A man with ALS was given a drug written for his mutation alone. A year later he is still working as a doctor.

The rest of the day

15 more stories on this beat.

Each with its own sources. None of these is a link to the story above.

1. 02

   Gene therapy passes its test in an inherited blindness

   Beacon Therapeutics said its gene therapy improved sight in a final-stage trial of 85 men and boys with X-linked retinitis pigmentosa, an inherited disease that kills the light-sensing cells at the back of the eye. [4] A year after a single treatment, 31% of the higher-dose group read at least 15 more letters on an eye chart in dim light, and 24.1% of the lower-dose group did. [4] Nobody in the untreated group managed it. [4] Biogen's gene therapy for the same disease missed its target in 2021 and Johnson and Johnson's failed last year. [4]

   Untreated0%

   Low dose24.1%

   High dose31%

   Why it matters — It is the first treatment to work in a disease that has taken sight from hundreds of thousands of people and beaten two much larger companies. The company has about 80 staff and says it may need partners to reach patients outside the US.

2. 03

   A cheap epilepsy drug and a children's brain tumour

   Levetiracetam is an ordinary antiseizure medicine, given to many people with brain tumours because the tumours cause fits. Researchers reported in Nature Medicine that children with diffuse midline glioma, a tumour in the brainstem that almost nobody survives, lived longer if they were taking it. [5] The same pattern was absent in children with high-grade gliomas elsewhere in the brain. [5] In mice, the drug slowed the brainstem tumours by quieting the nerve-to-tumour connections those tumours grow on, an effect separate from how it stops seizures. [5]

   Brainstem tumour: longer survival on the druglinked

   vsvs

   Tumour elsewhere in the brainno link

   Why it matters — The human half is a look back at records rather than a trial, so it shows a link and not yet a cause. It matters because the drug is cheap, already licensed and already in these children's hands.

3. 04

   Breast cancer pill approved for one mutation only

   The US drug regulator approved Eli Lilly's pill imlunestrant, sold as Inluriyo, with another Lilly drug, abemaciclib, for advanced breast cancer that is hormone-driven, HER2-negative and carries a mutation in the ESR1 gene. [6] That mutation turns up in tumours that have already been treated with hormone-blocking drugs. [6] The regulator approved a blood test, Guardant360 CDx, alongside it, so the prescription depends on the test finding the mutation first. [6] The decision rests on EMBER-3, a trial of 874 patients who had all been treated before. [6]

   Why it matters — It ties the drug to a genetic label rather than to the organ the cancer started in. Women whose tumours do not carry the mutation are outside the approval, even with the same diagnosis.

4. 05

   Alzheimer's proposed as several illnesses

   Alzheimer's is defined by two deposits in the brain, amyloid plaques and tau tangles, but they do not hit every region equally. [7] Writing in Nature Reviews Neurology, researchers set out a framework for the atypical forms, where the first symptom is trouble seeing, speaking or planning rather than forgetting. [7] They propose sorting patients on four axes: the symptoms, the biology present, which brain network is affected, and how fast it moves. [7] Those forms tend to start younger than the memory-first kind. [7]

   Why it matters — Trials recruit people by diagnosis, so mixing four patterns into one group can bury a drug that helps one of them. The authors argue a shared framework would make separate studies comparable.

5. 06

   First agreed rules for treating infections with viruses

   Phages are viruses that infect bacteria and nothing else, and doctors have been using them one patient at a time against infections that antibiotics no longer touch. [8] Until now there was no agreed way to choose a phage, prepare it, check its quality or record what happened. [8] Twenty professional societies, patient groups and regulators plus 18 international experts have published more than 60 recommendations in Nature Medicine, under a German medical framework. [8] They cover the whole path from the laboratory bench to the hospital bed. [8]

   Why it matters — Every treatment is matched to one patient's own bacteria, which is precisely why it never fitted the usual approval process. Written rules are what let a regulator inspect something that is different every time.

6. 07

   Inhaled antibiotic gets a faster review

   Insmed said the US drug regulator has agreed to a priority review of Arikayce, a form of the old antibiotic amikacin packed into fatty bubbles so it can be breathed in as a mist. [9] It treats MAC lung disease, a slow infection by bacteria related to tuberculosis that mainly strikes damaged lungs. [9] The company's ENCORE trial put 425 patients on either Arikayce plus standard tablets or the tablets alone, and reported better breathing symptoms and more patients clearing the bug. [9] A decision is due by 28 January 2027. [9]

   Why it matters — The drug was cleared years ago on a conditional basis, and this trial is the proof it was required to produce. The figures come from the company's own announcement, not yet from a journal or the regulator.

7. 08

   Hives drug beats the standard injection on numbers

   Cue Biopharma reported that CUE-221 cleared chronic spontaneous urticaria, a condition of unexplained hives that can last years, in 43% to 54% of patients at twelve weeks against 11% on placebo, in a 145-person trial run in China. [10] One group in the trial received Xolair, the injection doctors now use, which cleared 41%. [10] By week 28 the gap had widened, with 60% clear on the top dose of CUE-221 and 24% on Xolair. [10] The Xolair comparison was not part of the statistical plan. [10]

   Why it matters — A numerical edge over the standard treatment is not a proven one, and the trial was never designed to test it. It matters because Xolair is the only widely used option for patients whose hives ignore antihistamines.

