Date of Award

5-2025

Document Type

Thesis

Degree Name

Master of Science (MS)

College/School

College for Community Health

Department/Program

Nutrition and Food Studies

Thesis Sponsor/Dissertation Chair/Project Chair

Mousumi Bose

Committee Member

Lauren Dinour

Committee Member

Nancy von Thun

Abstract

Peroxisomal disorders (PD) are rare genetic conditions that impact multiple organs. Gastrointestinal (GI) symptoms, including liver dysfunction and bleeding, often affect patients' health outcomes. Many GI symptoms result in acute impacts, such as hospitalization. Currently, limited treatments for PD exist, and there are few reports on the side effects of treatment. This study aims to characterize GI symptoms and impacts, determine efficacy and side effects of current treatments, and identify desired outcomes from future clinical trials. This information will help develop future treatments addressing GI needs in PD, improving the quality of life for patients. Data was collected from patients and caregivers as part of an Externally-Led Patient-Focused Drug Development effort for PD, specifically, focus groups, online surveys, facilitated discussion, and live polling from participants. Data was then analyzed for relevant themes and trends in responses. Among focus group discussions (n=42 participants), symptoms included those related to dentition, feeding, reflux, diarrhea, constipation, liver dysfunction, and bleeding. Online survey results (n=57) showed the most frequently reported GI symptoms impacting patients' daily lives were feeding challenges, other hypotonia-related GI issues, and liver dysfunction. Many PD patients experience chronic hospitalizations, progressive feeding issues, and difficulties with weight and nutritional status. Over 60% of survey respondents reported patients being treated for GI symptoms and 35% being treated for bleeding problems. Treatments for GI symptoms are common in PD patients, but feedback suggests enteral nutrition, cholic acid therapy, and bleeding treatments have inadequate efficacy and various side effects. Desired GI-related treatment outcomes for patients include improved liver function, reduced bleeding, and fewer feeding issues. Future clinical trials should consist of meaningful endpoints that address these symptoms that have direct impacts on nutrition, growth, and development.

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