Pardon the unorthodox use of this month’s space, which is doing double duty so I can cover and comment on the 2019 Cure SMA [spinal muscular atrophy] conference in Anaheim, Calif., at the end of June.
This combined meeting — one track for families, a second for researchers — is one of my favorite events. The kids are incredibly cute and smart; their families are open, welcoming and generous. The sense of “We’re all in this together” is so strong that many families who lost their own children to SMA years ago continue to raise funds to help families living with SMA now.
This year, I was especially excited to attend because Zolgensma, a genetic treatment given once in a lifetime, had been approved by the U.S. Food & Drug Administration (FDA) the month before. For the first time, two treatments (the other drug being Spinraza) were available for the genetic condition that’s the number-one cause of infant death around the world.
The tone of the meeting felt jubilant. Spinraza and Zolgensma are new, and the latter in particular is currently available to a limited group of patients. Funding for the treatments is challenging. Still, early results of both drugs have been so promising. How could you not feel hopeful?
Richard Rubenstein, Cure SMA’s board chair, addressed attendees in the June 29 opening session at the Disneyland Hotel. As he spoke, his son Max beamed from a projected photo behind him.
“This year,” Rubenstein said, “is very much about success and accomplishments.”
When Max was diagnosed, his parents were told their son had six months to live. Max passed away three years later.
Citing the new treatments, Rubenstein said, “No parent will ever have that message delivered to them about SMA. The diagnosis will not come with that level of hopelessness.”
With a moment of silence, Kenneth Hobby, Cure SMA’s President, recognized the contributions of families whose children were born with SMA before treatments were available. He thanked members for “raising funds when they knew it wouldn’t be for their own families. Who did clinical trials knowing it wouldn’t be in time for them. And who took the placebos.”
Hobby also recognized the FDA, “because they’ve bought into the SMA community. The FDA goes above and beyond for SMA.”
Not the SMA We’ve Known
Hobby acknowledged that these treatments are rewriting what the healthcare community knows about SMA. “It’s not going to be the SMA we’ve known in the past,” he said. “In some ways, SMA is going to be new. New issues are going to be created.”
For example, Hobby said, the effects of SMA might get milder, but new symptoms could appear. He referenced “the new choices people are going to have to make,” including choosing which treatments to try, in what order, simultaneously or consecutively.
Rubenstein acknowledged that when Max died, “It was the darkest time in our lives.” But upon attending the conference, “We were met with the kindness and compassion of this community. We’re going to see more changes. We’re going to have a group of people showing symptoms and a group of people who aren’t showing symptoms. We accept all parents in this community. Everyone is included here.”
Indeed, Hobby acknowledged the need for this tight-knit group to continue to work together.
“The values we have had as a community are not going to change,” he said. “If we’re talking with one voice, we’re powerful together, because of the strength of this community.”
In addition to continuing to fund research and new treatments — by the 2020 conference in Orlando, Fla., in June, Cure SMA expects a third drug treatment to be available — Hobby said the organization will focus on supporting people with SMA and their families.
He cited greater customization of programs to assure the organization provides plenty of support to teens and adults with SMA. Cure SMA sends care packages of helpful products to families of newly diagnosed infants and children; in the future, the organization will also send packages to teens and adults. Summits of Strength — one-day events nationwide — will provide local education and support for people who cannot attend the annual conference.
Cure SMA is building a registry to collect data on drug treatment results, and is focusing on educating healthcare professionals across the country on what SMA is and what treatment options are available. Future research will focus on treating SMA symptoms, such as muscle involvement.
Amidst the meeting’s triumphant mood, Hobby told attendees, “We’re not done yet. We don’t have a cure.”
Editor’s Note: After this story published, the FDA announced that AveXis, the manufacturer of Zolgensma, admitted that Zolgensma data related to animal studies had been “manipulated.” In its Aug. 6 announcement, the FDA said it was keeping Zolgensma on the market because it was confident in its “positive assessment” of the drug related to human clinical trials.
