Grant to Help Researchers Develop Better Methods to Assess Gait

Patricia Inacio, PhD avatar

by Patricia Inacio, PhD |

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The Foundation for Angelman Syndrome Therapeutics (FAST) has awarded researchers with a grant to develop novel methods to accurately assess gait and mobility across age groups in patients with Angelman syndrome.

The research project is led by Jill L. Silverman, PhD, at the University of California, Davis, and Jessica Duis, MD, at the Children’s Hospital Colorado.

Movement impairment affects nearly all Angelman patients, with the most common symptoms being spasticity (tight or stiff muscles), loss of movement control (ataxia), tremor, and muscle weakness. With time, patients might develop a crouched gait which can lead to a significant decline in mobility.

Current tests for assessing mobility, such as the 6-minute walking test or the 4-stair climbing test, are not rigorous enough and are highly dependent on the patient’s motivation at the time of the test. Moreover, these tests only evaluate patients at a single timepoint in a controlled environment, failing to address gait changes over time. Patients also need to travel to clinics to perform these tests, which may result in anxiety associated with unfamiliar environments.

While motor impairments are also observed in mouse models of Angelman syndrome, current mobility tests used in animal models cannot be easily translated to humans. As such, novel methods are necessary to provide a more accurate evaluation.

The grant will allow researchers to assess the accuracy of sensor-based gait tests, in humans and animal models of Angelman, and explore how gait changes occur throughout different developmental stages.

The researchers will test cutting edge sensor technology, namely the DigiGATE, an imaging software used to evaluate rodent movement, and the ActiMyo, a wearable brace-anklets that collects motor metrics from upper and lower limbs. Additional tests include lab metrics for gait via treadmills and 3D motion, and the Zeno walkway device — a pressurized walkway system that connects to a computer and collects data on gait and balance.

The tests will be conducted in 40 Angelman patients across all genetic subtypes of the disease, as well as in two different mouse models of the disease.

“By increasing the number of relevant, innovative, in vivo functional outcome measures in our wheelhouse, we will create more opportunities for identifying and moving forward successful medical interventions where we have accurate ways to assess motor improvements over time,” according to a FAST press release.