Date of Award

1-2025

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

Adrian Kerrihard

Committee Member

Joseph Hacia

Committee Member

David Lapidus

Abstract

Peroxisomal disorders (PD) are rare, debilitating, genetic diseases that affect multiple organ systems and present with broad clinical heterogeneity. Many studies have characterized the overall clinical presentation of PD, but it is not clear which symptoms have the biggest impact on patients’ daily lives and what these specific impacts are. Given the heterogeneous and multi-system nature of PD, understanding these impacts is crucial in the determination of meaningful clinical outcomes to evaluate in clinical trials for the treatment of PD. In this mixed methods study, we collected data on symptoms and impacts of PD in multiple phases as part of an Externally-Led Patient-Focused Drug Development effort for peroxisomal disorders. Data was collected from patients and caregivers of patients diagnosed with a peroxisomal disorder via focus groups, interviews, surveys, a large-group town hall meeting and then subsequently analyzed. Our data found that on average, patients with PD experience 11-12 symptoms at one time. According to patients and caregivers, sensory impairment, mobility symptoms related to low muscle tone as well as intellectual disability were the most impactful symptoms of PD by affecting independent activity, communication and social interactions, school/ work performance, executive functioning and everyday health, and hospitalizations/medical interventions. Comparative analysis across different demographics indicated differences in the impact of symptoms and specific impacts of the PD between living and deceased patients and very few differences in impacts and symptoms between older and younger patients. This information can act as a framework in informing potential future treatment development to target the symptoms that most impact the day to day lives of patients with peroxisomal disorders.

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