Three “Treatable CMT” Stories, and What the Market Taught Us

The Hype and Hope Cycle

Between 2019 and 2023, three experimental treatments got a lot of attention in the CMT world. I wrote about all of them as the news came in: a newly discovered genetic cause of CMT2 that came with a ready-made drug (A New Genetic Cause of a Previously Unknown Subtype of CMT2, then The “First Treatable” Form of CMT? and The “First Treatable CMT Disease” Is Neither CMT Nor a Disease); a second phase 3 trial for a CMT1A “pleodrug”; and a Korean gene therapy for diabetic nerve pain that its maker hoped might work on CMT1A.

Who pays to finish testing a promising drug trial for a rare disease once its more lucrative potential applications for more common diseases don’t pan out?

The news always arrived the same way. A company press release, written up by the trade press, was passed along by CMT charities in newsletters and emails as news, with words like “first,” “breakthrough” and “treatable” doing a lot of work. Then came years of quiet, and eventually, if you went looking, a missed endpoint, a withdrawn trial or a liquidation notice. Those don’t get relayed nearly as often. I griped about this in The Problem With Writing About CMT, and I’m afraid the gripe has aged well. (For more on how one of those charities sells itself, see Barbies and Warriors.)

As of October 2026, all three stories have ended in the same place. None of these drugs is approved for CMT anywhere, and I can’t find an active CMT trial for any of them.

Govorestat and SORD: The “First Treatable CMT”

In 2020 a large international team led from Stephan Züchner’s lab in Miami reported that mutations in both copies of the SORD gene cause a common recessive axonal neuropathy. Without working sorbitol dehydrogenase, sorbitol builds up in cells and blood. In patient cells and fruit flies, drugs called aldose reductase inhibitors brought sorbitol back down. The paper’s title called it “a common and potentially treatable hereditary neuropathy.” Note the word “potentially.”

Applied Therapeutics already had an aldose reductase inhibitor, AT-007 (later govorestat), in development for classic galactosemia, another rare metabolic disease. It ran a phase 2/3 trial, INSPIRE, in 56 people with SORD neuropathy.¹ In May 2025 the company announced that govorestat missed the primary endpoint, a 10-metre walk-run test at 12 months compared with placebo. Blood sorbitol did fall, and the CMT Health Index, a patient-reported questionnaire, improved. It was the second blow in six months: in December 2024 the FDA had rejected govorestat for galactosemia over deleted trial data and a dosing error.

In November 2025 the company reported that the FDA’s “key open issues” included “conclusive evidence for the pathophysiology of CMT-SORD” and the use of sorbitol levels as a surrogate endpoint. In other words, the FDA wasn’t yet convinced that lowering sorbitol is the same thing as helping nerves. The planned confirmatory phase 3 is now listed as withdrawn: “the sponsor decided not to proceed,” and nobody was enrolled.²

Then the company itself was sold for pennies. In December 2025 the British firm Cycle Pharmaceuticals agreed to buy Applied Therapeutics for 8.8 US cents a share, when the shares had been trading at 22 cents. Shareholders also got small contingent payments if govorestat is ever approved for galactosemia or SORD, or sells well. Cycle completed the purchase in February 2026.

On 17 April 2026, Cycle stopped every govorestat study, including the open-label extension of INSPIRE and the early- and expanded-access programs. People who had been taking the drug were told to talk to their trial-site clinicians about next steps. Cycle says it still intends to develop govorestat for CMT-SORD and is working out with the FDA what more data it needs.

To be fair, the SORD discovery was real and useful: it gave a diagnosis to people who had none. And a 12-month walking test may be too blunt to catch a benefit in a slowly progressive disease. But that is an argument for a better trial, and as of today nobody is running one.

How the Charities Told It

Both of the big US CMT charities had a stake in this story. The SORD paper thanks the CMT Association among its funders. In 2021 the CMTA teamed up with Applied Therapeutics to find people with SORD mutations for its trials, and it later called Applied a CMTA-STAR “Alliance Partner.” The Hereditary Neuropathy Foundation (HNF), which now presents itself as CureCMT, called Applied a partner in its TRIAD program and says it was “instrumental in helping to facilitate and accelerate the approval” of govorestat. The drug was never approved.

