Assessing health technology assessment (HTA) methodology and value frameworks to evaluate the cost-effectiveness of gene therapies (GTs) for rare diseases (RDs)

Farris, Maria

Assessing health technology assessment (HTA) methodology and value frameworks to evaluate the cost-effectiveness of gene therapies (GTs) for rare diseases (RDs)

Farris, Maria

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Publication Type:: Thesis
Issue Date:: 2025

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Field	Value	Language
dc.contributor.author	Farris, Maria
dc.date.accessioned	2026-05-03T23:36:35Z
dc.date.available	2026-05-03T23:36:35Z
dc.date.issued	2025
dc.identifier.uri	http://hdl.handle.net/10453/194871
dc.description	University of Technology Sydney. Faculty of Health.	en_US.UTF-8
dc.description.abstract	Therapies for rare diseases (RDs) now represent over 35% of newly approved drugs, with a growing shift towards precision medicines like gene therapies (GT)(1-3). Regulatory bodies expedite GT approval based on early-phase clinical trials, given their significant potential benefits for patients with degenerative conditions lacking other treatments(4). Countries employing health technology assessment (HTA) for healthcare funding decisions struggle with GT for RD evaluation due to the poor quality of clinical evidence, leading to increased uncertainty in decision-making(5-7). Further, experts in health economics suggest that HTA should consider and value GT on broader value elements that has impact beyond patients and the healthcare system(8, 9). Voretigene neparvovec (VN) is a GT for a RD, retinal pigment epithelium 65 kDa protein (RPE65) mutation-associated inherited retinal disease (IRD)(10-12). It offers possible societal benefits beyond the patient and the healthcare system. Using VN as a case study the research objectives were to 1) identify the challenges in the modelled economic evaluations (EEs) of VN and investigate whether broader elements of value were considered by reimbursement decision makers, 2) estimate the health-related quality of life (HRQoL) impact from vision impairment due to RPE65-mediated IRD, 3) detail the lifetime impact on caregivers of individuals with IRD and 4) explore the perspectives of Australian stakeholders regarding the consideration of broader elements of value in HTA in Australia. This research comprehensively evaluates HTA appraisals, highlighting challenges in evaluating EE’s and the importance of harmonising HTA guidelines globally to incorporate broader elements of value beyond mere cost-effectiveness. Combined, the research findings provide novel information for example the impact of IRD on patient HRQoL and caregiver burden. The research also concludes that reviewing the HTA decision-making criteria in Australia is necessary, as stakeholders support incorporating additional broad value elements into the HTA of all medicines (both rare and not rare) that extends beyond those outlined in current HTA guidelines. The research emphasises the importance of accounting for the broader societal and caregiver impacts, which are often overlooked, to accurately assess the value of GTs. Addressing these challenges through informed public policy and refined HTA guidelines will be crucial for substantiating the value of GT, expediting access to these innovative treatments, and extending these evaluation principles to non-GT and beyond RDs.	en_US.UTF-8
dc.format	Thesis (PhD)
dc.language.iso	en_US	en_US.UTF-8
dc.relation	https://opus.lib.uts.edu.au/bitstream/10453/194871/1/thesis.pdf
dc.rights	info:eu-repo/semantics/openAccess
dc.rights	The author owns the copyright in this thesis including all reproduction and reuse rights for the work. The work may not be altered without the permission of the copyright owner. Attribution is essential when quoting or paraphrasing from this thesis.
dc.rights	© 2025 Maria Farris
dc.rights	au.edu.uts.lib/cph
dc.title	Assessing health technology assessment (HTA) methodology and value frameworks to evaluate the cost-effectiveness of gene therapies (GTs) for rare diseases (RDs)	en_US.UTF-8
dc.type	Thesis
utslib.copyright.status	open_access	*

Abstract:

Therapies for rare diseases (RDs) now represent over 35% of newly approved drugs, with a growing shift towards precision medicines like gene therapies (GT)(1-3). Regulatory bodies expedite GT approval based on early-phase clinical trials, given their significant potential benefits for patients with degenerative conditions lacking other treatments(4). Countries employing health technology assessment (HTA) for healthcare funding decisions struggle with GT for RD evaluation due to the poor quality of clinical evidence, leading to increased uncertainty in decision-making(5-7). Further, experts in health economics suggest that HTA should consider and value GT on broader value elements that has impact beyond patients and the healthcare system(8, 9). Voretigene neparvovec (VN) is a GT for a RD, retinal pigment epithelium 65 kDa protein (RPE65) mutation-associated inherited retinal disease (IRD)(10-12). It offers possible societal benefits beyond the patient and the healthcare system. Using VN as a case study the research objectives were to 1) identify the challenges in the modelled economic evaluations (EEs) of VN and investigate whether broader elements of value were considered by reimbursement decision makers, 2) estimate the health-related quality of life (HRQoL) impact from vision impairment due to RPE65-mediated IRD, 3) detail the lifetime impact on caregivers of individuals with IRD and 4) explore the perspectives of Australian stakeholders regarding the consideration of broader elements of value in HTA in Australia. This research comprehensively evaluates HTA appraisals, highlighting challenges in evaluating EE’s and the importance of harmonising HTA guidelines globally to incorporate broader elements of value beyond mere cost-effectiveness. Combined, the research findings provide novel information for example the impact of IRD on patient HRQoL and caregiver burden. The research also concludes that reviewing the HTA decision-making criteria in Australia is necessary, as stakeholders support incorporating additional broad value elements into the HTA of all medicines (both rare and not rare) that extends beyond those outlined in current HTA guidelines. The research emphasises the importance of accounting for the broader societal and caregiver impacts, which are often overlooked, to accurately assess the value of GTs. Addressing these challenges through informed public policy and refined HTA guidelines will be crucial for substantiating the value of GT, expediting access to these innovative treatments, and extending these evaluation principles to non-GT and beyond RDs.

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