Rare Disease and Orphan Drug Leadership Congress – “No Disease is too Rare to Deserve Treatment”

I was tweeting fast and furiously at the 7th Annual Rare Disease and Orphan Drug Leadership Congress on July 18 and 19 in Philadelphia, and here are some of the insights I captured. Stephanie Okey from Genzyme did an excellent job moderating and set the tone by starting off the conference saying, “No disease is too rare to deserve treatment.”

For me, the highlight of these events is getting to meet rare disease advocates in person, and I captured a few on video. One panel of patient advocates included Dean Suhr of the MLD Foundation and part of Team R.A.R.E. , Kim Ryan of Fight Colorectal Cancer and Jill Panetta, PhD, of the Polycystic Kidney Disease Foundation. The topic was “How to Interact with Advocacy Groups to Facilitate Access.” This was a key theme that resonated throughout the two days: in the orphan drug space, it is essential for pharmaceutical companies to engage with patient advocacy groups. This echoes what we’ve learned at Siren in our more than ten years of working in the space.

Patients are impatiently waiting
The patient advocate panel agreed that it’s essential in the orphan drug space for biopharma companies to proactively communicate with advocates. Ryan noted that the earlier the better that advocacy groups are involved in the clinical trial process. Even in rare diseases a lack of awareness and understanding can be a barrier to clinical trial participation. As a result, advocacy groups are taking a much more active role in supporting clinical trial education.

Dr. Panetta explained that the current patient-led demand for treatment is driven by pipeline transparency, the rise of empowered patients and social media. She said that rare disease patients are closely following the advances in basic research and “patients are impatiently waiting for treatments.”

Focus on the patient
In his presentation Roger Garceau, MD, from NPS Pharma, made it clear that his company takes a patient-centric approach. He declared that when rare disease advocacy groups exist they are very influential and can be a valuable partner for pharmaceutical companies. He noted that access is not just providing drug, but that companies have to provide “burden-free product access.”

Other high points included Emil Kakkis, MD, PhD, presenting the work that he is doing with the EveryLife Foundation for Rare Diseases and Marc Boutin from the National Health Council discussing how the MODDERN (Modernizing Our Drug and Diagnostics Evaluation and Regulatory Networks) Cures Act addresses current barriers. Elizabeth Ottinger, PhD, from the National Institutes of Health, described the progress of the Therapeutics for Rare & Neglected Diseases (TRND) program. Since 2009 there have been 14 projects with two drugs currently in Phase I, as well as one natural history study. She announced that the program will soon be accepting applications for new projects.

I left the conference feeling both inspired and overwhelmed—inspired that great progress is being made and a little overwhelmed by the many challenges ahead.