Disclosure: In 2021 I wrote two guest articles for the Hereditary Neuropathy Foundation’s website and magazine: SORD: A Lesson in Repurposing Drugs to Treat Hereditary Neuropathy (March 2021) and New Study Measures Progression of CMT1A Nerve Impairment (May 2021).

On 18 May 2025, Applied’s own press release said that INSPIRE’s primary endpoint, the walk-run test, was “not statistically significant (p=0.457).” That same day the CMTA congratulated its partner on “encouraging signs of sustained clinical benefit” and said govorestat “has the potential to become the first approved treatment for any form of CMT.” Two days later HNF’s CEO called it “a pivotal moment” and “a treatment that not only slows progression but truly improves patients’ lives.” Neither item mentioned the missed endpoint, and neither did their August 2025 items on Applied’s plans for an FDA filing.³

Both did report the end. The CMTA posted its item on 21 April 2026, four days after Cycle’s announcement, and it was the first CMTA item I found that mentioned the missed endpoint. It also added an editor’s note to its CMT-SORD page. HNF mentioned the stop a month later, in a notice of an FDA listening session, as a pause “to re-evaluate the data package needed for FDA review.”

One more irony: Applied said the walk-run test it missed had since been dropped from the CMT Functional Outcome Measure because of results from ACT-CMT, a natural history study the CMTA funds.

Do the two charities pass money to each other? Not that their tax returns show. Neither the CMTA’s returns for 2015 to 2025 nor HNF’s for 2012 to 2024 list a grant to the other, though Schedule I only itemizes grants over $5,000. What they share is a network. Both have funded Stephan Züchner’s GENESIS Project in Miami: HNF gave it $115,000 between mid-2018 and mid-2022, and the CMTA gave $6,000 in 2015, $50,000 in 2020, $25,000 in 2021 and $423,000 in 2025. Both partnered with Applied. When HNF brought CMT-SORD patients to the FDA in August 2026, its scientific speakers were Züchner and David Herrmann, both CMTA advisers.

PXT3003: The “Pleodrug” That Couldn’t Beat Placebo

PXT3003, from the Paris company Pharnext, was a low-dose mix of three old drugs (baclofen, naltrexone and sorbitol) taken as a 5 mL oral solution twice a day. Unlike the other two drugs in this post, it was designed for CMT1A from the start.

Its first phase 3 trial, PLEO-CMT (323 people), ran into trouble when crystals formed in the high-dose solution, so that arm was stopped early. Many participants dropped out, and the analysis plan was changed to cope with the missing data. On that modified analysis, the high dose beat placebo on the Overall Neuropathy Limitations Scale (ONLS) by 0.37 points. Every author of the published paper was either paid by Pharnext or worked at an institution Pharnext funded for the study. That shaky result is why a second phase 3, PREMIER, was needed.

In December 2023 PREMIER failed to show a benefit on the ONLS. Pharnext blamed an “unexpected” improvement in the placebo group. Its shares fell 68% that morning, though they were already worth less than a euro cent. In March 2024 the company said in a regulatory filing that drug and placebo hadn’t been balanced within each trial site. It also pointed to better responses in some subgroups.

Pharnext then pinned its hopes on a Chinese phase 3 run by its partner Tasly through a joint venture. By June 2024 it said Tasly wouldn’t let it disclose the Chinese results, so it couldn’t finish talks with prospective licensees. Its main backer, Néovacs, having already put in more than €23 million, declined to add about €9 million more. Pharnext asked for its own liquidation, and on 22 August 2024 the Paris Commercial Court opened judicial liquidation proceedings. The company said selling its assets wasn’t expected to leave anything for shareholders.

Correction, October 10, 2026: This paragraph originally said I had found no public record of the Chinese trial results or of a buyer for the rights. The Chinese phase 3 study has since reported a statistically significant ONLS result.⁴ In its 176 participants, the reported between-group estimate was a modest −0.249 ONLS points at 15 months (95% CI −0.467 to −0.030). The result differs from PREMIER and needs to be weighed with that trial and the earlier PLEO-CMT evidence; it is not, by itself, proof of approval or definitive clinical benefit. On 9 September 2026 Néovacs reported that it had accepted a binding letter of intent from an unnamed American biopharmaceutical company to acquire intellectual property rights and scientific know-how around PXT3003, with an exclusivity period running until 15 October 2026.⁵

Engensis: A Diabetes Drug Looking for a Market

Engensis (VM202), from Seoul’s Helixmith (formerly ViroMed), is a plasmid: a small loop of DNA, injected into muscle, that carries the gene for hepatocyte growth factor (HGF). It was developed for painful diabetic peripheral neuropathy, a market of millions, and also tried in diabetic foot ulcers, ALS, heart disease and blocked leg arteries.

