Experimental Drug Shows Promise In Reversing Symptoms Of Rare Juvenile ALS, US Study Finds

A novel treatment has demonstrated significant improvements in young patients suffering from a rare genetic form of Amyotrophic Lateral Sclerosis (ALS), according to US researchers on Friday.

ALS, also known as Lou Gehrig’s disease, is a progressive neurodegenerative disorder affecting nerve cells in the brain and spinal cord.

It leads to the loss of motor neurons, resulting in difficulties with movement, coordination, balance, and even breathing.

While previous experimental treatments have primarily aimed to slow or halt ALS progression, the new therapy using ulefnersen (formerly jacifusen) showed potential to reverse functional losses in young patients.

Neil Shneider, a neurologist at Columbia University involved in the study, explained, “When testing new drugs for ALS, we do not expect to see clinical improvement.”

He further noted, “What we’ve seen in one patient is really unprecedented functional recovery. It’s surprising and deeply motivating for us, the ALS research community, but also the community of ALS patients.”

ALS Case Series Shows Promise

The findings come from a case series involving 12 patients treated with ulefnersen for a rare form of ALS caused by mutations in the FUS gene.

Though FUS mutations account for only 1-2% of ALS cases, they often cause aggressive disease beginning in adolescence or young adulthood.

In affected patients, toxic FUS proteins build up in motor neurons, eventually killing them.

Two patients in the study showed remarkable responses to the therapy developed by Shneider in collaboration with Ionis Pharmaceuticals.

One young woman, treated since late 2020, regained the ability to walk unaided and breathe without a ventilator – functions previously lost to the disease.

She has survived longer than any other known patient with juvenile-onset FUS ALS.

Another patient, a man in his mid-30s, was asymptomatic when treatment started but showed signs of impending symptoms.

After three years of continuous therapy, he remains symptom-free, with improved muscle electrical activity.

Overall, patients experienced up to an 83% reduction in neurofilament light, a biomarker indicating nerve damage, after six months of treatment.

“These responses show that if we intervene early enough and go after the right target at the right time in the course of the disease, it’s possible to not only slow disease progression but actually reverse some of the functional losses,” Shneider remarked.

While most other symptomatic patients did not survive the aggressive disease, several appeared to benefit from the treatment, experiencing slower progression and extended survival.

The drug was reported to be safe and well tolerated, with no serious side effects linked to its use.

Following these encouraging results, a global clinical trial of ulefnersen is now underway.

“Now we are eagerly awaiting those results, which we hope will lead to the approval of ulefnersen,” Shneider concluded.

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