaceutical industry, patient organizations, and the FDA can work together to find a more predictable and efficient clinical and regulatory pathway that recognizes the uniqueness of rare disease, and that this regulatory clarity will result in more and more biopharmaceutical companies willing to devote their scientific and financial resources towards developing innovative and novel medicines for rare diseases, and we hope that these will include medicines for some of the smallest patient populations. We also remain hopeful that some of the new medicines developed for patients with rare disease will ultimately prove to be catalysts for treating other, broader diseases.

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