Thirty-three years ago, doctors told Pat Furlong that her two sons, Christopher and Patrick, had Duchenne muscular dystrophy (DMD). Ten years later, the Ohio nurse — along with other fathers and mothers of Duchenne boys — founded Parent Project Muscular Dystrophy (PPMD) to raise money for Duchenne research and ultimately to find a cure for the genetic disease.
Christopher and Patrick died in their teen years, but Furlong, who also has two daughters, went on to become the nation’s top advocate for Duchenne research. Since its establishment in 1994, PPMD — under Furlong’s leadership — says it has invested more than $45 million in Duchenne research, spawning at least $500 million in additional funding.
Ryan Fischer, PPMD’s senior vice president for community engagement, told Muscular Dystrophy News that each year, the New Jersey-based nonprofit uses Rare Disease Day, celebrated on the last day of February, to raise awareness about Duchenne via social media, press releases and speaking events on Capitol Hill.
“Our goal is to improve the lives and long-term outlook of all those impacted by Duchenne. We do this by exploring gaps that exist in research,” he said in an email interview. “We are funding cutting-edge research in gene therapy and CRISPR, we continue to advocate in Washington for federal investment and focus in Duchenne, and are poised to see the next update to the CDC’s care standards this year which expands into caring for adults with Duchenne.”
Prior to PPMD’s founding, not a single company was doing research in DMD, a genetic condition that occurs in one out of 3,500 births worldwide and affects about 15,000 American boys and young men. Today, said Fischer, more than 40 companies are involved.
In the late 1990s, “we met with members of Congress and others in the muscular dystrophy space like MDA [Muscular Dystrophy Association] and FED [Foundation to Eradicate Duchenne], and worked to get the MD-CARE Act passed and signed into law in 2001,” he said. “The basic research done prior to the MD-CARE Act seeded a much more robust NIH investment and led to private investment by drug companies.”
The group remains committed to helping guide “the full arc of drug development, from discovery on through delivery,” Fischer said, and encouraging multiple treatment targets — from underlying causes to effects ranging from inflammation and fibrosis, and changes in blood flow, cardiac and pulmonary health, and muscle mass — because the disease’s impact is so wide and varied.
“It will ultimately take a combination of therapies, a cocktail approach to treat Duchenne,” he said, “so all efforts are critical. We need as many shots on goal as possible.”
While grateful for research efforts, PPMD recently expressed alarm at the $89,000-a-year list price of Marathon Pharmaceuticals’ Emflaza (deflazacort), a corticosteroid that slows decline in muscle strength in Duchenne boys by reducing inflammation and suppressing the immune system.
The company temporarily paused sales of the corticosteroid on Feb. 13 — just days after the U.S. Food and Drug Administration approved its use to treat DMD — amid criticism of that launch price. Access to deflazacort will continue until Marathon, through ongoing talks with PPMD and others, decide on a possibly revised price for Emflaza.
“This approval has certainly stirred up a great deal of emotions on all sides,” Fischer said. “I think the majority of community members would agree, approval of deflazacort (Emflaza) is a good thing — we want options for patients so they can make the best decision possible with their physicians.”
But, he added, “I think many in the community, including PPMD, were surprised by the announced price point, considering the cost to patients importing it from overseas was significantly lower. … we want drug companies investing in Duchenne so there needs to be a balance, with the company making a profit and patients not paying too much out of pocket.”
On a broader front, PPMD is urging the Trump administration and Congress not to be hasty in repealing the Affordable Care Act, also known as Obamacare. On Feb. 14, the organization held an “action day” in Washington, urging both Republicans and Democrats to keep the healthcare policy in place until passage of an equivalent or better plan — one that ensures access to coverage for people with Duchenne and other rare diseases.
“While not perfect, the Affordable Care Act included many reforms aimed at ending discrimination within the health insurance industry against communities such as those with Duchenne,” said Fischer.
Among PPMD’s priorities in any reform: ensuring affordable and predictable out-of-pocket costs, eliminating annual and lifetime benefit caps, and maintaining the ability for dependents to remain on their guardians’ health insurance through age 26.
“PPMD will be working … to ensure such protections are retained during this very fluid time,” he said. “Congress was very receptive to our messages on the Hill, and we are encouraging all advocates to continue reaching out to those who represent them in Washington.”
Fischer also spoke in support of the Orphan Drug Act, a 1983 law passed to facilitate research and development into treatments for diseases affecting fewer than 200,000 Americans. The act was recently criticized in a widely reported study for its potential damaging impact on drug prices.
The act “revolutionized the rare disease space and remains the foundation of progress in rare disease drug development,” Fischer said, adding that “[i]ncentivizing pharmaceutical companies to develop therapies to treat — and ultimately cure — rare disease is necessary.”
Parent Project members and other stakeholders are now studying pricing models used in setting a new treatment’s human and market value. “Only then,” Fischer said, “will we have a fuller understanding of ‘value’ and know whether the products being developed are truly meeting the needs of the patients for whom they were intended.”
Looking ahead, Fischer said, PPMD is quite hopeful. “We are proud that patients are living longer, stronger lives with better care interventions and, for some, therapeutic options. While there is much work left to be done and the urgency remains, we are optimistic about the future. We have an incredible community of families, foundations, scientists, researchers, clinicians, and companies working day and night to change the Duchenne landscape.”