Pediatric Neurology Patient Receives First Intrathecal Gene Therapy in the World at Holtz Children’s Hospital 

By: Ruelle Champion

The first pediatric patient in the world to receive gene therapy given directly into their spine to treat spinal muscular atrophy (SMA) happened at Holtz Children’s Hospital at Jackson Memorial Medical Center. It was the first time anyone received the FDA-approved gene therapy called ITVISMA.

Three-year-old Darius McDowell was born with a severe case of SMA. The treatment given into his spine, or intrathecally, is meant to slow the progression of the disease and improve his movement.

What’s Spinal Muscular Atrophy?

SMA is a genetic disease that affects the muscles. People born with it are missing – or have a damaged – SMN1 gene which creates the protein that muscle nerve cells need. Without this protein, the nerves that control certain muscle movements die. Over time, the affected muscles weaken and atrophy, or waste away.

People with SMA can have trouble with moving, sitting, swallowing, and breathing due to muscle weakness.

“As a result of Darius’ disease, he’s on a ventilator and he depends on a feeding tube,” said Roberto Lopez-Alberola, MD, the chief of pediatric neurology for Holtz Children’s. “With this treatment, we have forever changed the natural history of this disease.”

What’s Gene Therapy?

Gene therapy helps by replacing the SMN1 gene that SMA patients are missing. It eventually stops muscle weakness and allows these patients to improve their quality of life.

“After giving the gene, it will continuously produce the protein that Darius is missing,” Dr. Lopez-Alberola said.

In the past, patients like Darius were given gene therapies through an IV. The treatment is given only once by IV infusion. This method takes longer to reach the spinal cord as the treatment travels through the bloodstream.

After a single injection through the spine, the medication is able to work faster than through IV. The U.S. Food and Drug Administration approved intrathecal treatment for SMA in November 2025.

Darius’ Outlook

Due to the severity of Darius’ condition, his spinal injection was given in an operating room as a team of nurses monitored him. For patients with less severe cases, ITVISMA can be given in an outpatient setting.

ITVISMA travels into the spinal cord through a virus that eventually dies out. After the injection, the patient is monitored through lab work for three months to test blood cells, the liver, and heart.

Darius went home with his parents an hour after the procedure. Over time, the progression of Darius’ SMA should stop.

“We have tremendous expectations and hope for a much brighter future for Darius,” Dr. Lopez Alberola said.