Rare Disease Day: Spotlight on Solidarity

February 28, 2012

Pharmaceutical Executive

Patients, policymakers and pharmaceutical companies are uniting around rare diseases on the rarest of calendar days, presaging a leap forward in health outcomes and business opportunities.

Patients, policymakers and pharmaceutical companies are uniting around rare diseases on the rarest of calendar days, presaging a leap forward in health outcomes and business opportunities.


Aligning humanistic objectives with business incentives is often the sine qua non of effective community activism. This year’s Rare Disease Day – hosted in the US by the National Organization for Rare Disorders (NORD) – attempts to do just that. Some 630 patient organizations, government agencies, research centers and corporations have signed up to be Rare Disease Day Partners this year, and both the NIH and the FDA are serving as venues for events on February 29 and March 1, respectively, under the banner of solidarity.

A symposium for patients and researchers at the NIH will “focus on things that are really new and cutting edge in rare disease research,” says David Eckstein, senior health scientist administrator at NIH’s Office of Rare Disease Research. Topics include the utilization of stem cells and next-generation gene sequencing, and what that will mean for rare disease research. “We’ll also be talking about new research paradigms,” says Eckstein. “People have always talked about ‘bench to bedside,’ but it’s really bench to bedside and back; there’s a lot of information that flows from what’s learned in the clinic, back to the laboratory.” Topics will be targeted to a lay audience, to encourage patients and their families to attend.

During an extended lunch period, NIH hopes attendees will visit table exhibits and posters, and to interact with researchers and pharmaceutical companies. “We’ve opened up the ability of all these patient groups to advertise their existence and make others aware of who they are and what they’re doing,” says Eckstein. For the NIH Rare Disease Day agenda, click here (events and presentations will be streamed live here).

FDA, for its part, is hosting a Patient Advocacy Day on March 1. Dr. Gayatri Rao, acting director for the Office of Orphan Products Development (OOPD) at FDA, emphasizes the importance of collaboration – and solidarity – across stakeholder groups, as a means to solve the challenges posed by rare diseases. “Patient Advocacy Day will bring together patients and the different centers and offices within FDA that regulate products for rare diseases…with the goals of engaging the patient community, increasing awareness about translating research into therapies, and providing education on the roles and responsibilities of the FDA in the development process,” says Rao. For the FDA agenda, click here.

Outside of Washington DC, a slew of research institutions, community centers, local government groups and pharmaceutical companies are hosting their own events, from wine-tastings, film screenings and a marshmallow roast, to marathons, concerts and a virtual “Handprints on the Hill” campaign, sponsored by NORD, that will encourage participants to sign a letter to President Obama and members of Congress that supports rare disease awareness. To bring attention to specific cases of rare disease, every signatory can personalize the letter. In Europe, where Rare Disease Day originated in 2008, the European Organization for Rare Diseases (EURORDIS) will host and facilitate numerous events across many countries.

Pharmaceutical companies like Genzyme, Lundbeck and Biomarin have planned special events around Rare Disease Day. Mary Dunkle, NORD’s VP of communications, points to Genzyme’s “mini-marathon” scheduled for February 29. “Genzyme has a team of employees who run the Boston Marathon every year, to raise money to donate to NORD on behalf of all rare disease patients,” says Dunkle. “This year, they’re doing a mini-marathon…they’re going to be running some very significant distances at four different Genzyme facilities, and each facility will host a small program.” NORD will be on hand to distribute literature, and to speak on the Rare Disease Day theme of solidarity.

The “Raise Your Hand to Fight Rare Diseases” campaign, happening for the third year in a row, asks interested parties to visit NORD’s website and “Raise Your Hand” by clicking on an icon. For every click, Lundbeck Worldwide, the underwriter of the campaign, will donate $1 (up to $10,000) to NORD’s general research fund. Last year’s $10,000 donation went toward a research grant for systemic sclerosis, a rare autoimmune disorder affecting an estimated 49,000 people in the U.S. Silvia Laura Bosello is leading the study on systemic sclerosis, which is aimed at improving the identification of abnormal B-cells and administering medications that are known to positively affect the production of B-cells. Siren Interactive, a marketing firm specializing in rare diseases, is asking a network of clients, colleagues and friends to visit crumblymorsels.com and build a cookie to share online. For every cookie shared through Facebook, Twitter, Linkedin or Google+, Siren will donate $1 (up to $1,000) to EURORDIS and NORD.

Increases in the number and activity level of patient organizations in recent years have helped to spotlight the business opportunities for pharmaceutical companies. “I spoke with PhRMA recently, and they said that there are now about 460 rare diseases being worked on by the collective membership of PhRMA, which is the biggest number they’d had, ever,” says Peter Saltonstall, NORD’s president. “More and more of the large companies who have never been in the rare disease space are now making a commitment.” Eckstein says pharma has become more interested in creating niche areas for business. Quite a few [pharmaceutical companies] are realizing that it can be profitable to get into the rare disease market,” says Eckstein. “We’re doing as much as we can to encourage that, and to encourage patient groups to work with pharma, to ensure that clinical trials are well-enrolled, so that trials can be done quickly, which saves everybody money and gets things through the FDA faster.”

The Rare Disease Day theme of solidarity this year speaks to the importance – and benefits – of collaboration between patients and pharma. “If you take all of those rare diseases and total up all of the populations, there are about 30 million Americans that are affected by rare diseases,” says Craig Kephart, president of Centric Health Resources, a direct-distribution company focused on specialty pharma and orphan diseases. “By joining together these 30 million Americans, they make up a large group of people that need to be heard. We need to address effective and meaningful ways of helping them lead better lives.”