#NORDSummit – Alport Syndrome on Agenda at NORD’s Oct. 16-17 Rare Disease Summit

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by Larry Luxner |

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The Capitol, Washington, D.C. Photo: Larry Luxner

An Alport syndrome expert will be among more than 80 speakers at this month’s Rare Disease & Orphan Products Breakthrough Summit in Washington.

The two-day event, now in its sixth edition, will be hosted by the nonprofit National Organization for Rare Disorders (NORD). Expected to attract 550 to 600 participants, it will take place Oct. 16-17 at the Marriott Wardman Park Hotel.

Gina Parziale, executive director of the Alport Syndrome Foundation (ASF), and three other panelists will discuss ethical guidelines for patient organizations and industry. The 45-minute panel, moderated by Dr. Arthur Caplan, director of the division of medical ethics at New York University’s Langone Medical Center, will try to answer the question: “How can patient organizations and pharmaceutical companies work together toward shared goals without compromising ethical standards?”

The ASF, based in Scottsdale, Arizona, named Parziale its first full-time professional fundraiser in March. She is no stranger to the rare disease community, working previously for the Pulmonary Hypertension Association, the American Liver Foundation and the Muscular Dystrophy Association.

“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 Alport 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 will be soaring healthcare costs, patient assistance programs, orphan drug development, and controversial right-to-try legislation. These are laws that some states are passing that allow patients to try unapproved drugs.

That legislation will 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 said. “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.”

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, commissioner of the U.S. Food and Drug Administration (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 (NIH), 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, adding 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 at Novartis, on the promise of gene therapy. His speech comes a little over a month after the FDA’s historic approval of Kymriah (tisagenlecleucel) to treat children and 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 at 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 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 speak on the current state of rare diseases in India.

Also in the lineup is 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 focus 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.”


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