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
Yeon Bai
Committee Member
William Rizzo
Abstract
Peroxisomal disorders (PD) are rare multisystemic disorders that often require a combination of multiple treatments to manage a wide range of symptoms due to the fragmented nature of the disease. This study aims to evaluate the quantity of treatments currently used in the management of PD symptoms, determine the efficacy and effectiveness of these current treatments and evaluate the adverse effects related to these current treatments. Data were obtained from patients and caregivers feedback as part of an Externally-Led Patient-Focused Drug Development initiative for PD. Focus groups, interviews, an online survey and patient focused town hall meeting in coordination with the Global Foundation for Peroxisomal Disorders (GFPD) were implemented to gather data using a mixed methods approach. Qualitative and quantitative data were both collected from these sources. Both the focus groups discussions and facilitated discussions revealed the limited effectiveness of no effect of current treatments in treating symptoms caused by PD. The online survey showed a mean of 13.4±1.3 total treatments were used per patient. Qualitative findings consistently showed that except for adrenal insufficiency, most treatments were ineffective in managing symptoms. Additionally, significant treatment-related adverse effects were reported across symptom categories, seizure medications demonstrated side effects including drowsiness, behavioral abnormalities and respiratory suppression, and liver treatment such as cholic acid therapy (Cholbam) also indicated notable concerns. These findings emphasise the critical need for more effective treatments with tolerable or no side effects resulting from these treatments. This research may be useful in guiding future patient-centered clinical trials and treatment advancements for PD taking into account the trade offs they are willing to make to obtain an effective treatment for the PD community to improve the quality of life for individuals diagnosed with PD.
File Format
Recommended Citation
Fontes, Nicole, "Evaluating Treatment Outcomes in Peroxisomal Disorders" (2025). Theses, Dissertations and Culminating Projects. 1551.
https://digitalcommons.montclair.edu/etd/1551