Reflections on Rare Disease Day

The rare disease advocacy community convened yesterday for its annual Rare Disease Day celebration, marking another year of advances in the fight against ailments once almost entirely ignored by big Pharma. The fact that hundreds of rare diseases are finally attracting real attention from major researchers, not to mention big dollars, is attributable not only to rich government incentives but also to the persistence and drive of advocacy organizations whose commitment can mean – literally – the difference between life and death for patients. Pharm Exec spoke a few days ago to Peter Saltonstall, CEO of the National Organization for Rare Diseases [NORD], the biggest such group, to gauge its assessment of where the movement is heading in an era of growing fiscal pressures on drug spending.

PE: How is the disease community inspired by NORD industry working thus far? What have you accomplished?

NORD: Our collective partnership approach has been very successful and we look forward to more progress in the future. Among the achievements that we can cite to date: Connecting patients & patient organizations: We created a platform for online disease-specific communities. NORD and our European partner, EURORDIS, host these with disease-specific patient organizations in the U.S. and Europe. Posts can be translated into any of 5 languages. There are currently 36 communities interacting with each other. The platform is viewable at www.RareConnect.org.

Promoting global awareness and education through Rare Disease Day: EURORDIS launched Rare Disease Day in 2008 and sponsors this initiative globally. NORD is the national sponsor in the U.S. and we co-promote the day’s activities and related events with EURORDIS.

Position papers/white papers: We have co-authored position papers such as a recent one issued jointly by NORD, EURORDIS and CORD (the Canadian Organization for Rare Disorders) on basic requirements for patient registries, which are being used more extensively to help policy-makers track outcomes.

We have encouraged a more seamless working relationship between FDA and EMA in the area of rare diseases, which has a solid carryover effect in improving the medicines approval process to speed access to our patients.

Finally, we have invited companies that are members of NORD’s Corporate Council to join the EURORDIS Round Table of Companies and EURORDIS has encouraged its Round Table members to join NORD’s Corporate Council. This gives our advocacy with a private sector an integrated global approach.

PE: What challenges have NORD and EURORDIS found in their relations with biotech and pharmaceutical companies? What can be improved upon?

NORD: We face many of the same issues, and I believe that we can achieve more by collaborating and talking. We are always conscious that patient organizations need to maintain a position of independence in their advocacy positions. But companies and patient organizations on both sides of the Atlantic want to work together in appropriate ways. It’s just a matter of defining the terms of the relationships and maintaining appropriate transparency. We have to keep working on that.

PE: What do governments need to do in order to be more in sync with the collaboration going on between EURORDIS and NORD as well as other partnerships with international rare disease organizations?

NORD: Government agencies are focusing more attention on rare diseases and orphan products than ever before. This is because we are transitioning to an era of more personalized medicine, and toward a better understanding of the underlying basis of disease. We hear repeatedly from government agencies that we all have the same goal - to improve the lives and health of people with rare diseases – and we can accomplish more by working together. We want to build on these relationships and forge common understanding and goals.

PE: What sort of policy initiatives could help advance these partnerships? Does this come in the form of regulatory harmonization to ensure broader market access? Does it come in the form of giving patient groups more access to research initiatives taking place?

NORD: Certainly we encourage government agencies to talk with each other and share data and perspectives. The patient voice is very important. We have worked to help fashion at the US Food and Drug Administration (FDA) a program to create systems to strengthen the patient voice as a required interlocutor in the drug development and approval process, and we have made enormous strides. The US Congress last year endorsed that goal. We believe that the patient voice in the regulatory process is getting stronger and that it will continue well into the future.

PE: What can your two organizations do to speed up market access? For example, conducting international scale clinical trials?

NORD: We support any efforts to speed market approvals for new products and to assure patient access to them. Our contribution from the patient perspective is to identify and codify patient information that will lead to a better understanding of diseases and their natural histories, and to bring patients together more quickly so that clinical trial recruitment can be sped up. Most clinical trials these days are international in scope and of course we support more expansive trials when possible. Diseases do not have geographic boundaries.

PE: How has social media transformed the landscape of rare disease? What do you hope to accomplish in effectively wielding this new medium?

NORD: Social media is a tool that is just now being tapped. Both of our organizations encourage patients to use social media to communicate with each other and to share experiences and information. RareConnect is just one example of social media efforts. We hope to encourage more.

PE: Is there a concerted effort to expand this partnership beyond into a worldwide partnership/community? Or is that taking its time?

NORD: NORD just signed an agreement with the Japanese patient community to collaborate more formally. We will look for further opportunities to bring the international patient community together. Rare Disease Day, always the last day in February, at which time we celebrate the progress made by the rare disease community, has become an international event.

PE: As work on rare diseases moves forward, does NORD see the definition of rare diseases changing or shifting to accommodate currently excluded patient constituencies?

NORD: We are not aware of anyone in the rare disease community who believes their disease is being excluding from our work. We do wish to make the definition of rare disease as inclusive and wide-ranging as possible. All of our activities strive for that objective.

To learn more about NORD and its initiatives, visit their website: http://www.rarediseases.org/