Riley patient makes history with gene infusion therapy for DMD

By Maureen Gilmer, Riley Children’s Health senior writer, mgilmer1@iuhealth.org

The little boy didn’t know what all the fuss was about, other than he was getting some important medicine.

But there he was last week, making history at Riley Children’s Health.

Paul, a kindergartner from northern Indiana, is the first patient in the state to receive a new drug therapy that could stop the debilitating and deadly effects of Duchenne muscular dystrophy.

DMD, which typically presents in boys in preschool to school-age years, is a serious genetic muscle disease that often results in patients losing the ability to walk by the age of 10 to 12, according to Dr. Laurence Walsh, Riley pediatric neurologist.

It is caused by a lack of dystrophin, a protein needed to hold muscles together. Without that protein, muscles begin to deteriorate, leading to paralysis, heart/lung failure and early death.

Riley is the first hospital in Indiana to administer the newly approved gene infusion therapy to attack DMD, which gives Paul’s parents, Paul Sr. and Lindsey, hope for his future. (The family asked that their last name be withheld.)

“We believe the timing of everything, from diagnosis to approval for the therapy to the date of the infusion, was divine intervention,” Lindsey said, adding that she and Paul Sr. hope their son has the chance at a more normal life, maybe even playing a little soccer someday.

“We want him to be able to run like other kids,” Paul Sr. said, as his son watched nurse Anna Busald prepare the first of four syringes that would pump hope and healing through an IV into the little boy.

“I’m gonna take my medicine now,” young Paul announced. “I can’t wait!”

The next 90 minutes passed without a hitch, Busald switching out the syringe infusions every 20 minutes and monitoring Paul’s blood pressure, while he focused on a sticker book and a doctor kit and ate a lunch of chicken strips and smiley-face fries.

When the beep sounded to signify the treatment’s end, a crowd gathered around Paul’s room to clap and cheer.

He grinned and said, “That was so fun!”

Even though Paul likes to wrestle with his dad, dance and take walks, his mom began noticing he was regressing in skills he had learned as a toddler. He couldn’t run, couldn’t jump with both feet and walked on his tiptoes, signs often linked to DMD. That’s when she sought out different therapies and was eventually connected with Riley for the shattering diagnosis of Duchenne muscular dystrophy.

“If I hadn’t followed up earlier when he was missing milestones, I still might not have known,” she said.

Since that diagnosis this past spring, things have moved really fast, Lindsey said, thanks to an intense effort by Katelyn Webb, nurse navigator, who has devoted the past few months to coordinating the treatment and getting prior authorization through insurance for the $3 million therapy.

Timing was critical because the drug is only approved for use in children 4 to 5 years old. Paul turned 6 just five days after his treatment, so it was the best birthday present possible for his mom and dad.

It’s been a labor of love for Webb, a former bedside nurse, who also spent a great deal of time calming the fears of Paul’s parents.

“This is lifechanging. I feel like we’re making history here, so I’m proud to be a part of it,” Webb said. “It’s been a lot to navigate, but Paul was at the top of my mind all the time.”

After more than 30 years in pediatric neurology, Dr. Walsh is thrilled to be able to offer a promising gene therapy treatment for patients with DMD, calling it a “ray of hope” for children and their families.

“It’s a very exciting time,” he said. “This is a disease I’ve been helping families through for three decades, and it’s pretty neat at this point to have something like this to offer them.”

While its use is currently restricted to kids ages 4 and 5, he expects it to be expanded to other children if it continues to live up to its promise.

“Until recently, we’ve never really had a treatment that promises to change the trajectory of the disease to a significant degree,” Dr. Walsh said. “We don’t yet know the long-term benefit, but we know that it has done better than anything else that has come before it.”

The hope now is that it gives kids more time while even better therapies are tested.

“It’s incredibly exciting after all this time to be on the cusp of these gene therapies that I think will make huge differences in children’s lives,” he said.

Riley Chief Medical Officer Dr. Mara Nitu agrees, saying it is an honor to be the first children’s hospital in Indiana to provide gene infusion therapy for the disease. “Our mission has always been to provide the best possible care to the patients and families we serve. Being able to offer this therapy underscores our commitment to giving our patients a chance at a brighter future.”

Paul will return to Riley weekly for the next few months so his care team can monitor his overall health, including his liver function.

From the clinical trials, Dr. Walsh said children who have received the therapy begin to separate themselves from their untreated peers over the next two years in terms of preserved level of function or improvement in function.

“I would hope to see those same benefits in Paul over the same time period.”

Photos by Mike Dickbernd, IU Health visual journalist, mdickbernd@iuhealth.org

Riley Children’s Health is home to Indiana’s first Certified Duchenne Care Center, recognized by Parent Project Muscular Dystrophy. The program provides advanced treatments and compassionate care from a multi-disciplinary team of experts. The addition of the gene infusion therapy for DMD adds to the growing list of treatments and specialized procedures available to families in Indiana and around the Midwest.