Parents and caregivers of patients with spinal muscular atrophy (SMA) take great interest in orphan drug development, soaring healthcare costs, patient assistance programs and controversial “right-to-try” legislation — all issues on the agenda during the upcoming Rare Disease & Orphan Products Breakthrough Summit.
“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, D.C., said in a press release earlier this year to mark the inauguration of his institute’s 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 confirmed speakers at the summit, set to take place Oct. 16–17 at Washington’s Marriott Wardman Park Hotel. The event, now in its sixth year, is hosted by the nonprofit National Organization for Rare Disorders (NORD).
Some 550 to 600 participants are likely to attend, said Mary Dunkle, NORD’s vice president of educational initiatives.
“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,” Dunkle told SMA News Today 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% of the total), pharmaceutical executives (23%), government officials (13%), journalists (5%), scientists and researchers (3%), and investors (1%).
While no specific talk during the event addresses SMA, many touch on issues that directly affect the families of those with the disease — the top genetic cause of death among infants in the United States. SMA strikes about one in 11,000 babies, and roughly 1 in every 50 Americans is a genetic carrier, according to the Chicago-based nonprofit organization CureSMA.
Yet drugs to treat SMA — an actual cure does not yet exist — are among the most expensive in the world.
Spinraza (nusinersen) won FDA approval in December 2016 as the first disease-modifying treatment for all forms of SMA. Manufactured by Biogen, it has shown highly promising results in clinical trials in young children, but carries a high price tag. Treatment costs an average $750,000 for the first year and $375,000 for every year after that.
A panel, “The Challenge of Healthcare Costs & Treatment Prices,” will address this issue. Moderated by Steve Usdin, Washington editor of BioCentury, its panelists 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, Dunkle said, is a talk by Dr. David Lebwohl, a senior vice president at Novartis, on the promise of gene therapy. His speech comes just over a month after the FDA’s historic approval of Kymriah (tisagenlecleucel) to treat certain pediatric and young adult patients with a form of acute lymphoblastic leukemia — making it the first gene therapy available in the country.
Another controversial subject on the NORD agenda will be the debate over so-called “right-to-try” issues. It’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 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.”
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 earlier this year — has to say.
“Everybody’s looking forward to Dr. Gottlieb’s presentation,” said Dunkle. “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.”
Other corporate 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 is 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 speak on the current state of rare diseases in India.
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