Big News for the CMT-SORD Community
Updates from HNF’s TRIAD Partner, Applied Therapeutics
In a newly released press release, Applied Therapeutics—a valued HNF TRIAD partner—shared exciting progress in the development of treatments and diagnostics for CMT-SORD, a rare and often under diagnosed form of Charcot-Marie-Tooth disease.
Treatment Progress: Govorestat Heads Toward FDA Review
Applied Therapeutics is preparing to meet with the FDA this quarter to discuss the next steps toward a potential approval of Govorestat, a treatment developed specifically for people living with CMT-SORD.
At the Peripheral Nerve Society 2025 Annual Meeting, new data from their INSPIRE trial showed that Govorestat slowed the progression of the disease, improved mobility, and was well-tolerated by participants.
Free Urine Testing for CMT-SORD Now Available
To help more individuals get diagnosed, Applied Therapeutics has launched a FREE urine-based Sorbitol Assay to identify potential cases of CMT-SORD.
Want to learn more? Contact HNF for details on how to access this free testing.
Email us at in**@******re.org.
More Rare Disease Research on the Horizon
Applied Therapeutics is also advancing work on:
- PMM2-CDG, with new data to be presented this October at the American Society of Human Genetics (ASHG) Annual Meeting
- Classic Galactosemia, with continued regulatory discussions underway
HNF’s TRIAD (Therapeutic Research in Accelerated Discovery) program brings together patient voices, researchers, and industry leaders like Applied Therapeutics to fast-track treatments for rare diseases like CMT.
Click here to read the full press release.
Thank you for being part of this journey.
Together, we’re turning hope into action.
Hi,
I am writing as a person diagnosed with Charcot–Marie–Tooth disease caused by SORD deficiency.
My understanding of the condition, based on the published literature, is that the disease mechanism is driven by pathological accumulation of sorbitol due to impaired sorbitol dehydrogenase activity. Most information provided by CMT organisations and current research communications focuses almost exclusively on pharmacological inhibition of aldose reductase as a therapeutic strategy.
What I am struggling to understand—and have been unable to find clear answers to—is why dietary approaches are not meaningfully discussed or studied in parallel.
Specifically:
• Given that sorbitol accumulation is directly linked to glucose flux through the polyol pathway, why are dietary strategies aimed at reducing glucose availability or glucose spikes (for example low-carbohydrate, ketogenic, or low–glycaemic load diets) not being investigated or at least discussed?
• Are there existing studies, pilot trials, or observational data examining dietary modification in SORD-related neuropathy, and if so, why are these not communicated through patient-facing organisations?
• If no such studies exist, is this due to scientific reasons (e.g. lack of expected efficacy, methodological limitations), or practical reasons (e.g. funding priorities, difficulty standardising diet interventions)?
As a patient, it is difficult not to notice that pharmacological approaches—particularly those with commercial potential—receive far greater attention than non-pharmacological interventions that may be lower-cost but also lower-profit. I am not suggesting this is the case, but I would appreciate clarity on whether this plays any role in shaping current research priorities.
Living with a progressive neuropathy where disease-modifying options are limited is deeply frustrating. Clear, transparent communication about why certain avenues are pursued and others are not would be extremely valuable to patients trying to make informed decisions about their health today—not only at some future point when drug development is complete.
I would sincerely appreciate any explanation, references, or guidance you can provide, or being directed to publicly available material that addresses these questions.
Kind regards,
Paul
CMT patient (SORD deficiency)