The Charcot-Marie-Tooth Association (CMTA), the world’s largest philanthropic funder of Charcot-Marie-Tooth disease (CMT) research, is proud to share that Kailee Ward, Genetic Counseling Assistant at CMTA’s Center of Excellence at the University of Iowa Hospitals and Clinics and Research Support Coordinator for the Inherited Neuropathy Consortium (INC), working with a global team of researchers, has published a major study in Brain, one of the most respected journals in neurology.
Drawing from clinical data provided by 50 individuals with PMP22 sequence variants, the underlying cause of CMT1E, the study revealed important patterns linking specific genetic mutations to symptom severity and progression over time. These findings wouldn’t be possible without the contributions of the patients and families who made this research possible.
This publication is the latest product of the CMTA-INC Alliance, a strategic partnership between the Charcot-Marie-Tooth Association (CMTA) and the Inherited Neuropathy Consortium (INC), created to accelerate clinical research and trial readiness in CMT. Through this collaboration, researchers, clinicians, and patient communities are working together to drive progress that leads to real impact.
CMT1E affects a relatively small number of individuals, but for those families, the impact can be profound. Symptoms often begin early and vary widely from person to person. Until now, there has been little comprehensive data to explain why.
The study analyzed clinical information from 50 people with PMP22 sequence variants, including 48 with a confirmed CMT1E-causing variant, all enrolled through INC clinical research sites. The team explored how different types of gene mutations in the PMP22 gene relate to specific symptoms in CMT1E, including the age at which someone learns to walk, how their symptoms progress over time, and how severely they are affected.
A New Tool for Tracking Progression
One of the study’s key contributions is a new progression index. This model uses walking milestones, age, and clinical scores to help researchers and clinicians better understand how quickly symptoms may appear or worsen.
The findings show that some genetic changes in the PMP22 gene are closely tied to early and severe symptoms, while others may lead to milder disease. This knowledge provides a stronger foundation for counseling families, designing clinical trials, and improving care strategies.
From Clinic to Bench to Breakthrough
As both a research coordinator and genetic counseling assistant, Kailee brings a unique perspective to her work. Her role at the University of Iowa’s CMTA Center of Excellence places her directly alongside patients and families, while her INC responsibilities connect her to the broader research network that made this study possible.
Kailee also presented this research at the 2025 PNS Annual Meeting in Edinburgh, UK, where it was recognized for both its scientific value and its relevance to clinical care.
Celebrating Progress
This publication reflects more than just a scientific breakthrough. It shows what’s possible when patients, researchers, and clinicians work side by side.
“This study is a shining example of what the CMTA-INC Alliance was built to do: connect research with real-world patient experience to accelerate progress,” said Katherine Forsey, PhD, CMTA Chief Research Officer. “Kailee and her team’s work reflects the power of collaboration, the importance of early-career scientists, and the essential role that every person living with CMT plays in driving research forward.”
“This research study has greatly deepened my understanding of the complexities of genetics, the critical role of early clinical intervention, and the value of collaboration among researchers,” said study lead author Kailee Ward. “Most importantly, it has strengthened my dedication and passion for working with individuals and support systems affected by CMT. I am profoundly grateful for this opportunity and for all I’ve learned from the CMT patient community through their resilience, advocacy, and commitment to research.”
CMTA congratulates Kailee and the entire INC team on this important publication. We’re proud to support the research and relationships that make discoveries like this possible.
Published on: June 17, 2025