I have three sons with Duchenne muscular dystrophy (DMD): Max, 18, Rowen, 15, and Charlie, 13. When Max was young, he met all of his developmental milestones late. He didn’t sit up until he was 11 months old, crawl until after his first birthday, or walk until he was 17 months old. I imagined every milestone would come painstakingly slow. I’m happy to report I was wrong. Max will graduate high school in mere weeks and attend college on a theater scholarship next fall. He’s getting there right on time with his peers. They may have walked sooner, but they’ll all graduate high school together. L ..read more

Diagnostic testing of individuals in India suspected of having limb-girdle muscular dystrophy (LGMD) revealed two novel mutations in the calpain-3 gene, known as CAPN3, that were found to cause the common subtype R1, known as LGMDR1. These findings were detailed in a new study reporting the results of testing in more than 30 people who showed symptoms indicative of LGMD and were specifically evaluated for type R1 disease. According to the researchers, the study’s results could potentially “help in genetic counseling as well as to formulate therapeutic interventions.” The study, “Identificatio ..read more

I had an incident about a month ago that I’ve been thinking about ever since. It’s left me wondering if it’s time for me to begin using a walker, something I tried years ago without much success. The Sunday after my wife, Wendy, had surgery recently, a friend brought me home from church. He dropped me off at our garage, and I made my way to the bathroom. As a blind guy in a wheelchair, I try to avoid having to use public restrooms, so this pit stop was necessary, as my daughter Jill and I were planning to grab lunch on our way to visit Wendy. Exiting the bathroom, I turned left to go back to ..read more

Up to eight years of Exondys 51 treatment (eteplirsen or AVI-4658) extended survival in Duchenne muscular dystrophy (DMD) patients over a wide range of ages, a long-term study concluded. Patients treated for longer periods had the lowest risk of death. The study, “Survival among patients receiving eteplirsen for up to 8 years for the treatment of Duchenne muscular dystrophy and contextualization with natural history controls,” was published in the journal Muscle & Nerve. Exondys 51, developed by Sarepta Therapeutics, is an approved therapy for people with DMD amenable to exon 51 skipping ..read more

I have three sons with Duchenne muscular dystrophy (DMD): Max, 18, Rowen, 15, and Charlie, 13. While caregiving and parenting three young men with Duchenne is full of the challenges and heartaches I often share in this column, they do not outweigh the beautiful moments. Joy and suffering coexist with Duchenne, much as they do apart from DMD. It’s easy to concentrate on the hard parts and want to scream about them so the world might understand what we’re going through. But today, I want to reflect on the beauty so that the world can know about it. Finding the joy The first thing I say to famil ..read more

The U.S. Food and Drug Administration (FDA) has granted rare pediatric disease status to SGT-003, a next-generation gene therapy candidate for Duchenne muscular dystrophy (DMD) developed by Solid Biosciences. The designation is given to therapies with the potential to prevent or treat rare diseases that primarily affect children and adolescents. If it’s approved, Solid may qualify for a priority review voucher when it seeks approval of another experimental treatment. The company may also sell or transfer the voucher. The decision follows the recent orphan drug designation granted to SGT ..read more

ITF Therapeutics — which will be responsible for marketing Duvyzat (givinostat), Italfarmaco’s newly approved Duchenne muscular dystrophy (DMD) therapy, in the U.S — expects the oral medication to be available to eligible adults and children by this fall. For ITF, the U.S.-based rare disease division of Italfarmaco, last month’s approval of Duvyzat by the U.S. Food and Drug Administration (FDA) offers new choices for DMD patients. “We are humbled to serve the DMD community and thrilled for the opportunity to bring a new treatment option forward for this challenging disease,” Matt Trudeau ..read more

My mind is spinning like the wheels on my son’s power wheelchair in the freshly fallen snow. You did not read that wrong, and it’s not a hypothetical. Here in Nebraska, it snowed this last week of March. It feels like a second winter. As if the spring snow isn’t enough, life is going full speed here in the Vertin house. I have three sons — Max, 18, Rowen, 15, and Charlie, 13 — who live with Duchenne muscular dystrophy (DMD). They keep me busy. But I also have four other children: Lexi, 22, Chance, 16, Mary, 9, and Callie, 2, and they keep me hustling all the time, too. I’m trying to think of ..read more

Regulators in France and Italy have given Atamyo Therapeutics the green light to launch a clinical trial testing ATA-200, an investigational gene therapy for children with a type of limb-girdle muscular dystrophy called LGMD2C or LGMDR5. The multicenter, dose-escalation Phase 1b study (NCT05973630) — which will assess the safety, efficacy, and pharmacological and immunological properties of a single dose of ATA-200 — will begin dosing later this year, Atamyo announced in a company press release. “We are thrilled to obtain our [clinical trial application] approval in France and Italy for the d ..read more

I received an overwhelming response to my last column, in which I grappled with feelings of uselessness when my facioscapulohumeral muscular dystrophy (FSHD) prevented me from helping in the way I would have liked to do. In this case, I was sitting at home while my wife, Wendy, was undergoing surgery. Many of my readers, who are quickly becoming friends, expressed their concern for Wendy and me, leaving comments here on Muscular Dystrophy News Today. I also received a lot of support via LinkedIn, Facebook, and email. There have been many prayers said for Wendy’s recovery. I appreciate every o ..read more