8. 09

   A sleep-pathway drug tried in ADHD

   Alkermes gave ALKS 7290, a drug that switches on the orexin system the brain uses to stay awake, to adults with ADHD for two weeks. [11] Scores on a 54-point symptom scale fell by an average of 14 points on the lower dose and 19 on the higher one. [11] The study was a first test in humans and was not built to prove the drug works, so there is no statistical comparison. [11] Side effects included dizziness, constipation and needing to urinate more often. [11]

   Why it matters — Orexin drugs were developed to keep people with narcolepsy awake, and this is the first attempt to move the class into another condition. A four-week phase 2 trial is already enrolling.

9. 10

   Childhood brain cancer differs by age and sex

   Researchers at the Icahn School of Medicine at Mount Sinai and colleagues examined the proteins and genes of tumours from more than 100 patients aged 0 to 40 with high-grade glioma, an aggressive brain cancer. [12] They found two distinct groups among adolescents and young adults, with different molecular make-up and different survival. [12] Age and sex shape normal brain development, so the team separated those effects from the cancer's own. [12] The work came out of a US National Cancer Institute consortium with children's brain tumour networks. [12]

   Why it matters — One tumour name is carrying several biologies, and a trial that mixes them is testing a drug on more than one disease at once. The groups they found are candidates for separate trials.

10. 11

    Blocking a cell's recycling makes a tumour feel radiation

    Some brain tumours carry a mutation in a gene called IDH1, which rewires how the cell makes energy. [13] Researchers found those tumour cells lean on autophagy, the process by which a cell digests its own worn-out parts for fuel. [13] In mice, silencing a gene the process needs, using tiny protein packages carrying an interfering RNA, made the tumours shrink under radiation and left the animals with lasting immunity to the cancer. [13] The work was published in Nature Communications. [13]

    Why it matters — Radiation is standard for these tumours and works poorly, and this points at why. It is mice and cells, which is a long way from a treatment people receive.

11. 12

    A blood-filter company becomes an eczema company

    North Immunology, a private biotech backed by ADAR1 Capital Management, is merging into Aethlon Medical, a Nasdaq-listed company that had been developing a device to filter patients' blood. [14] The combined company will be built around North's lead drug, NOR-101, an antibody that blocks two inflammation signals at once for atopic dermatitis, the commonest form of eczema. [14] The drug is due to enter the clinic early next year, with first data expected by mid-year. [14] Existing eczema drugs block only one of the two pathways. [14]

    Why it matters — A reverse merger is how a small biotech reaches the stock market without a listing of its own. The shell it used had been trying to sell a machine that filters a patient's blood.

12. 13

    Radioactive drug paired with a pill in pancreatic tumours

    Peptide receptor radionuclide therapy sends a radioactive atom into a tumour by attaching it to a molecule the tumour's cells grab. [15] Doctors added sunitinib, a pill that starves tumours of the blood vessels they grow, to the standard radioactive treatment in a small group of heavily pretreated patients with advancing pancreatic neuroendocrine tumours. [15] Three patients had near-complete responses on scans and two had partial ones, and the combination was tolerated. [15] Laboratory work showed each drug made the other bite harder. [15]

    Why it matters — It is a pilot with a handful of patients and no comparison group, so it sets up a trial rather than settling anything. These tumours usually come back after the radioactive treatment alone.

13. 14

    A cancer pill tried in a rare womb cancer

    Uterine leiomyosarcoma grows in the muscle wall of the womb, is aggressive and has no established treatment. [16] Researchers tested amebaciclib, a drug that blocks the switches a cell uses to start dividing, in mice bred to develop the tumour on their own. [16] The drug shut down that signalling chain and slowed the tumours. [16] The same class of drug is already licensed in breast cancer, where it is given with hormone treatment. [16]

    Why it matters — A licensed class reaching a cancer with nothing available is the cheapest kind of progress, because the safety work is done. It is a mouse result, and most mouse results do not carry over.

14. 15

    A cheaper way to read cancer's traces in blood

    Fragments of DNA from dying cells float in the blood, and their chemical tags reveal which tissue they came from and whether a tumour is present. [17] The cheap way of reading those tags, MeDIP sequencing, tells you a region is tagged but not how heavily, which has limited what it can be used for. [17] A team published a statistical model in Communications Biology that combines those cheap reads with reference maps to recover the missing quantities. [17] They tested it on simulations, matched datasets and patient samples. [17]

    Why it matters — Blood tests for cancer live or die on cost, because they only pay off when used widely. The code is free to download.

15. 16

    Children's gene therapy starts commercial production

    Fayuvi, approved last week as the first treatment for Sanfilippo syndrome type A, is now being made for sale at Andelyn Biosciences' plant in Columbus, Ohio, alongside its developer Ultragenyx's own site in Bedford, Massachusetts. [18] Sanfilippo type A is an inherited disease that strips away speech and thinking in young children; between 3,000 and 5,000 people worldwide have it and half do not reach 15. [18] It is the first approved gene therapy made on Andelyn's production platform. [18]

    Why it matters — An approval only reaches a child if somebody can make the doses. Gene therapies are grown in living cells, which is why supply is a separate problem from approval.