CMTA partnered with Anatomic, Inc., to create new human iPSC derived CMT1A Schwann cell precursor assay, providing a valuable new cell-based platform for therapeutic evaluation.
Preclinical drug development for CMT1A, the most common CMT subtype caused by a duplication of PMP22, has long been constrained by the absence of scalable, human-relevant Schwann cell models, the cells most affected by the disease. Generating and validating CMT patient-derived cells represents a significant hurdle for any research program to overcome.
Preclinical drug development for CMT1A, the most common CMT subtype caused by a duplication of PMP22, has long been constrained by the absence of scalable, human-relevant Schwann cell models, the cells most affected by the disease. Generating and validating CMT patient-derived cells represents a significant hurdle for any research program to overcome.
To reduce this barrier to CMT research, the Charcot-Marie-Tooth Association’s Strategy To Accelerate Research (CMTA-STAR) Preclinical Toolbox partnered with Anatomic, Inc to develop human CMT1A iPSC-derived Schwann cell precursor cells and a new assay for PMP22 that can be used for drug screening. The assay uses qPCR and RNA scope to measure and visualize PMP22 levels in the 1A system and has been shown to be treatment responsive. Anatomic presented this work at the Society for Neuroscience Annual Meeting in November 2025.
The new CMT1A Schwann cell precursor cells provide direct access to a human cell system that reflects the actual CMT1A disease mechanism. For programs targeting PMP22 expression or Schwann cell biology, that starting point changes what is possible at the preclinical stage and how quickly a program can move.
A human-derived CMT1A model for drug development
“The CMTA-STAR Preclinical Toolbox was built to remove barriers to CMT drug development at the earliest stages,” said Katherine Forsey, PhD, CMTA Chief Research Officer. “A human-derived CMT1A Schwann cell precursor assay is a significant development. Both the FDA and NIH have emphasized use of cell-testing platforms over the past year. CMT1A research has needed a human cell system that reflects the actual disease mechanism, not a workaround. These cells open a new option to test whether a therapeutic approach works at the level of the biology that matters, PMP22 expression, before committing resources to animal studies or clinical programs.”
What is the CMTA-STAR Preclinical Toolbox?
The Toolbox is a comprehensive set of validated research tools for early-stage CMT drug development. It includes CMT patient-derived iPSC lines and controls across 7 CMT subtypes, as well as differentiated neurons, a CMT2A in vitro assay and now a Schwann cell precursor assay. The iPSC lines used to create cells for this new assay were created by CMTA through their long-term collaboration with JAX/NYSCF. The Toolbox also includes animal models across several subtypes that mimic CMT physiology, which is important for validating therapies before moving to clinical trials.
The Toolbox provides researchers with human-relevant disease models without the overhead of generating and validating them themselves. By providing standardized biological in vitro to in vivo resources, CMTA-STAR accelerates the path from candidate identification to translational readiness.
To discuss accessing the CMT1A Schwann cell precursor assays or other Toolbox resources, contact Stephen Lin, PhD, Director of R&D Alliances, at steve@cmtausa.org.
