Gene Therapy Treatment for Spinal Muscular Atrophy: Céline’s Story

At Céline’s 6-month checkup, the pediatrician noticed the decline. She feared Céline had a rare genetic disease called spinal muscular atrophy (SMA), which affects the spinal cord and nerves and leads to progressive muscle weakness and paralysis. When untreated, it can lead to full-time ventilator support or even death by age 2.

Time is of the essence when it comes to treating SMA, as symptoms escalate quickly. The pediatrician got Céline an expedited appointment with the Division of Neurology at Children’s Hospital of Philadelphia (CHOP), one of the leading institutions for treating SMA. Bloodwork at CHOP confirmed Céline had Type 1 SMA, the most severe form of the disease.

Historically, a child diagnosed with Type 1 SMA would be cared for by a team including both Neurology and Palliative Care, because their lives were typically highly medicalized and painfully short. However, the U.S. Food and Drug Administration (FDA) recently approved the first medication to treat SMA, called Spinraza®. In clinical trials, the drug significantly slowed the disease’s progression and, in many cases, improved the strength of individuals with SMA.

At the same time, a gene therapy for SMA not yet approved by the FDA was also showing promising results in a clinical trial. The drug — called Zolgensma® — is delivered with a single-dose intravenous (IV) infusion and addresses the genetic root cause of SMA by replacing the defective or missing SMN1 gene to halt disease progression. Some children involved in the clinical trial achieved motor milestones never seen in the history of the disease, including sitting, rolling, crawling and even walking.

Céline immediately began taking Spinraza while her neurologist, Elizabeth Kichula, MD, PhD, applied to the FDA to get special approval for her to use the gene therapy even though it still wasn’t FDA approved. 

Beating the odds thanks to gene therapy

The FDA approved Dr. Kichula’s request, and Céline received the one-time infusion of the gene therapy. She recently celebrated her first birthday and is doing extremely well. She continues to take Spinraza, and so far, the combination of both drugs has helped reverse the damage that was done. She can sit up without assistance and stand up with leg braces.

“"Celine is an amazing child,” says Amber-Joi. “She’s thriving and gaining muscle. She’s always happy, always smiling and always babbling.””

Céline has intense physical therapy at CHOP and periodic follow-up appointments with Dr. Kichula and nurse practitioner Vanessa Battista, MS, RN, CPNP. Her care team has high hopes for her and thinks she will one day be able to walk with or without assistance.

“We are unfortunate that Céline has this disease, but at the same time we are really lucky that we got an early diagnosis and could get the medication and gene therapy,” says Amber-Joi. “And also lucky to be near CHOP.”

Zolgensma was recently approved by the FDA for the treatment of pediatric patients with SMA Type 1 who are less than 2 years old, offering unprecedented hope for more families battling the condition.

“While SMA remains a serious and life-threatening disorder, Spinraza and Zolgensma are changing the outlook for patients,” says Kichula. “They can stop progression of disease, making early diagnosis and rapid treatment critical to ensuring the best outcomes. While they are still not cures, they allow for continued motor improvement, particularly in the setting of supportive families and a commitment to rehabilitative therapy.”

“We continue to work on additional therapies to help all these children reach their maximal potential.”