Novartis said Friday that it would continue to discuss with the domestic regulators to receive reimbursement for its gene therapy Zolgensma, which has effectively reserved motor developments in infants diagnosed with spinal muscular atrophy (SMA).

The company hosted an online conference on Friday and presented an excellent efficacy of its gene therapy and the value it carries for treating rare genetic diseases found in children.

"Zolgensma showed therapeutic effects in infants older than six months regardless of whether or not other existing treatments were administered," Novartis Global Medical Affairs Vice President Sandra Reyna said. "Among the eleven patients administered with Zolgensma, 100 percent of those who had never taken any other treatment and 85.7 percent of the rest who switched from previously received treatments to Zolgensma showed improved or stable motor development."

The average age of the patients in the two groups was 17.3 months and 17.6 months, and Zolgensma has provided clinically significant therapeutic benefit regardless of the age of administration or existing treatment while maintaining the safety profile, Reyna added.

Zolgensma, the most expensive drug on the planet, became the first and only genetic therapy in Korea that could prevent the progression of SMA in children with a single shot. More than 1,200 patients have received its innovative gene therapy, including domestic patients.

Korea approved the drug on May 28 to treat type 1 SMA patients with a biallelic mutation in the SMN1 gene, or the number of copies of the SMN2 gene is three or fewer. The U.S. Food and Drug Administration also authorized the use in May 2019 after granting orphan drug and breakthrough therapy status.

"As Zolgensma provides a modified treatment option compared to the existing life-long treatments and reduces medical and socioeconomic costs from in long-term with improved quality of life of patients and their families, we hope the nation could form an environment where Korean patients could receive our therapy as soon as possible," Reyna said.

Moon Jong-min, chairman of the Korea Spinal Muscular Atrophy Patients Association, also called for health insurance coverage for Zolgensma for domestic SMA patients.

"Early diagnosis is the most important in SMA patients, but it is not included in newborn screening in Korea," Moon said. "The awareness of SMA is low in Korea, and the diagnosis is difficult before children develop the symptoms, so early diagnosis is necessary to provide gene therapy such as Zolgensma."

Novartis Korea's Zolgensma and Ophthalmology Division managing director Cho Yeon-jin said, "Looking at the long-term management of SMA, Zolgensma provides excellent therapeutic effect and convenience for patients and their families, and the cost is quite predictable compared to the existing methods that require life-long treatments."

Cho added that the company would do its best to work with the government to provide innovative new drugs such as Zolgensma to domestic patients and their families as soon as possible with the ongoing reimbursement discussion.