Abstract
BackgroundLysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifestations and severity. Treatment options, such as enzyme replacement therapy (ERT), substrate replacement therapy, and pharmacological chaperone therapy, are available for several LSDs, including Gaucher disease (GD), Fabry disease (FD), and Hunter syndrome (mucopolysaccharidosis type II [MPS II]). However, patients in some countries face challenges accessing treatments owing to limited availability of locally licensed, approved drugs.MethodsThe Takeda LSD Charitable access program aims to meet the needs of individuals with GD, FD or MPS II with the greatest overall likelihood of benefit, in selected countries, through donation of ERT to nonprofit organizations, and support for medical capacity-building as well as family support via independent grants. Long-term aims of the program are to establish sustainable healthcare services delivered by local healthcare providers for patients with rare metabolic diseases. Patients receiving treatment through the program are monitored regularly, and their clinical data and progress are reviewed annually by an independent medical expert committee (MEC). The MEC also selects patients for enrollment completely independent from the sponsoring company.ResultsAs of 31 August, 2019, 199 patients from 13 countries were enrolled in the program; 142 with GD, 41 with MPS II, and 16 with FD. Physicians reported improvements in clinical condition for 147 (95%) of 155 patients with follow-up data at 1 year.ConclusionsThe response rate for follow-up data at 1 year was high, with data collected for > 90% of patients who received ERT through the program showing clinical improvements in the majority of patients. These findings suggest that the program can benefit selected patients previously unable to access disease-specific treatments. Further innovative solutions and efforts are needed to address the challenges and unmet needs of patients with LSDs and other rare diseases around the world.
Highlights
Lysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifesta‐ tions and severity
Once a patient is enrolled in the program, enzyme replacement therapy (ERT) will be maintained life-long, provided the patient is benefiting from ERT, or until the therapy can be provided by the local healthcare system and reimbursement is possible
Patient monitoring and long‐term follow‐up Once treatment is initiated, regular monitoring and follow-up are strongly recommended to ensure that patients are responding appropriately to treatment; for this reason, patients must receive treatment at the clinic as needed for infusions and undergo routine blood tests to continue in the program
Summary
Lysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifesta‐ tions and severity Treatment options, such as enzyme replacement therapy (ERT), substrate replacement therapy, and pharmacological chaperone therapy, are available for several LSDs, including Gaucher disease (GD), Fabry disease (FD), and Hunter syndrome (mucopolysaccharidosis type II [MPS II]). Lysosomal storage disorders (LSDs) are rare, complex conditions, the majority of which are caused by the intracellular accumulation of macromolecules due to the deficiency of a specific lysosome enzyme These disorders are characterized by a broad range of clinical manifestations, depending on the specific substrate and the sites. Treatment options, including enzyme replacement therapy (ERT), substrate reduction therapy (SRT), and pharmacological chaperone therapy (PCT), are available for several LSDs, including Gaucher disease (GD), Fabry disease (FD), and Hunter syndrome (mucopolysaccharidosis type II [MPS II]). ERT treatments are typically intravenously administered recombinant proteins that require a complex supply chain, including temperature control
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