2024 Helen Walker Research Grant Award
Boston Children's Hospital, Harvard Medical School | Jaymin Upadhyay, PhDSupporting research aimed at improving at-home functional biomarkerA measurable sign in the body that helps track disease progression or treatment response. More assessment for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
Quick Facts
Year Awarded:
2024
Funding Amount:
$150,000
Lead Investigator:
Jaymin Upadhyay, PhD
Institution:
Boston Children’s Hospital, Harvard Medical School
Research Focus:
Clinical outcomes and digital health monitoring
Status:
Ongoing
Project Title
Implementation of At-Home Functional BiomarkerA measurable sign in the body that helps track disease progression or treatment response. More Methods in Patients with Pompe DiseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More
Project Snapshot
In 2024, the AMDA awarded the Helen Walker Research Grant to Jaymin Upadhyay, PhD, at Boston Children’s Hospital, Harvard Medical School, to support a project focused on developing at-home biomarkerA measurable sign in the body that helps track disease progression or treatment response. More methods for individuals with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. The project centers on identifying non-invasive approaches to monitor muscle health, motor function, speech, cognition, and respiratory function.
The research aims to validate a set of at-home assessments that can be used longitudinally to track disease progression and treatment response. Using a combination of wearable and portable technologies, clinical testing methods, and patient-reported measures, the study is designed to improve accessibility and frequency of monitoring in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
Research Objectives
The project aimed to address several key questions related to treatment outcomes in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More:
1. Identifying at-home methods to longitudinally monitor muscle health, (fine-)motor performance, and respiratory function
Researchers will evaluate wearable and portable technologies capable of tracking changes in muscle strength, fine- and gross- motor performance, and respiratory function outside of a clinical setting. Assessments will be administered to individuals with both infantile-onset Pompe disease (IOPD)A severe form of Pompe disease that begins in infancy and often affects the heart and muscles. More and late-onset Pompe disease (LOPD)A form of Pompe disease that begins after infancy and usually progresses more slowly. More, with the goal of identifying tools that are sensitive enough to detect meaningful change over time and feasible for repeated use in the home environment.
2. Identify at-home methods to longitudinally monitor speech production and cognitive performance
The study will evaluate digital and portable assessment tools designed to capture changes in speech productionThe ability to form and articulate words. More and cognitive functionMental abilities such as memory, attention, and thinking. More in individuals with IOPDA severe form of Pompe disease that begins in infancy and often affects the heart and muscles. More and LOPDA form of Pompe disease that begins after infancy and usually progresses more slowly. More. Because these domains are not routinely measured in standard clinical visits, this objective aims to establish reliable, accessible approaches that can be used frequently and independently by patients, providing a more complete picture of disease progression across multiple symptom areas.
3. Identify at-home methods to longitudinally monitor bulbar functioning
Researchers will assess the feasibility and viability of at-home tools for monitoring bulbar functionFunctions involving muscles of the face and throat, including swallowing, speaking, and chewing. More — including swallowing and oral motor control — in individuals with IOPDA severe form of Pompe disease that begins in infancy and often affects the heart and muscles. More and LOPDA form of Pompe disease that begins after infancy and usually progresses more slowly. More. Bulbar involvement can significantly affect quality of life and nutritional health, yet it is often under-monitored between clinic visits. This objective seeks to identify measurement approaches that can capture changes in bulbar functioningFunctions involving muscles of the face and throat, including swallowing, speaking, and chewing. More with sufficient sensitivity to support clinical decision-making and treatment evaluation.
Why This Matters
Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More leads to a range of motor, cognitive, and respiratory impairments that can be difficult to monitor consistently over time. Current evaluation methods, such as in-clinic testing and imaging, may not be accessible or feasible for all individuals. This research aims to improve disease monitoring by developing flexible, at-home biomarkerA measurable sign in the body that helps track disease progression or treatment response. More tools that can capture changes in multiple symptom domains. More accessible and frequent assessment may support earlier intervention, improved treatment decisions, and a better understanding of disease progression in individuals living with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
Research Team
Institution
Boston Children’s Hospital, Harvard Medical School, United States
Lead Investigator
Jaymin Upadhyay, PhD
Assistant Professor
Co-Investigators
Raquel van Gool, MSc
Benjamin Goodlett, PhD
Julie Shulman, PhD
Walla Al-Hertani, MD
Seward Rutkove, MD
Buket Sonbas Cobb, PhD
Adam Vogel, Phd
Lead Investigator
Jaymin Upadhyay, PhD
Assistant Professor
Co-Investigators
Raquel van Gool, MSc
Benjamin Goodlett, PhD
Julie Shulman, PhD
Walla Al-Hertani, MD
Seward Rutkove, MD
Buket Sonbas Cobb, PhD
Adam Vogel, Phd
Grant Support
The AMDA awarded $150,000 through the Helen Walker Research Grant to support this project.
Funding supported partial salary support for a post-doctoral trainee; acquisition of at-home testing equipment, including electrical impedance myography systems, tablets, dynamometers, and assessment tools; disposable sensors and testing materials; digital licenses for data acquisition and analysis platforms; study participant remuneration; cloud-based data storage and computing services; publication costs; travel support for study implementation and dissemination; and shipping of study kits to and from participant homes.
Publications Resulting from This Research
This section will be updated as we collect more information about publications resulting from this research.
Related Outputs
This section will be updated as we collect more information about presentations, follow-up studies, or related outputs from this project.
Ongoing Impact
Research supported by the Helen Walker Research Grant helps build knowledge that can shape future studies, clinical care, and treatment strategiesA planned approach to managing disease that may include medicines, monitoring, supportive care, and ... More in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. As additional publications, presentations, and follow-up work emerge, this page will continue to be updated.
About the Helen Walker Research Grant
The Helen Walker Research Grant honors Helen Walker, a dedicated patient advocateA person who helps patients and families navigate care, information, services, and support. More and leader in the Pompe community. Through this grant, the AMDA supports innovative research aimed at improving understanding, treatment, and care for individuals living with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
Explore more Helen Walker Research Grant awardees and the growing body of Pompe research supported by the AMDA.