Attending the Peripheral Nerve Society (PNS) meeting in Maastricht for my fourth time as Chief Research Officer of CMTA was a striking reminder of how rapidly Charcot-Marie-Tooth disease (CMT) research is advancing, and how central CMTA-supported science has become to that progress.
PNS is one of the most important global meetings in peripheral nerve disorders, bringing together the full ecosystem of the field: basic scientists, translational researchers, clinicians, industry partners, and patient organizations like CMTA. It functions as the annual “state of the field” meeting, where early breakthroughs are shared, clinical trial approaches are refined, and emerging therapeutic strategies are tested across disciplines. For CMT, it is where biology meets clinical reality, and where the path from discovery to therapy becomes visible.
Patient-driven investments shape the scientific agenda for CMT
- 34 CMTA-funded research presentations in total
- 29 posters
- 6 platform
- Double that of NIH and eight times more than any other CMT research focused non-profit.
- 1 beautiful shout out to our neurotoxic medications review paper from the main stage.
- Over 1000 researchers, healthcare professionals and industry representatives in attendance.
What stood out this year was not only the pace of progress, but the visibility of CMTA’s impact across the meeting. CMTA was the major research funder represented across CMT and related neuropathy platform presentations, posters, and abstracts, with 34 contributions in total (double that funded by the NIH, and eight times more than any other CMT research focused non-profit). This statistic reflects the depth, coherence, and global reach of CMTA’s research portfolio, and the confidence placed in our funded investigators to shape the field at the highest level.
This matters because PNS is where the field sets direction. Platform presentations are highly competitive, selected from hundreds of abstracts, and highlight work considered particularly impactful or field-defining. Seeing CMTA-funded studies consistently included demonstrates that patient-driven investment is actively shaping the scientific agenda.
An active and growing CMT pipeline
Across the meeting, a clear thematic progression emerged: from biomarkers and outcome measures, through natural history and trial readiness, to therapeutic candidates moving into or through clinical development.
The advancement of biomarkers and digital outcome measures was a major thread. Katy Eichinger, PhD, DPT, presented CMTA-funded natural history data using digital gait and balance measures that are increasingly sensitive and scalable. Kayla Cornett, PhD, shared landmark data from more than 1,000 pediatric patients across multiple CMT subtypes, one of the largest datasets defining disease progression in children and a critical foundation for future trials.
CMTA Scientific Advisory Board Chair John Svaren presented a highly collaborative, CMTA-funded multi-center study across the Inherited Neuropathies Consortium, spanning sites in the US and Europe. Using a high-sensitivity plasma proteomics platform, the study identified elevated neurodegeneration-associated proteins, including tau species, across CMT cohorts. These findings support measurable peripheral signals of axonal and/or muscle pathology that are consistent across sites and subtypes, strengthening the case for scalable blood-based biomarkers for global clinical trial use.
These studies are not “preclinical” in the traditional sense, they are enabling infrastructure. Without robust natural history data and validated biomarkers, clinical trials cannot be designed or interpreted effectively. In this sense, CMTA-funded work is directly building the foundations for therapeutic development.
Translational studies explore cellular pathways, HDAC6 inhibition, CLC-1 inhibitors
The translational pipeline was equally evident in disease biology and drug development. CMTA-STAR Advisory Board Member Maurizio D’Antonio, PhD, presented work in CMT1B mapping disrupted cellular pathways and identifying therapeutic targets, now moving toward early intervention studies.
HDAC6 inhibition or deletion as a strategy to improve or rescue axonal transport, degeneration, motor and muscle function, gait and balance featured across several abstracts and multiple CMT subtypes. Anke Claessens, PhD, took to the stage to present work from the CMTA-funded D’Antonio lab highlighting the therapeutic potential in CMT2J. Work in the HDAC6 space has now translated into industry development with several companies looking to advance HDAC6 inhibitors into early clinical testing.
A late-breaking clinical presentation by David Herrmann, CMTA STAR Advisory Board member and clinical site PI, reported updated Phase 2 results from NMD Pharma ’s ClC-1 inhibitor, ignasclant. CMT community members supported study planning and recruitment for this trial through CMTA’s Patients as Partners in Research platform. Improvements in functional outcomes, including grip strength, provide encouraging evidence that enhancing neuromuscular transmission may offer meaningful benefit even without correcting the underlying genetic cause.
Nerve-muscle communication as a potential cross-subtype therapeutic strategy
This concept of improving nerve–muscle communication as a cross-cutting therapeutic strategy was reinforced by Albena Jordanova in her platform presentation, highlighting the neuromuscular junction as a shared vulnerability across CMT subtypes. This shift, from mutation-specific correction toward cross-subtype functional restoration, is increasingly shaping the field’s therapeutic direction.
Other key contributions reinforced clinical translation. A presentation by CMTA-STAR Advisory Board member Davide Pareyson, MD, “CMT: From Genes to Treatments,” contextualized current standard of care and highlighted a CMTA-commissioned review on toxic medications in CMT, reinforcing the need for evidence-based clinical guidance alongside therapeutic development.
CMTA’s commitment to training and capacity building was also evident through the INC Fellowship program. Bopha Chrea, MD, presented four posters detailing gait, balance, foot structure, and plantar loading in CMT. With over 300 feet analyzed, her work informs orthopedic decision-making, including surgical timing and the role of assistive devices, with direct relevance to pain, mobility, and fall risk.
CMT research is increasing integrated
Across all sessions, a unifying picture emerged: the field is increasingly integrated. Natural history studies feed biomarkers; biomarkers enable trials; trials test mechanistically grounded therapies; and therapies increasingly reflect shared biological pathways across CMT subtypes.
For CMTA, this coherence is the key message. Our presence at PNS promotes CMT visibility and demonstrates our impact. It shows that patient-funded research directed through CMTA’s Strategy to Accelerate Research is actively catalyzing progress across the full translational pipeline, from biology to clinical development.
Most importantly, this progress is not abstract. Each dataset, biomarker, and early clinical signal represents a step closer to meaningful treatments for people living with CMT. The pace of change in Maastricht made one thing clear: the field is moving, and CMTA-supported science is driving it forward.
If you have a plan for a CMT research project or clinical program that aligns with the strategy areas highlighted here, please reach out, for an informal discussion.
