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. 2022 Oct 21;17(1):383.
doi: 10.1186/s13023-022-02543-y.

Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study

Eline C B Eskes  1   2 , Cathrien R L Beishuizen  3 , Eleonore M Corazolla  1   2   4 , Tessa van Middelaar  5 , Marion M M G Brands  2   6 , Hanka Dekker  7 , Erica van de Mheen  8 , Mirjam Langeveld  1   2 , Carla E M Hollak  1   2 , Barbara Sjouke  9   10
Affiliations

Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study

Eline C B Eskes et al. Orphanet J Rare Dis. .

Abstract

Introduction: Several new treatment modalities are being developed for lysosomal storage disorders (LSDs), including gene therapy. As the currently available treatment options and their influence on disease progression differ greatly within the spectrum of LSDs, willingness to undergo gene therapy might vary among patients with LSDs and/or their representatives. The width of the LSD spectrum is illustrated by the differences between type 1 Gaucher disease, Fabry disease and Mucopolysaccharidosis type III (MPS III). For type 1 Gaucher and Fabry disease several therapies are available, resulting in a near normal or improved, but individually varying, prognosis. No treatment options are available for MPS III.

Aim: To identify factors influencing patients' and/or their representatives' decisions regarding undergoing gene therapy.

Methods: Focus group discussions and semi-structured interviews were conducted with patients with type 1 Gaucher disease, Fabry disease and MPS III. Parents of MPS III patients were included as patients' representatives.

Results: Nine Gaucher patients, 23 Fabry patients, two adult MPS III patients and five parents of MPS III patients participated in the study. The five main themes that arose were: outcome of gene therapy, risks and side effects, burden of gene therapy treatment, current situation and ethical aspects. Participants' views ranged from hesitance to eagerness to undergo gene therapy, which seemed to be mostly related to disease severity and currently available treatment options. Severe disease, limited treatment options and limited effectiveness of current treatment augmented the willingness to choose gene therapy. Gaucher and Fabry patients deemed the burden of treatment important. Fabry and MPS III patients and parents considered outcome important, suggesting hope for improvement. When asked to rank the factors discussed in the focus group discussions, Gaucher patients ranked outcome low, which could indicate a more cautious attitude towards gene therapy.

Conclusion: This study underlines the importance of exploring patients' needs and expectations before using limited resources in the development of therapies for patient groups of which a significant subset may not be willing to undergo that specific therapy.

Keywords: Fabry disease; Focus group discussions; Gaucher disease type 1; Gene therapy; Lysosomal storage diseases; Mucopolysaccharidosis type III; Qualitative research.

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Conflict of interest statement

CB, EC, TM, HD, and EM have nothing to disclose. EE is involved as a sub-investigator in a pre-marketing study with Sanofi Genzyme. MB was a sub-investigator in the Lysogene gene therapy study for MPS III (NCT02053064). ML and CH are involved in premarketing studies with Sanofi-Genzyme, Protalix and Idorsia. BS is involved in a premarketing study with Protalix.

Figures

Fig. 1
Fig. 1
Coding in MAXQDA. On the left the transcript of one of the focus groups discussions and the codes that were derived from the text. On the right the coding tree with subthemes that are grouped into themes
Fig. 2
Fig. 2
Ranking of themes by Gaucher patients, Fabry patients and MPS III patients and parents. Participants were asked to rank the factors that arose in their discussion group or interview from most influencing to least influencing the decision whether to undergo gene therapy. These factors were assigned to one of the five themes. A high ranked theme means participants attributed a lot of influence to the factors making up that theme
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References

    1. Moro E. Lysosomal storage disorders: molecular basis and therapeutic approaches. Biomolecules. 2021;11(7):964. doi: 10.3390/biom11070964. - DOI - PMC - PubMed
    1. Hollak CE, Lachmann R. Inherited metabolic disease in adults: a clinical guide. Oxford: Oxford University Press; 2016.
    1. Leal AF, Espejo-Mojica AJ, Sanchez OF, Ramirez CM, Reyes LH, Cruz JC, et al. Lysosomal storage diseases: current therapies and future alternatives. J Mol Med (Berl) 2020;98(7):931–946. doi: 10.1007/s00109-020-01935-6. - DOI - PubMed
    1. Hollak CE, Wijburg FA. Treatment of lysosomal storage disorders: successes and challenges. J Inherit Metab Dis. 2014;37(4):587–598. doi: 10.1007/s10545-014-9718-3. - DOI - PubMed
    1. Zimran A, Elstein D. Management of Gaucher disease: enzyme replacement therapy. Pediatr Endocrinol Rev. 2014;12(Suppl 1):82–87. - PubMed