Greater collaboration is key to improving patient outcomes

Advocates Highlight Opportunities For Combatting Rare Diseases: Greater Collaboration Key to Improving Patient Outcomes

10.21.13 | By John Castellani

More than 30 million Americans suffer from rare diseases – conditions that are classified as such because they affect fewer than 200,000 people in the United States. Fortunately, there are more than 450 new medications in the pipeline to treat these conditions, and one-third of all new drug approvals over the last five years have been for medicines specific to rare diseases. Despite recent successes, there is much more to be done in developing treatments for rare disease patients.

On Thursday, October 17, PhRMA hosted a Twitter chat session that brought together thought leaders from the biopharmaceutical and rare disease communities to discuss the development of medicines for rare diseases. Prior to the discussion, we wanted to enlist the help of some within this community to help set the agenda by asking the following question inthe Conversations forum:

What are the shared priorities and interests of the diverse rare disease community that should be discussed in the Tweetchat?

One common theme seen in some of the responses is the need for greater collaboration between patient advocacy groups. Andrew Milmore of Uplifting Athletes, a national non-profit of football student-athletes that raises awareness of rare diseases, states that, “Scores of organizations exists solely for rare diseases but because of the lack of a cohesive voice they are often isolated and falter, mimicking the fate that millions of patients experience with their own fights against rare diseases.”

Sharon Terry, CEO of Genetic Alliance and PXE International, echoes Andrew’s point, writing that the current “silo” structure of many rare disease advocacy groups may hinder possible advances. Sharon advocates for the rare disease community to build a shared infrastructure to help improve the success of all causes.

Greater collaboration on research and development is also necessary. Cathy Collet, an ALS advocate, suggests that research and development for treatments of rare diseases opens the possibility of discovering new concepts for drug testing that could bring benefits to other diseases. Beth McGinn, the mother of a young child with Leukodystrophy, conveyed the importance of rare diseases “piggy-backing” on other conditions. While there were fewer than 100 cases of Leukodystrophy when her child was diagnosed, the disease is similar to Multiple Sclerosis and Parkinson’s and breakthroughs in treating either of those conditions could lead to a treatment or cure for Leukodystrophy as well. And, as Peter Saltonstall, President and CEO of NORD, explains, some of the most exciting drug approvals announced during the last several years came about thanks to successful collaboration between patient groups and researchers. More and more, patients are playing a crucial role as active partners in some of the most successful studies, and this trend is a welcome opportunity for active and passionate rare disease advocates, according to Julie Flygare, a narcolepsy advocate and blogger.

We also heard what is working well with existing regulations – and what isn’t. Melissa Hogan, a patient advocate and mother of a son with Hunter Syndrome  touches on the importance of preserving the Orphan Drug Act infrastructure. Melissa also stresses the need for biopharmaceutical companies, patients and advocacy organizations to work together to make the drug development and clinical trial processes as efficient and effective as possible. Durhane Wong-Rieger, President of the Canadian Organization for Rare Disorders, also notes the value of the Orphan Drug Act and discusses the challenge for rare disease patients in Canada and other countries to access newly-approved therapies.

The responses and comments we received for this question were incredibly helpful in building a discussion framework for the #RarePOV Tweetchat, which was hosted by PhRMA’s own Stephanie Fischer. The chat session was a tremendous success and generated more than 700 tweets from patients, experts, advocacy groups and other stakeholders. If you weren’t able to participate, be sure to search the #RarePOV hashtag on Twitter to provide thoughts and continue to discussion.

I want to thank all of those who participated in this week’s Conversations discussion and Tweetchat, and we look forward to continuing the conversation on this important topic. 


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