# Digital Measures of Physical Activity, Gait and Balance in CMT (Project 3)

> **NIH NIH U54** · UNIVERSITY OF IOWA · 2021 · $238,972

## Abstract

SUMMARY: Charcot-Marie-Tooth disease (CMT) is a family of inherited peripheral neuropathies. CMT is
characterized by progressive weakness, imbalance, sensory loss, and gait abnormalities. Multiple promising
candidate therapies will be ready for human clinical trials within 5 years. We in the Inherited Neuropathies
Consortium Rare Disease Clinical Research Network (INC RDCRN) have defined the natural history of CMT1A
and this research continues in other CMT subtypes. The INC RDCRN has also led development of multiple,
clinical outcome assessments and patient-reported outcome measures for children and adults with CMT.
Individuals with CMT identify impairments in gait and balance as highly impacting their quality of life and therefore
therapeutic interventions that positively impact these functions are likely to be meaningful. In preparation for
clinical trials in CMT, some critical gaps in trial readiness must be urgently filled including precise knowledge of
real world physical activity in individuals with different types of CMT and the effect of disease progression on
physical activity. Sensitive biomarkers of gait and balance dysfunction are also needed for early phase trials to
detect signals of therapeutic effect. Research at INC sites using 3D motion analysis laboratories suggests that
gait parameters, including gait speed and stride length, are highly responsive to change in individuals with CMT.
3D motion analysis laboratories are however not viable for multicenter trials. Wearable technology including
activity monitors and inertial sensors is easily applied and suitable to measure physical activity, gait and balance
in multicenter studies involving children and adults. Clinical Research Project 3, “Wearable Sensor Measures for
Physical Activity, Gait and Balance in CMT”, addresses these gaps of clinical trial readiness. The aims of this
project include: (1) Characterization of real world function in CMT by measuring habitual physical activity of
children and adults with the most common genetic subtypes. (2) Validation of “digital biomarkers” of gait and
balance deficits in CMT by assessment of the reliability and responsiveness to change of wearable sensors. Dr.
J. Burns (U. Sydney) and Dr. K. Eichinger (U. Rochester) will co-lead this study. Drs. Burns, Pareyson, and V.
Ounpuu have extensive experience in quantitative gait analysis in CMT. Dr. Eichinger, T. Estilow and Dr.
Ramdharry have expertise in assessing physical activity, mobility and balance in CMT. Drs. Shy (INC RDCRN
PI, U. Iowa), Reilly (site PI, U. College of London), Scherer (site PI, U. Pennsylvania), Yum (Children’s Hospital
of Philadelphia), Ascadi (Connecticut Children’s Hospital) and Herrmann (Clinical Team Liason, site PI, U.
Rochester) have vast experience in clinical aspects and outcome measure development in CMT. This study
brings together a leading group of CMT investigators who have a long history of collaboration, and should yield
outcome measures that will have a...

## Key facts

- **NIH application ID:** 10254267
- **Project number:** 5U54NS065712-14
- **Recipient organization:** UNIVERSITY OF IOWA
- **Principal Investigator:** MICHAEL E. SHY
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $238,972
- **Award type:** 5
- **Project period:** 2009-09-30 → 2024-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10254267

## Citation

> US National Institutes of Health, RePORTER application 10254267, Digital Measures of Physical Activity, Gait and Balance in CMT (Project 3) (5U54NS065712-14). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10254267. Licensed CC0.

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