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HealthQuiet 4d · day 6

Man with rare ALS improves after first-ever RNA therapy targeting genetic mutation

Antisense oligonucleotide treatment shows promise for motor neuron disease caused by CHCHD10 mutation.

newest coverage 3d agosummary written 4d ago6 pieces997 likes & upvotes13 comments NewswiresMastodonBlueskyGoogle NewsReddit

What to know

  • A physician with rare CHCHD10-mutation ALS improved after receiving antisense oligonucleotide therapy, the first targeted RNA treatment for this genetic form of motor neuron disease.
  • The patient showed reduced neuronal damage markers and continued working one year post-treatment with no serious side effects.
  • Researchers caution that 2–3 more years of monitoring and testing in additional patients are needed to determine whether the therapy stops progression or offers a cure.
  • The approach could extend to other rare and common genetic mutations driving ALS, affecting 5–10% of ALS cases with known genetic causes.

“Roughly 5–10% of people with ALS have a known genetic mutation. Antisense therapies seem to be safe and can be developed for people with common genetic mutations, for those with rare or even unique mutations, and for people whose disease is caused by multiple mutations.”

Fleur Garton, Neurological disease researcher · Nature News ↗

Trial participant First patient treated with mutation-targeting RNA therapy for ALSSteve Vucic Neurologist and ALS researcher, University of SydneyFleur Garton Neurological disease researcher, University of Queensland

Man with rare ALS improves after first-ever RNA therapy targeting genetic mutation
nature.com

How it unfolded 1 development · click the chart to see its coverage articlesposts

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Sep 18Sep 19Sep 20Sep 21Sep 22yesterdaynow · 3:50 AM ET
  1. 1

    Results published; researchers call findings exciting but cautious

    The case study was published in a peer-reviewed journal this week. Neurologist Steve Vucic called the results an "exciting first step" while noting it is too early to know if the treatment stops disease progression or cures the condition. Fleur Garton noted that similar antisense therapies could be developed for people with common, rare, or multiple genetic mutations driving ALS.

    “the results are an "exciting first step", although it is too early to know whether the treatment could stop disease progression or be a cure…”
    — Steve Vucic
    • eicathomefinn.bsky.social

      'Unlike typical gene therapy, which alters a person’s genes to treat a genetic disease, antisense oligonucleotide [RNA] therapy, uses short strands of genetic material to target RNA produced by the gene and reduce how much protein is made.' Looking for good news. Advances in RNA science & med.

      eicathomefinn.bsky.socialBluesky4d ago995▲view on Bluesky ↗
  2. background

    One year after treatment, patient shows improved symptoms and continues physician work — A year after the first dose, the patient showed improved symptoms including reduced neurofilament light chain protein levels in blood, a biomarker for neuronal damage. He continued to work as a physician, marking the first successful use of a gene-targeting RNA treatment for this rare motor neuron disease.

  3. background

    Patient receives first doses of antisense oligonucleotide therapy — The trial participant received three 50-milligram doses of the RNA drug delivered to his spine, followed by three 75-milligram doses, with treatment spanning from April 2024 to April 2025. He experienced no serious negative side effects and showed no cognitive decline.

Also covered reported alongside — the timeline has no entry for these yet

  1. 2 outlets First for RNA therapy: man with rare motor-neuron disease improves after treatment

    first by Nature, 5d ago · also Nature News