Home-based service for enzyme replacement therapy in lysosomal storage disorders: patient reported outcomes

Background: Lysosomal storage diseases (LSDs) are a heterogeneous group of rare chronic genetic conditions. The standard-of-care treatment for LSDs is hospital-based infusion of enzyme replacement therapy (ERT), however, over time this can be stressful and inconvenient. The Italian TuTor program, established in 2011 by Sanofi Genzyme, is a professional nursing service providing home-based ERT to patients with LSDs.Objectives: The current questionnaire-based study was conducted to investigate the level of patient satisfaction with theTuTor program and to shed light on disease perception.Methods: Patients were enrolled in the TuTor program from 2011 onwards. The first 100 patients enrolled were interviewed at baseline with follow-up interviews conducted at 6, 12 and 18 months.Results: Overall, 52 patients were female; 46 had Gaucher’s disease, 46 had Fabry disease and 8 had mucopolysaccharidosis type 1. Patients took on average >2 hours to receive hospital-based ERT, plus time associated with the infusion; 2 out of 3 patients needed a caregiver to travel to the hospital. After receiving home-based ERT for 6 months, 37% of patients considered their quality of life ‘greatly improved’ (60% at 18 months). Overall, 99% to 100% of patients rated the home-based nursing service as ‘positive’ or ‘very positive’ and reported that they would recommend the service to other patients with their condition.Conclusions: For patients with LSDs eligible for ERT, a disease-specific home-based nursing service increased their perception of quality of life over a hospital-based service and was advantageous in terms of their time and expenditure.

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Effect of velmanase alfa (human recombinant alpha-mannosidase) enzyme-replacement therapy on quality of life and disease burden of patients with alpha-mannosidosis: Results from caregiver feedback

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2020.12.153 ◽

2021 ◽

Vol 132 (2) ◽

pp. S67

Author(s):

Allan Lund ◽

Nathalie Guffon ◽

Mercedes Gil-Campos ◽

Frederica Cattaneo ◽

Benedicte Heron ◽

...

Keyword(s):

Quality Of Life ◽

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Disease Burden ◽

Enzyme Replacement

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Enzyme Replacement Therapy for Genetic Disorders Associated with Enzyme Deficiency

Current Medicinal Chemistry ◽

10.2174/0929867328666210526144654 ◽

2021 ◽

Vol 28 ◽

Author(s):

Marialaura Marchetti ◽

Serena Faggiano ◽

Andrea Mozzarelli

Keyword(s):

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Rare Diseases ◽

Mammalian Cells ◽

Metabolic Diseases ◽

Genetic Disorders ◽

Life Quality ◽

Lysosomal Storage Diseases ◽

Lysosomal Storage ◽

Enzyme Replacement

: Mutations in human genes might lead to loss of functional proteins, causing diseases. Among these genetic disorders, a large class is associated with the deficiency in metabolic enzymes, resulting in both an increase in the concentration of substrates and a loss in the metabolites produced by the catalyzed reactions. The identification of therapeutic actions based on small molecules represents a challenge to medicinal chemists because the target is missing. Alternative approaches are biology-based, ranging from gene and stem cell therapy, CRISPR/Cas9 technology, distinct types of RNAs, and enzyme replacement therapy (ERT). This review will focus on the latter approach that since the 1990s has been successfully applied to cure many rare diseases, most of them being lysosomal storage diseases or metabolic diseases. So far, a dozen enzymes have been approved by FDA/EMA for lysosome storage disorders and only a few for metabolic diseases. Enzymes for replacement therapy are mainly produced in mammalian cells and some in plant cells and yeasts and are further processed to obtain active, highly bioavailable, less degradable products. Issues still under investigation for the increase in ERT efficacy are the optimization of enzymes interaction with cell membrane and internalization, the reduction in immunogenicity, and the overcoming of blood-brain barrier limitations when neuronal cells need to be targeted. Overall, ERT has demonstrated its efficacy and safety in the treatment of many genetic rare diseases, both saving newborn lives and improving patients’ life quality, and represents a very successful example of targeted biologics.

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