Subsets of patients with lysosomal storage disorders have different areas of concern regarding the prospect of gene therapy, according to a study published in the Orphanet Journal of Rare Diseases. 

Lysosomal storage disorders cover a wide spectrum of diseases numbering more than 60 in total. These include Gaucher disease, Fabry disease, mucopolysaccharidosis type III (MPS III), lysosomal acid lipase deficiency (LAL-D), and more. 

Enzyme replacement therapy, which has only been available in recent years, has revolutionized treatment in a number of lysosomal storage disorders. For example, patients with type 1 Gaucher disease on enzyme replacement therapy now have a near normal life expectancy with only minimal symptoms. In patients with Fabry disease, enzyme replacement therapy has been shown to arrest the development of renal disease. 

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As medical researchers look ahead, gene therapy is widely seen as the natural next step in the development of therapeutics to deal with lysosomal storage disorders, given that most of them are monogenic diseases. 

Read more about LAL-D etiology 

“The concept of gene therapy is to ameliorate the metabolic deficiency in target cells by introducing correct genetic material for the deficient enzyme,” the authors said. 

Given that gene therapy is a novel concept for many, the authors sought to understand the needs and expectations of various subsets of patients with lysosomal storage disorders (Gaucher disease type 1, Fabry disease, and MPS III) regarding the development of gene therapy. Because of the COVID-19 pandemic, researchers could only meet with patients and gather feedback online. They did so via 10 online focus group discussions, with a maximum of 5 participants per session. 

Nine patients with Gaucher disease type 1, 23 patients with Fabry disease, and 2 patients with MPS III (and 5 parents of pediatric patients with MPS III) were recruited for the study. 

The research team discovered that patients across all disease categories wanted to see gene therapy being developed as a definitive cure for lysosomal storage disorders in the future. However, patients differed with regard to whether they would be willing to choose gene therapy for themselves; among the areas of concern were the burden of gene therapy, risks and side effects, outcomes, the current manner in which patients coped with and perceived their disease, and ethical concerns. 

“This study illustrates the importance of involving patients or their representatives in early stages of treatment development and clinical trial design in order to ensure that developed treatments and outcomes meet patients’ needs,” the authors concluded. 


Eskes ECB, Beishuizen CRL, Corazolla EM, et al. Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative studyOrphanet J Rare Dis. 2022;17(1). doi:10.1186/s13023-022-02543-y