In September 2019 its first phase 3 in diabetic nerve pain, with 500 people, came back unreadable. Engensis DNA turned up in 36 placebo patients, and 32 treated patients had abnormally low levels. The company blamed drug handling at a trial hospital. Helixmith had been the second-largest company on the Kosdaq. Its shares fell by the 30% daily limit to 120,000 won, and its market value dropped from 3.75 trillion won to 2.56 trillion won.

Shareholders then paid for the restart. Helixmith raised 146.9 billion won in a rights offering in August 2019, when its CEO said there would be no more rights offerings for two years. It raised 286.1 billion won in another one in September 2020. The share price went from 318,000 won in March 2019 to 25,800 won at the end of March 2021. That month, facing a minority-shareholder revolt, CEO Kim Sun-young pledged to sell all his shares if Engensis trials hadn’t succeeded by October 2022.

The trials didn’t succeed. In June 2021 the US phase 3 in diabetic foot ulcers ended early because recruitment stalled: it had aimed for 300 patients and had evaluated 44. In January 2024 the remaining US phase 3 trials in diabetic nerve pain missed their primary endpoint, and the shares fell by the daily limit again, to 4,250 won. By then Bio Solution was taking control, with a 15.22% stake under a deal disclosed in December 2023; its vice-president said the trial’s success “was not a factor” in the investment. A small US trial in people with blocked leg arteries didn’t improve six-minute walking distance either.

The CMT1A trial ran in Seoul from 2020 to 2022, and the results were published in March 2026.⁶ It treated 12 adults, with no placebo group. Engensis was safe, and CMT scores improved over nine months, mainly on sensory items like pinprick and vibration. Walking and leg function didn’t change significantly. The investigators called for a randomized phase 2b. I can’t find one registered.

In May 2026 China’s drug regulator approved NL003, a product developed from Engensis by Beijing Northland Biotech, which licensed the technology back in 2004. Its approved use is limb ulcers caused by severe lower-limb ischemia in people who can’t have surgery to restore blood flow or for whom it failed. It is described as China’s first plasmid DNA gene therapy. Helixmith gets royalties of 7% of net sales or 4% of gross sales, whichever is greater, for seven years. Helixmith’s net loss fell from 64.1 billion won in 2023 to about 300 million won in 2025. The drug that failed for nerve pain was finally approved for blocked blood vessels, in one country.

Poor Circulation and CMT: Is NL003 Relevant?

A drug for poor leg circulation might catch the eye of people with CMT, since many of us have cold, purple or blue feet that sometimes swell, or mottling from blood pooling. Poor circulation and related issues likely matter as a comorbidity for some of us.

What We Know About Cold, Discoloured CMT Feet

Surprisingly little. Patient guides blame lost insulating muscle, less movement and poorer circulation for chronically cold hands and feet and swollen ankles. Calf muscles also pump blood back up the leg, so when they are weak or idle, blood and fluid pool (a mechanism studied mostly in venous disease, not CMT). Research also implicates the autonomic nerves that control sweating and blood vessels:

• In a 1994 study of 20 adults with the traditional CMT1 classification, responses to a one-minute cold stress test were abnormal but variable, with no single “CMT pattern.”
• Skin biopsies in CMT1A show loss of small autonomic nerve fibres, including those that drive sweating. Many patients also have abnormal temperature sensation: cold detection was impaired in 53% of 49 people with CMT1A.
• Autonomic problems with heart rate and blood pressure reflexes showed up in 6 of 17 people in a 1980 study. A 2026 Czech study found them in about a third of people with CMT1A or CMTX1, compared with 10% of controls.

These are small studies, mostly in CMT1A, and I found none that measured blood flow in CMT feet directly. Still, none of this research suggests that the arteries themselves are blocked. The usual story is nerves and muscles, not plumbing.

What NL003 Is Actually For

Critical limb ischemia, now usually called chronic limb-threatening ischemia, is the end stage of peripheral artery disease (PAD). PAD is mostly atherosclerosis: arteries narrowed by plaque. International vascular guidelines define the condition as PAD plus pain at rest, gangrene, or a leg ulcer lasting more than two weeks, and they exclude non-atherosclerotic causes. NL003 is meant to grow new blood vessels around blockages in people who have run out of surgical options. It isn’t a treatment for the cold, mottled feet of CMT as such.

