Mayo Clinic Researchers Studied New ALS Therapy

A single-patient study showed promising results for a rare genetic form of the neurodegenerative disease.

Updated on Oct. 1, 2026 in Stroke

A bright, sterile laboratory setting with clean stainless steel surfaces and glass beakers under cool, professional clinical lighting. — Mayo Clinic researchers in Jacksonville reported promising results from a novel experimental therapy targeting a rare genetic mutation linked to ALS. AI Illustration. Upload story photo >

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Should medical research prioritize the development of personalized genetic therapies for rare diseases?

Mayo Clinic researchers in Jacksonville published study findings on an experimental therapy for a rare form of ALS linked to a CHCHD10 gene mutation. The treatment involved injecting antisense oligonucleotides into the patient's spinal cord fluid.

Why it matters

The therapy targeted the specific genetic cause of the condition, offering a potential path for treating rare forms of the disease. Researchers believe these findings could help inform future medical approaches for more common illnesses.

The study involved delivering six doses of an experimental antisense oligonucleotide treatment. The n-Lorem Foundation evaluated more than 320 candidates before selecting this specific therapy.

The players

Mayo Clinic

This is a nonprofit academic medical center and research institution based in Jacksonville, Florida.

n-Lorem Foundation

This organization evaluates antisense oligonucleotide candidates to provide experimental treatments for rare diseases.

Rosa Rademakers

She is a researcher recognized with the 2026 Breakthrough Prize for her foundational work on genetic mutations.

The details

Researchers delivered the therapy through spinal cord fluid injections, where the antisense oligonucleotides bound to RNA to reduce protein production contributing to the disease. The patient experienced a 50% decline in neurofilament light levels, while measures of cognition and breathing remained stable or improved.

2011: Rosa Rademakers helped discover the C9orf72 gene mutation.
2026: Rosa Rademakers received the Breakthrough Prize in Life Sciences.
October 1, 2026: Mayo Clinic researchers published the study findings.

The Big Picture

This case study follows the rigor of the n-Lorem Foundation ASO evaluation process in identifying potential treatments for rare genetic conditions. It highlights a shift toward personalized genetic interventions that aim to address the root causes of disease.

This experimental treatment is not currently available as standard clinical care. Patients should consult with neurologists to understand how emerging genetic research might impact future treatment options.

The takeaway

This study demonstrates how targeted genetic therapies can potentially stabilize or improve function in rare disease cases. These findings serve as a foundation for future research aimed at applying personalized medicine to broader populations.