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Discontinuing Enzyme Replacement Therapy in Patients with Lysosomal Storage Diseases due to Significant Clinical Decline

Kim, A Rang, M.S.
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396522371

Abstract Details

2014, MS, University of Cincinnati, Medicine: Genetic Counseling.
Enzyme replacement therapy (ERT) is considered the most effective and promising treatment for patients with lysosomal storage diseases (LSDs). Since ERT has been available for a relatively short amount of time, scientific focus has been on how effectively the replacement enzyme works. Few studies have discussed discontinuing ERT and those that have focus on the clinical effects of discontinuation. The purpose of this study was to learn the experiences, thoughts, attitudes, and reported behaviors of healthcare providers related to discontinuation of ERT in patients with severe forms of LSDs who experience significant clinical decline. Moreover, this study assessed how healthcare providers define significant clinical decline in this patient population. A survey was sent out to healthcare professionals through the Metab-L and the National Society of Genetic Counselors’ (NSGC) listservs. A total of 81 responses were used in the final analysis. The most commonly selected feature describing significant clinical decline was persistent vegetative state (58/74; 78.38%). Cognitive decline was a factor as well, especially when comparing two hypothetical patient scenarios that were provided. One quarter of participants had previously recommended discontinuing ERT due to significant clinical decline with nearly 90% of families actually opting to discontinue. Recommending discontinuation of ERT correlated with healthcare providers’ number of years of experience and genetic counselors were less likely to discuss the option with the patient/family compared to the physician population. One of the reasons that genetic counselors listed for this was that recommending discontinuation of therapy was outside their scope of practice. In conclusion, there are healthcare providers discussing the option of discontinuing ERT in cases with significant clinical decline, especially those with more years of experience. Persistent vegetative state and cognitive decline play a role when considering discontinuation of the therapy, though decision should always come with full involvement of the patient and family as well as healthcare team. The roles of genetic counselors in this situation need to be considered in light of their organizational situation and the definition of genetic counseling developed by the NSGC.
John Lynch, Ph.D. (Committee Chair)
Lisa Berry, M.S.C.G.C. (Committee Member)
Martha Walker, M.S. C.G.C. (Committee Member)
47 p.
Genetics
Enzyme replacement therapy; Discontinuing enzyme replacement therapy; Lysosomal storage diseases; Significant clinical decline; Genetic counseling

Recommended Citations

Citations

  • Kim, A. R. (2014). Discontinuing Enzyme Replacement Therapy in Patients with Lysosomal Storage Diseases due to Significant Clinical Decline [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396522371

    APA Style (7th edition)

  • Kim, A Rang. Discontinuing Enzyme Replacement Therapy in Patients with Lysosomal Storage Diseases due to Significant Clinical Decline. 2014. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396522371.

    MLA Style (8th edition)

  • Kim, A Rang. "Discontinuing Enzyme Replacement Therapy in Patients with Lysosomal Storage Diseases due to Significant Clinical Decline." Master's thesis, University of Cincinnati, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396522371

    Chicago Manual of Style (17th edition)

ucin1396522371
316
© 2014, all rights reserved.
This open access ETD is published by University of Cincinnati and OhioLINK.