Assessment of gastrointestinal/feeding symptoms, impacts, and treatments in patients affected by peroxisomal disorders
Presentation Type
Abstract
Faculty Advisor
Mousumi Bose
Access Type
Event
Start Date
25-4-2025 10:30 AM
End Date
25-4-2025 11:29 AM
Description
Peroxisomal disorders (PD) are rare, genetic conditions that impact multiple organs. Gastrointestinal (GI) symptoms in PD often affect patients' overall health status. Many GI symptoms result in acute impacts, such as hospitalization. This study aims to characterize GI symptoms of PD patients and evaluate the efficacy of current GI treatments. This information will be useful for developing future treatments addressing GI needs in PD, and improve 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, which were subsequently 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. Over 60% of survey respondents reported patients being treated for GI symptoms and 35% being treated for bleeding issues. Both focus groups and facilitated discussion revealed limited effectiveness and multiple side effects in common GI treatments for PD. Many PD patients experience GI symptoms that impact daily living. Treatments for GI symptoms are common in PD patients, but have inadequate efficacy and various side effects. There is a need for more effective treatments for GI symptoms in PD to improve outcomes in patients' daily lives.
Assessment of gastrointestinal/feeding symptoms, impacts, and treatments in patients affected by peroxisomal disorders
Peroxisomal disorders (PD) are rare, genetic conditions that impact multiple organs. Gastrointestinal (GI) symptoms in PD often affect patients' overall health status. Many GI symptoms result in acute impacts, such as hospitalization. This study aims to characterize GI symptoms of PD patients and evaluate the efficacy of current GI treatments. This information will be useful for developing future treatments addressing GI needs in PD, and improve 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, which were subsequently 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. Over 60% of survey respondents reported patients being treated for GI symptoms and 35% being treated for bleeding issues. Both focus groups and facilitated discussion revealed limited effectiveness and multiple side effects in common GI treatments for PD. Many PD patients experience GI symptoms that impact daily living. Treatments for GI symptoms are common in PD patients, but have inadequate efficacy and various side effects. There is a need for more effective treatments for GI symptoms in PD to improve outcomes in patients' daily lives.
Comments
Poster presentation at the 2025 Student Research Symposium.