#NORDSummit – Mitochondrial Disorders Expert Will Be Among Speakers 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

A leading expert on mitochondrial disease will be among more than 80 speakers at this month’s Rare Disease & Orphan Products Breakthrough Summit in Washington.

The two-day event Oct. 16-17 at the Marriott Wardman Park Hotel will be hosted by the nonprofit National Organization for Rare Disorders (NORD). The sixth annual summit is expected to attract 550 to 600 participants.

MaryBeth Hollinger, the mitochondrial disease expert, will participate in a breakout session on “Effective Family Partnerships with the Medical Care Team.” Hollinger, the director of education, support and advocacy at MitoAction, will be joined in the session by Colleen Clarke Muraresku of Children’s Hospital of Philadelphia.

The mission of MitoAction, a Boston-based nonprofit group established in 2005, is to make an impact on the lives of those affected by mitochondrial disease. Hollander coordinates the group’s Mito411 phone line, moderates a weekly teleconference support group, and belongs to the MitoAction Advocacy Task Force. She earned her bachelor’s degree at Boston College and a dual master’s degree in nursing education and pediatric clinical nursing.

Before coming to MitoAction, Hollinger was the research coordinator at the neonatal intensive care unit of Albany Medical Center in Albany, New York.

“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 Mitochondrial Disease 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: 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.

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 also 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 be coming from the National Institutes of Health, led by Dr. Petra Kauffmann, director of clinical innovation at the organization’s National Center for Advancing Translational Studies, and Dr. Carrie Wolinetz, its 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, is a talk by Dr. David Lebwohl, a senior vice president of 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 adult patients with a form of acute lymphoblastic leukemia. The decision made it the first gene therapy available in the United States.

Other company presentations 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. It houses NORD’s first Center of Excellence. The centers are focused 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 that marked 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 a right-to-try debate. It 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 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.”