#NORDSummit – Angelman Syndrome on Agenda at NORD’s Rare Disease Summit

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by Larry Luxner |

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Two experts on Angelman syndrome will be among 80 speakers at this month’s Rare Disease & Orphan Products Breakthrough Summit in Washington.

The two-day event, now in its sixth year, is hosted by the nonprofit National Organization for Rare Disorders (NORD). It is expected to attract 550 to 600 participants to the Marriott Wardman Park Hotel, Oct. 16-17.

Terry Jo Bichell, director of the Nashville-based Angelman Biomarkers and Outcome Measures Alliance, will lead a discussion on patient organizations’ role in advocating for drug approvals. In addition, Danielle Pinders, events coordinator of the Chicago-based Foundation for Angelman Syndrome Therapeutics, will participate in a breakout session on fundraising strategies for rare disease organizations.

“One of the most wonderful things about this conference — and the thing that makes it unique — is the fact that it brings together the entire rare disease community,” Mary Dunkle, NORD’s vice president of educational initiatives, told Angelman Syndrome News in a phone interview. “Roughly one-third of our participants represent patient organizations. Some of these are very well-established, have existed for many years and have a high degree of sophistication about the research process.”

But others, she said, “are brand-new organizations, and this will be the first time their representatives have come to a major conference of this type. Many of these are kitchen-table groups run entirely by volunteers.”

Among the topics on this year’s agenda are soaring healthcare costs, patient assistance programs, orphan drug development, and controversial right-to-try legislation. Some lawmakers at the state level have introduced such legislation to allow patients to try drugs before the Food and Drug Administration has approved them.

Of the nearly 600 people who attended last year’s NORD summit, 32 percent represented advocacy or patient groups. The conference also attracted consultants (23 percent of the total), pharmaceutical executives (23 percent); government officials (13 percent); journalists (5 percent), scientists and researchers (3 percent), and investors (1 percent).

Dunkle, who’s been with NORD since 1999, said this year’s speakers include Dr. Scott Gottlieb, the new commissioner of the FDA, and Dr. Janet Woodcock, director of the agency’s Center for Drug Evaluation and Research.

Several speakers will also be coming from the National Institutes of Health, led by Dr. Petra Kauffmann, director of clinical innovation at the NIH’s National Center for Advancing Translational Studies, and Dr. Carrie Wolinetz, the agency’s associate director for science policy.

“This is a really great opportunity for the patient organizations to learn what these agencies do, and how they can interact with them,” Dunkle said. She added that she’s especially interested in hearing what Gottlieb — who became head of the FDA this year — has to say.

“Everybody’s looking forward to Dr. Gottlieb’s presentation,” she said. “He’s really hit the ground running. He’s shown great leadership and an interest in addressing issues and challenges, and, I think, a great interest in the needs of the rare-disease community.”

Another highlight of the NORD summit, she said, will be a talk by Dr. David Lebwohl, a senior vice president of Novartis, on the promise of gene therapy. His speech will come a little over a month after the FDA’s historic approval of Kymriah (tisagenlecleucel) to treat children nd young adults with a form of acute lymphoblastic leukemia — making it the first gene therapy available in the United States.

Other company presentations will include one on advances in genetic testing by Dr. Robert Nussbaum, chief medical officer of Invitae, and a roundtable discussion on patient access programs led by Jenica Stroock, director of corporate responsibility at Pfizer.

Lending an international perspective to the conference will be a planned talk by Matthieu Boudes, operations and projects manager at the Paris-based European Organisation for Rare Diseases (Eurordis). In addition, a Chinese scientist working in Hong Kong will present her poster, “The Unbearable Weight of Being Rare: Results from the First National Survey Among People Living with Rare Diseases in China.” And Dr. Ramaiah Muthyala of the University of Minnesota will discuss the current state of rare diseases in India.

Also in the lineup will be a talk by Dr. Marshall Summar, director of the Children’s National Rare Disease Institute in Washington. The institute houses NORD’s first Center of Excellence. The centers will be focusing exclusively on advancing the care and treatment of people with one of the world’s 7,000 or so rare genetic diseases.

“One of the chief challenges of 21st-century pediatric medicine is our continued inability to provide more help to children born with rare genetic diseases,” Summar said in a press release marking the center’s inauguration in January 2017. “Collectively, these conditions impact one out of every 10 Americans and account for up to 40 percent of pediatric medical expenses.”

A controversial subject on the NORD agenda will be the  right-to-try debate. That’ll be the focus of a panel moderated by Kate Rawson, contributing editor at Provision Policy.

“Some states are introducing right-to-try legislation, which has to do with giving patients access to therapies that are not yet approved,” Dunkle explained. “NORD generally does not support such legislation, because we feel it kind of cuts the FDA out of the process, and the FDA does have a program we feel works pretty well in giving people access to investigational therapies.”