New ALS treatment brings hope to patients

A patient suffering from a type of ALS — a progressively deteriorating, fatal neurodegenerative disease characterized by muscle weakness and atrophy — became on Thursday the first in China to receive a therapy that targets a gene that causes the disease.

Liu Jun, a professor with the neurology department of Shanghai Ruijin Hospital, who is in charge of the case of the 49-year-old woman at Ruijin-Hainan Hospital in Hainan province, said that the medical team will conduct comprehensive assessment of the patient — including rating her activities, electromyography, imaging and tests for specific genes — in around half a year to evaluate how the injection has worked.

The woman, a native of Shandong province, was diagnosed in Beijing in 2022.

"Another 12 patients have already made reservations to get the injections at our hospital," said Liu on Friday.

"Every tiny step of the medical progress requires colossal efforts behind the scenes. We anticipate that the new therapy will provide new hope to treat such patients," he said.

The first and only special medical zone in China, the Boao Lecheng International Medical Tourism Pilot Zone in Hainan was established in 2013 and has been granted preferential policies, including using medical devices and drugs licensed abroad but not in China.

ALS is the most common type of motor neuron disease, and patients will eventually die due to difficulty in swallowing and respiratory muscle weakness. They usually survive only three to five years after the onset of the illness.

There are currently more than 40,000 ALS patients in China. Liu said most patients are in their 40s and some are younger. The ratio of women patients is slightly higher.

Currently, two medicines are used to treat ALS in the country, but they often show limited efficacy. Doctors said that therapies with different drug targets are in urgent need.

The injection Tofersen, by US-based biotechnology company Biogen, was approved in the United States in April 2023. It treats adults with ALS who have a mutation in the SOD1 gene, which results in the production of abnormal proteins.

Tofersen can interfere in the production process, and thus reduce the synthesis of problematic SOD1 proteins.

Liu said that patients need an injection once every three to six months. Each injection costs $14,000. There are roughly 1,000 ALS patients with SOD1 gene mutations in the country.

"We'll continue to observe the actual efficacy of the novel treatment, including how it can help slow disease progression and how long its effects can be sustained after a shot," he said.