Researchers conducted a meta-analysis of 4 studies examining prophylaxis with factor VIII or emicizumab for hemophilia A without inhibitors.
Researchers conducted a meta-analysis of 4 studies examining prophylaxis with factor VIII or emicizumab for hemophilia A without inhibitors.

BOSTON, Massachusetts—Since 1954, when the International Association of Fire Fighters (IAFF) decided to partner with the Muscular Dystrophy Association (MDA) in an annual nationwide “Fill the Boot” drive, the 2 organizations have jointly raised $225 million for research in Duchenne muscular dystrophy (DMD) and have funded 175 specific projects.

Recently, the MDA singled out 2 top researchers for their lifetime contributions toward understanding DMD, a fatal neuromuscular disease that affects 1 in every 3500 male births. The MDA Tribute Awards, held at Boston’s Westin Copley Place, honored Louis Kunkel, PhD, of Boston Children’s Hospital, and Brenda Wong, MD, director of the MDA Care Center at the University of Massachusetts (UMass) Chan Medical School in Worcester.

Also recognized during the October 27, 2022, reception: Tom Graney, whose family was the inspiration for the firefighters’ “Fill the Boot” program, and former anchor Natalie Jacobson of Boston’s WCVB-TV.

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Now in its 68th year, the campaign originated in 1952 when Charlie Crowley—a resident of the Boston suburb of Dorchester—approached firefighter George Graney of IAFF Local 718 and told him about his disabled sons, who had been diagnosed with DMD and needed wheelchairs. Craney and 20 of his buddies took to the streets with cans, raising $5,000—a huge sum back in those days—to provide for Crowley’s children. 

Public service advertisement for the Muscular Dystrophy Association (MDA), circa 1950s. (Photo courtesy of MDA)

Two years later, at IAFF’s 1954 convention in Miami, Florida, Graney urged the national group to join the effort. The motion passed unanimously, and the group soon began raising millions every year for the annual Labor Day Jerry Lewis MDA Telethon.

“I am a Boston native, growing up in the town where Fill the Boot was born, thanks to the Graney family and have many fond memories of Natalie Jacobson anchoring the local news sharing stories and raising awareness of the MDA’s mission on WCVB-TV,” said the charity’s chief of staff, Kristine Welker. “Who would have ever thought the legacy of both Dr. Brenda Wong and Dr. Louis Kunkel would have such a meaningful impact on me as the mother of a child living with a form of Duchenne?”

‘Champions of the Neuromuscular Community’

Jacobson, who hosted the MDA Telethon for years, became the first female anchor of a Boston evening newscast on Channel 5 WCVB, and during her 35-year tenure there, she covered local and global news events. In her May 2022 memoir, Every Life a Story: Natalie Jacobson Reporting, she detailed her work in support of the neuromuscular community.

Dr. Kunkel, a genetics and pediatrics professor at Boston Children’s and Harvard Medical School, is universally recognized for having identified dystrophin as the causative gene in DMD. His work has led to better diagnosis and therapy approaches for DMD and he has received numerous awards for his research, including membership in the National Academy of Sciences and the American Academy of Arts and Sciences. 

“I have devoted my career to understanding the molecular basis for different forms of muscular dystrophy and working to develop new therapies,” Kunkel said in a press statement, adding that he’s grateful for the support MDA has given him for the past 37 years, during which time his lab has used mouse and zebrafish models to help develop therapies for DMD and other disorders.

In the last 5 years alone, MDA has funded more than $11 million in Duchenne research grants.

Brenda Wong, MD, of the University of Massachusetts Chan Medical Center, was honored October 27, 2022, by the Muscular Dystrophy Association (MDA) for her work with Duchenne patients. (Photo courtesy of MDA)

Dr. Wong, a native of Singapore, is founding director of the Duchenne Muscular Dystrophy Center at UMass Chan. She relocated to Worcester—a 45-minute drive west of Boston—in May 2018 from Ohio, where since 1999 she had worked at Cincinnati Children’s Medical Center, becoming the director of MDA’s pediatric neurology clinic there in 2005. Besides Duchenne, she also treated kids with spinal muscular atrophy (SMA), Charcot-Marie-Tooth disease, and other rare diseases.

“It was there in the early 2000s that we saw the need for setting up such an interdisciplinary clinic where we would play the role of their quarterback in order to help them connect the dots, provide holistic care, and treat the patient with Duchenne’s, Becker’s, and neuromuscular disorders, rather than treat the diseases itself,” she told Rare Disease Advisor in an interview.

“That brought about a huge demand from families. In 2005, we brought the first out‑of‑state patients,” Dr. Wong added. “That really grew rapidly in 3 years. That was when we realized that families were thirsting for such a care model.”

In 2020, the Duchenne expert published an article in the journal Neuromuscular Disorders about her center’s Integrated Practice Unit model. She has also written extensively on DMD.

Optimism for the Future of Patients With DMD

In her current capacity at UMass, Dr. Wong supervises a physical therapist, an occupational therapist, and 3 clinical research coordinators. Together, the team has about 400 boys and young men with Duchenne under its care, and they come from all over New England, as well as elsewhere throughout the Northeast and other states and countries.

Dr. Wong’s clinic is involved in a number of clinical trials for Duchenne, including those by FibroGen, Capricor Therapeutics, Pfizer, Dyne Therapeutics, and Sarepta Therapeutics.

“We also engage in our own clinical outcomes with our real‑world data,” she said. “That means we have our own clinic registry for which we collect our clinical data from each visit.”

Dr. Wong said she’s hopeful that 2023 could bring good news, specifically on Sarepta’s trials underway involving gene therapy for DMD. Meanwhile, she’s seen the life expectancy of young men with Duchenne increase significantly since she started treating boys with the disease.

“For those families who are very adherent to care plans and with this era of steroids, [despite] the previous data that says survival to the 20s, we are seeing ourselves pushing that limit. Now, I would say at least the 30s. I have several 30‑year‑olds; one is now 38,” she said. “That data has to be rewritten for the internet because the boys get really discouraged when they hit their 20s and they think that they’ve only got a few years left.”