Transitions in the battle for rare disease treatments: assistant professor, biotech executive, Foundation president, and Chief Executive Officer
By Emil D. Kakkis, M.D., Ph.D. June 20, 2011
Dear Partners and Friends,
After two years of building a Foundation to push for rare disease policy improvements, I am now shifting most of my time back toward developing treatments for rare diseases at a new company called Ultragenyx. With my continued guidance, and an updated name, the EveryLife Foundation for Rare Diseases will move forward and continue its support of the rare disease community. Through both of these roles, I will continue my unwavering commitment to make more rare disease treatments available.
I started the EveryLife Foundation as an important way I could fight for improving the treatment of rare diseases through scientifically sound changes in the treatment development process. This change toward working on rare disease policy was a natural step in the same battle I have been fighting since I made the commitment as a fellow in genetics to treat something that had never been treated before. As an academic, I did what I could at the science level to develop the treatment but I had too little money to make it happen for patients. I solved the science part, but I finally reached a difficult impasse on the translation to treating people because of the extraordinary costs of development. A family and a biotech company joined the effort and saved the project.
At that critical time, I realized I needed to join a biotechnology company, and leave academia because I knew that I would have far more resources and support from talented people to develop more treatments while in a company than as a professor. I also knew that by being in the boardroom, I could fight for genetic disease treatments as an important direction and manage the issues of the biotech business that had denied the investment for genetic diseases in the past. I was told then that I would lose my academic credibility by joining a company, but I knew that I would only lose credibility by doing the wrong things. If I kept focus on getting patients treated, and never compromised, there would be no problem.
After 11 years in biotech and three product approvals, I realized that I needed to focus on the larger issues of rare disease policy due to the increasing number of challenges posed by regulation of drugs for diseases with little development history and insufficient investment. I could not take on policy as a company executive, and decided to start fresh with a foundation effort and drive forward for change. To tackle these policy issues at the Federal level, I knew we would have to initiate a rational discussion that would lead to thoughtful and scientifically sound improvements to the development process.
In starting the Foundation, I set a time limit of two years of full time work and committed a huge personal investment to tackle the problem. After 179 patient and physician group endorsements of our Campaign, testifying to an Institute of Medicine committee studying rare disease treatment, testifying at a Congressional hearing on rare disease treatment regulation, appearing at numerous workshops and Orphan conferences, and speaking and writing and doing everything we could as a team, we have accomplished a great deal. In many ways, the outcome has exceeded my expectations as a larger chorus of voices has joined in the push for improvements in the development process. The momentum will continue this year with the Brownback-Brown amendment report and the diligence the FDA is showing in pursuing positive and meaningful improvements to the regulation of rare diseases. We will see what they say in the report, and I hope they will be bold and not meek.
With all the success and momentum, I can now back down to 10% time on the Foundation, continuing to guide it and fund it as it moves this coming year into the longer phase of implementing change, completing workshops on rare disease topics such as surrogate endpoints, supporting rare disease groups such as, the Rare Disease Legislative Advocates (RDLA), and the Global Genes Fund, and also providing special regulatory/clinical support to parents, professors or foundations trying to do treatment work. The work of the Foundation goes on and will continue to advocate for positive, scientifically sound change.
I realize now that to make this change real for patients, we need to develop more products for rare and ultra-rare disorders. We need to test and develop the methods and create the precedents that will drive the field forward. To do this, I need to be a leader in the development of rare disease drugs. I also needed a team that were committed and passionate about developing treatments and that wanted to work for a company that made no compromises and breathed innovation.
My answer was to create a new biotech company with the ethics and focus required to treat rare disease. The company would raise the money needed from investors who appreciated the value of developing treatments for untreated rare disorders. And so, I founded Ultragenyx Pharmaceutical Inc. Ultragenyx stands for ultra rare genetic disorders and is a company uniquely poised to drive the development of many rare disease treatments with a team of experienced and capable staff. By focusing and honing our rare disease development strategies as well as building on the change that is coming in regulation with more sophisticated ways of studying disease treatments, I know that now is the time to drive as many disease treatments forward as I can.
My hope is to develop 10 disease-specific treatments in a 10 year period. Yes it is bold and perhaps even insane, but why not try to do something incredibly important for as many patients and diseases as you can?
I look at each of my positions and transitions over my career as being all part of one and the same thing, the fight to develop treatments for untreated rare disease patients. Whatever the institution, whatever the financial structure, whatever the job title, the key thing is making this happen. Thanks for your support.
No disease is too rare to deserve treatment.
