#NORDSummit – Rare Disease Summit to Address Issues Crucial to Duchenne Community

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by Larry Luxner |

NORD summit

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

Orphan drug development, rising healthcare costs, patient assistance programs and controversial right-to-try legislation are of paramount interest to the parents and caregivers of boys with Duchenne muscular dystrophy (DMD).

“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,” Dr. Marshall Summar, director of the Children’s National Rare Disease Institute in Washington, said in a press release this year marking the inauguration of his institute’s first Center of Excellence. “Collectively, these conditions impact one out of every 10 Americans and account for up to 40 percent of pediatric medical expenses.”

Summar will be one of 80 speakers at next week’s Rare Disease & Orphan Products Breakthrough Summitin Washington. It will be Oct. 16-17 at the Marriott Wardman Park Hotel.

The 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.

“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 Muscular Dystrophy 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.”

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 U.S. Food and Drug Administration, 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,” Dunkle 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.”

While no specific talk during the event addresses muscular dystrophy, many touch on issues of concern to  families with Duchenne MD — a disease that affects about 5,000 boys and young men in the United States and an estimated 300,000 worldwide.

There is no cure for Duchenne, and treatments that address its symptoms are among the most expensive in the world.

Exondys 51 (eteplirsen) can cost more than $1 million a year. Sarepta Therapeutics makes the injectable therapy for the relative handful of patients with a mutation of the DMD gene that can be corrected with exon 51 skipping.

Exons are sections of a gene’s DNA that code for the proteins the gene produces. With DMD, some exons are missing, preventing production of the dystrophin protein that is vital to muscle health. Exondys 51 is designed to overcome the problem.

Another Duchenne MD therapy is Emflaza (deflazacort), which can cost $35,000 a year. PTC Therapeutics’ corticosteroid works by decreasing inflammation and reducing immune system damage to healthy tissue. Emflaza’s price of about $3,000 a month is more than most families can afford without insurance or other assistance.

A panel, “The Challenge of Healthcare Costs & Treatment Prices,” will address this issue in Duchenne and other diseases.

Moderated by Steve Usdin, Washington editor of BioCentury, its panelists will include Anne McDonald Pritchett, senior vice president of policy and research at the Pharmaceutical Research & Manufacturers Association of America; Bill Martin, vice president of pharma strategy and account management at Express Scripts; and James Geraghty, entrepreneur in residence at Third Rock Ventures.

Another highlight of the NORD summit 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 of Invitae, and a roundtable discussion on patient access programs led by Jenica Stroock, director of corporate responsibility at Pfizer. Therapy makers create access programs to help patients of modest means or limited insurance obtain treatments they need.

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.

A controversial subject on the NORD agenda will be the right-to-try debate. A number of American states have introduced legislation that would allow patients to try therapies that the FDA has yet to approve. The issue will be the focus of a panel at the convention 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.”