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Dang Do – Zampieri – Matsubara – 2024

Mentor: An Ngoc Dang Do, MD PhD | an.dangdo@nih.gov
Lab
Unit on Cellular Stress in Development and Diseases
NICHD
Mentor: Cris Zampieri, PhD, PT | zampierigallac@nih.gov
Lab
Neurorehabilitation and Biomechanics Research Section, Rehabilitation Medicine Department
CC
Mentor: Jesse Matsubara, PT, DPT | jesse.matsubara@nih.gov
Lab
Unit on Cellular Stress in Development and Diseases, NICHD; Neurorehabilitation and Biomechanics Research Section, Rehabilitation Medicine Department, CC
CC

Balance and Gait Assessment of Individuals with CLN3 Disease

CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis or Batten disease) is a rare, fatal, pediatric, genetic disorder affecting lysosomes that leads to blindness and deterioration of neurons. Symptoms of CLN3 include progressive vision loss, cognitive decline, and impaired motor control. Quantitative measures of symptoms are important to assess accurately the natural course of disease progression and the effectiveness of proposed interventions. Measures with functional relevance such as evaluation of gait and balance have additional significance as they impact daily life.  We are currently building a collection of motor function data in untreated individuals with CLN3, and those on an early-stage research drug trial. 

As part of a larger observational natural history study, we are collecting repeated observations of two motor measures on a cohort of individuals with CLN3. First, we measure static standing balance using wearable sensors. Wearable sensors allow us to quantify various kinematic features such as the acceleration and path of postural sway. Second, we measure gait with the standardized 6-minute walk test, a general test of functional gait ability and endurance. 

The summer intern will work with physicians and scientists in both the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the Neurorehabilitation and Biomechanics (NAB) Lab in the National Institutes of Health Clinical Center. The intern will be involved in project activities to:

  • Analyze postural sway data from wearable sensors.
  • Analyze gait speed on the 6 minute walk test.
  • Correlate postural sway and gait speed with clinical markers of disease progression.
  • Observe and participate in clinical and biomechanical evaluations of individuals with CLN3 disease.
  • Develop hypotheses about the utility of balance and gait speed for measuring disease progression and intervention effectiveness in individuals with CLN3 disease.

The project aim is to provide the intern with the opportunities to learn about translational research and clinical application of biomechanics methodology in evaluating a complex human disease.