There’s no cure for Duchenne muscular dystrophy (DMD), but thanks to advances in treatment, people with the disease now have longer and healthier lives. Years ago, children with DMD rarely lived past their teens. Today, they live into their 30s and sometimes well into middle age. There are also more ways to ease symptoms and protect the heart and lungs.
“These are exciting times,” says neurologist Brenda Wong, MD, director of the Duchenne Muscular Dystrophy Program at UMass Health Chan Medical School in Worcester, Massachusetts. She points to greatly improved heart care for patients and new stem cell and exon-skipping treatments in clinical trials.
New Drug Treatments
The FDA has approved many drugs to treat DMD in the last 10 years. The ones used most often control inflammation.
Emflaza (deflazacort)
Approved for DMD in 2024, Emflaza is a new type of corticosteroid (steroid). The steroid prednisone has long been the main treatment for DMD. It slows muscle loss, helps your lungs work better, and helps many kids and teens walk for longer. Steroids also have serious side effects, including slowed growth, weight gain, and brittle bones and fractures. Studies show that Emflaza helps kids as much as prednisone. It also seems to aid normal growth and is a little less likely to cause weight gain and bone loss.
Agamree (vamorolone)
A new type of steroid, Agamree, is thought to have fewer and less severe side effects than prednisone. Yet like other steroids, it can cause brittle bones, cataracts, changes in how a person feels and acts, weight gain, and low vitamin D. It’s approved for kids aged 2 and up.
According to Wong, some parents of older kids like to stick with prednisone because they know it works. Younger children may start on one of the newer steroids. “In either case, we want to be very proactive about side effects, not just throw up our hands,” she says.
Gene therapies
Elevidys (delandistrogene moxeparvovec) is the first gene therapy approved for DMD. It delivers a gene directly to muscle cells that tells them to make a shortened version of dystrophin. That’s the missing protein in DMD. It’s needed to keep muscles strong and healthy. Elevidys doesn’t restore lost muscle but may make you stronger. In trials, boys who received Elevidy were able to walk longer than expected. The ability to walk longer before you need a wheelchair is a key measure of treatment success.
But Elevidys has been connected to two cases of fatal liver failure. It also costs $3.2 million for a single dose. Wong adds that there is concern about how long its effects will last. “Families are starting to see durability decline after a year,” she says.
Barry Byrne, MD, who directs the Powell Gene Therapy Center at the University of Florida and is a member of the Muscular Dystrophy Association Board of Directors, says gene therapy offers “immense hope for patients living with Duchenne muscular dystrophy. He adds, “We [the Muscular Dystropy Association] recently collaborated with Parent Project Muscular Dystrophy to develop Joint Consensus Guidelines that help ensure the safe and equitable gene therapy for DMD — a vital step toward unifying care practices and advancing research.”
Exon-skipping treatments
Gene changes that cause DMD occur in certain parts of the gene called exons. Exon-skipping drugs help your body skip over certain exons when it makes dystrophin. This produces a protein that’s shorter than normal but still works somewhat. Approved exon-skipping drugs include:
- Amondys 45 (casimersen) for patients who can skip exon 45.
- Exondys 51 (eteplirsen) for patients who can skip exon 51.
- Viltepso (viltolarsen) for patients who can skip exon 53.
- Vyondys 53 (golodirsen) for patients who can skip exon 53.
These drugs only work for about 30% of patients, and the overall benefit is small. The drugs also need to be given every week through an IV. Researchers hope future treatments will work better, treat more exons, and require fewer infusions. At least 10 new exon-skipping treatments are in the works. If approved, they would treat up to 80% of people with DMD.
Wong thinks one new exon-skipping drug could be “transformative.” Called delpacibart zotadirsen (del-zota), it’s for people who might be helped by skipping exon 44. In a small early trial with 26 patients, the drug increased dystrophin by at least 25%. It also lowered key blood markers of DMD — creatine kinase (CPK) and myostatin — to nearly normal levels.
Treatments that help repair muscles
Duvyzat (givinostat) is a liquid medication that targets enzymes called histone deacetylases. When the enzymes are too active, they cause inflammation and prevent muscle repair. Blocking these enzymes can lower inflammation and help repair or grow muscles damaged by DMD.
Nutritional Supplements
Certain nutritional supplements have been tested and found to be helpful for patients with DMD. They include coenzyme Q10 (CoQ10), creatine monohydrate, and vitamin D. Many healthy people use these supplements for energy and muscle growth.
- Coenzyme Q10 is an antioxidant that protects cells from damage. It also lowers blood pressure and helps the heart. Your body makes some CoQ10, and you also get some from food. But levels go down as you age. They are even lower in people who have DMD.
- Creatine monohydrate boosts energy and helps muscles grow. But it may not be right for everyone who has DMD due to its effect on the kidneys.
- Vitamin D is crucial to overall health, but most people don’t get enough. For patients on steroids, it plays a key part in slowing bone loss. It’s usually used with osteoporosis drugs and sometimes calcium.
Heart Medications
Like any other muscle, a lack of dystrophin harms the heart muscle. This can lead to heart failure, which means the heart isn’t pumping as well as it should. Most people can live well with heart failure. Many of the medications they take can also help patients with DMD. They include:
- Angiotensin converting enzyme (ACE) inhibitors open blood vessels so the heart can pump more easily. They’re usually the first treatment used for DMD.
- Beta-blockers improve your heart’s pumping ability over time.
- Aldosterone antagonists such as spironolactone or eplerenone protect the heart from more damage.
- SGLT-2 inhibitors lower blood pressure and blood volume, protect the kidneys, and help prevent metabolic syndrome.
By the time many patients are adults, they may be on three or all four of these drugs. Heart treatments have helped people with DMD live longer.
Nutrition
Healthy eating and exercise are as important for DMD as medications. Certain foods can prevent some drug side effects and help you feel better overall. Here’s what doctors recommend:
- Get plenty of protein to help build muscle. If milk and cheese are hard to digest, try nondairy versions.
- Choose healthy fats like avocados, nuts, and olive oil.
- Go for lower-sugar fruits and non-starchy vegetables.
- Eat lots of fiber to relieve constipation caused by steroids and being less active.
- Low-salt foods are best for your heart and blood pressure.
- Avoid refined carbs as much as possible. White rice, bread, and potatoes raise your blood sugar and put on weight. If whole wheat bothers you, use brown rice, almond flour, or coconut flour.
- Avoid processed and fast foods.
- Avoid sugary drinks and sweets.
- Work with the nutritionist on your team to make sure you get more nutrients with fewer calories.
Wong says the goal for people with DMD is to “eat well, breathe well, sleep well, live well.”