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The Perspective of People with Fabry Disease on Burden of Treatment Versus the Benefits of Treatment

Miller, Kaitlyn M
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528745

Abstract Details

2016, MS, University of Cincinnati, Medicine: Genetic Counseling.
Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase leading to accumulation of globotriaosylceramide (GL3) primarily in the vascular endothelium. This accumulation causes a variety of daily and long-term problems including gastrointestinal issues, depression, and chronic nerve, muscle, and joint pain. Long-term complications include heart disease, kidney failure, and stroke. The only FDA approved treatment for Fabry disease (other than symptomatic management) is biweekly enzyme replacement therapy (ERT). ERT is costly (greater than $200,000 per year on average), burdensome (IV infusions lasting 4-6 hours often at clinics far from home), has been associated with unpleasant infusion reactions, and has only been found to slow or delay onset of long-term complications. Consistent improvements in daily signs and symptoms of Fabry disease have not been observed. Several pharmaceutical companies are working to develop additional primary and/or adjunctive therapies to improve the safety, efficacy, and burden of treatment. Little research has been done on which factors influence the willingness of a patient with Fabry to follow a prescribed treatment plan. We developed a questionnaire based upon hypothetical scenarios to try to vet which factors most influence someone’s decision to begin treatment for Fabry disease and how much they are willing to do based upon various improvements. The questionnaire was distributed to adults with Fabry disease and parents/guardians of children with Fabry disease. Participants were recruited while attending the NFDF 2015 Annual Fabry Conference in North Carolina and from Cincinnati Children’s Hospital Medical Center. We present results based upon 45 completed questionnaires highlighting the factors that most influence an individual’s decision to start or continue a treatment plan for his/herself or their child. Factors that appear to have the most influence include improvement in long-term complications and cost.
Robert Hopkin, M.D. (Committee Chair)
Laurie Bailey, M.S. (Committee Member)
Lisa Berry, M.S.C.G.C. (Committee Member)
Valentina Pilipenko, Ph.D. (Committee Member)
51 p.
Genetics
Enzyme replacement therapy; Oral therapy; Combination therapy; efficacy; treatment burden

Recommended Citations

Citations

  • Miller, K. M. (2016). The Perspective of People with Fabry Disease on Burden of Treatment Versus the Benefits of Treatment [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528745

    APA Style (7th edition)

  • Miller, Kaitlyn. The Perspective of People with Fabry Disease on Burden of Treatment Versus the Benefits of Treatment. 2016. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528745.

    MLA Style (8th edition)

  • Miller, Kaitlyn. "The Perspective of People with Fabry Disease on Burden of Treatment Versus the Benefits of Treatment." Master's thesis, University of Cincinnati, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528745

    Chicago Manual of Style (17th edition)

ucin1459528745
240
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This open access ETD is published by University of Cincinnati and OhioLINK.