This blog was written by Tom Hughes, CEO of Zafgen, as part of the “From the Trenches” feature of LifeSciVC.
Last week on February 28th – as I sat down to write this short blog– was Rare Disease Day 2015.
Rare diseases, and there are estimated to be 7000 of them, impact almost 30 million people in the US alone, according to the National Organization for Rare Disorders (NORD). These diseases – such as Spinal Muscular Atrophy, Fabry Disease, Duchenne Muscular Dystrophy, obviously weigh heavily on the patients and families impacted, and on the healthcare system as a whole. It’s hard for many of us to appreciate the impact of having a child born with a debilitating or life-limiting disorder, to struggle with having a poorly understood condition, to be studied as a patient with an unusual and challenging condition, or to agonize with being misunderstood while seeking an accurate diagnosis or treatment approach. It’s tough to ponder. We have a long way to go in medicine.
One patient’s journey through a rare disease experience can be found in an incredible book titled “Brain on Fire” written by Susannah Cahalan. The book details her experience with anti-NMDA receptor encephalitis, which temporarily robbed her of her sanity, nearly destroyed her life, and for which treatment cost more than a million dollars over the course of less than a year. Devastating? Yes. Rare? Certainly. Worthy of focus from our industry? Definitely, although existing medications and a gifted physician did save her life. The disease nearly robbed us of an incredibly talented journalist, and worse still, could have led her to be institutionalized and labeled as ‘insane’.
Until the Orphan Drug Act was authorized in 1983, many rare diseases remained unaddressed – in truth, orphaned by the industry due to complex biology, challenges with diagnosis, difficult patient identification, and other issues including navigating market access hurdles across multiple geographies.
Our company Zafgen is dedicated to significantly improving the health and well-being of patients affected by obesity and complex metabolic disorders. Through an interesting series of confluent events, we launched efforts in two rare disorders (Prader-Willi syndrome and hypothalamic injury-associated obesity) with our lead molecule over the past few years. I have to say, coming from a 21 year career at a major pharma company spent discovering drugs and tackling the highly complex and expensive development of drugs for common diseases like dyslipidemia and type 2 diabetes, it has been eye-opening.
This rare disease path has had very concrete impacts on our strategy, our ability to access funds and non-financial resources, and on our momentum as a team. Working on rare diseases with our first drug candidate helps Continue reading "Rare Diseases, Rare Opportunities"