Where the Overlap Is Real

CMT doesn’t protect you from ordinary artery disease. People with CMT who are older, smoke, or have diabetes, high blood pressure or high cholesterol can develop PAD like anyone else, and diabetes on top of CMT is especially hard on feet. For them, poor circulation may be real arterial disease.

Foot ulcers are the other overlap. They are a hallmark of sensory-predominant types: CMT2B has a high frequency of foot ulcers, infections and toe amputations, and so do the hereditary sensory and autonomic neuropathies. But in a Mayo Clinic wound-clinic series, the main risks for neuropathic foot ulcers were lost sensation, age, obesity, repeated injury and poor foot care. Those ulcers come from unfelt pressure and injury, not lack of blood, so a drug that grows blood vessels matters only if ischemia is also present.

What to Ask Your Doctor

Cold, discoloured feet with CMT deserve a circulation check if you also have risk factors for artery disease. The same goes for leg pain when walking that eases with rest, pain at rest, or a wound that won’t heal. The standard first test is the ankle-brachial index (ABI), which compares blood pressure at your ankle and your arm. Both the Canadian Cardiovascular Society’s 2022 PAD guidelines and the 2024 American guideline use it. With diabetes, arteries can be too stiff for an ABI to be reliable, and toe pressures are often used instead.

As for NL003, it is approved only in China. Health Canada’s Drug Product Database has no listing for it under any of its names (I checked in October 2026), and Engensis has no FDA approval in the US. None of this is medical advice; take these questions to your family doctor or neuromuscular clinic.

What the Pattern Says

Engensis is the clearest case: built for a big market, tested on CMT as a fallback, and approved somewhere else, for something else. The other two followed the same arc of hype and quiet endings. Investors and press releases ran well ahead of the evidence. Shareholders absorbed the financial losses, including the small investors who organized against Helixmith’s management and the Pharnext shareholders who were warned they would get nothing. Patients absorbed the rest: years of hope, trial visits, and, for some in the govorestat extension, losing a drug they had been taking. The charities relayed the hope as news. The bad news reached their readers late, if at all, and softened.

The fit isn’t perfect. Govorestat was aimed at rare diseases from the start, and PXT3003 was designed for CMT1A. And there’s a fair counterpoint to all of it. Private capital paid for trials that no CMT charity could have afforded: Helixmith’s 2020 rights offering alone was 286.1 billion won. Negative results are real science. The HGF technology seems to have helped patients with limb ischemia, who matter too. And for rare diseases, piggybacking on a bigger market is often the only way to get any attention at all.

That leaves a big open question: Who pays to finish testing a promising result in a small disease once it stops serving a bigger one? The Engensis CMT1A signal is weak, but it deserves a proper controlled trial. So does the question of whether earlier or longer sorbitol lowering helps people with SORD neuropathy. Answering them may take public funding, patient-led funds or academic networks, such as NMD4C, whose Neuromuscular Clinical Trial Network was set up to make Canadian sites trial-ready. Its funding gives a sense of scale: NMD4C’s CIHR network grant is $200,000 a year, a rounding error next to a single Kosdaq rights offering.

Three times the cure arrived as a press release. Three times it left as a footnote. The market found a use for a CMT drug in the end; it just wasn’t CMT. Ask why groups like the CMTA and HNF cheered on the day the trial missed its main goal, and why, when the studies stopped, it arrived as a pause on the road to approval. 🦗

Notes

1. Applied Therapeutics, “Pharmacodynamic Efficacy and Clinical Benefit,” NCT05397665. ↩︎
2. Applied Therapeutics, “Confirmatory Study of Govorestat,” NCT07191912. ↩︎
3. Charcot-Marie-Tooth Association, “FDA Meeting Could Pave the Way”; Hereditary Neuropathy Foundation, “Big News for the CMT-SORD Community.” ↩︎
4. Liu et al., “Phase III Clinical Trial of PXT3003.” The trial is registered as NCT05092841. ↩︎
5. Néovacs, “Nouvelle publication scientifique.” ↩︎
6. Helixmith, “Safety and Tolerability of Engensis,” NCT05361031. ↩︎

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