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CHKD Patient First in the Country to Receive New Gene Therapy Drug
Submitted by Elizabeth Earley

GeneT imageNORFOLK, Va. – A 3- month-old patient at Children's Hospital of The King's Daughters was the first child in Virginia, and among the first in the country, to receive a new gene therapy drug since the Food and Drug Administration approved it to treat a disease that's the top genetic killer of babies.

CHKD neurologist Crystal Proud diagnosed Kaeli Price of North Carolina with spinal muscular atrophy in May when she was 8 weeks old. SMA is a progressive neuromuscular disease that gradually wears down muscles to the point where children are unable to walk or breathe easily. Children with the most severe forms need ventilators to breathe and usually die in childhood.

But on May 24, a week after Kaeli was diagnosed, the federal Food and Drug Administration approved a new gene therapy drug, Zolgensma, for treatment of SMA. Dr. Proud arranged for Kaeli to receive the drug on June 20 at CHKD just weeks after the first baby in the country received the newly approved treatment in Florida.

"My hope for Kaeli is that she'll be able to sit and stand and walk and live a fruitful life," Dr. Proud said. "It's a life-changing drug that's given us new hope and optimism we didn't have before."

This is the first gene therapy treatment for a neuromuscular disease, and it's made headlines across the globe because drug company Novartis priced it at $2.1 million a patient, setting a world price record.

Kaeli's parents, Kelli and Brandon Price of Belvidere, N.C., feel fortunate that the drug, which is for children 2 years of age and younger, became available when it did, and that their insurance company agreed to cover it. "It's hard to put into words how we feel," said Kelli Price. "We feel like the timing was all God's doing."

There was no approved medical treatment for SMA until 2016, when the FDA approved a drug called Spinraza, which allows a backup gene to produce more of a protein needed for motor neuron development. Dr. Proud, a pediatric neuromuscular neurologist, began administering Spinraza in 2017 and now treats about 30 patients with the injections into the spinal canal.

Zolgensma, though, is a one-time infusion that uses a virus to provide a normal copy of a gene that is missing or mutated in children with SMA. The drug could ultimately be less expensive and less trouble for patients than Spinraza, which must be administered repeatedly. Dr. Proud treated a 5-month-old patient with SMA at CHKD with the gene therapy in February when the drug was still in the clinical trial phase. The baby was authorized to receive the drug by the FDA under the compassionate use, or expanded access, program, a way patients with an immediately life-threatening condition can gain access to an investigational drug outside a clinical trial. That baby, who lives in another part of the state, is doing well.

Patients in clinical trials of the gene therapy showed improvement in the two years following treatment — they could breathe without a ventilator and some were able to talk, sit and even stand on their own, developmental milestones that many patients with SMA never reach. Studies are still tracking its longterm effectiveness.

Spinal muscular atrophy affects one in every 10,000 births. Dr. Proud has been involved in a statewide steering committee to recommend newborn screening for SMA in Virginia, so early intervention can provide the best development opportunities for these children.

 





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