Department of Haematology, University College, London, UK.
University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Orphanet J Rare Dis. 2021 Jan 6;16(1):8. doi: 10.1186/s13023-020-01645-9.
Lysosomal 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.
The 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.
As 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.
The 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.
溶酶体贮积症（LSDs）是一种罕见的遗传性疾病，具有异质性的临床表现和严重程度。对于包括戈谢病（GD）、法布里病（FD）和亨特综合征（黏多糖贮积症 II 型[MPS II]）在内的几种 LSDs，已经有酶替代疗法（ERT）、底物替代疗法和药理学伴侣治疗等治疗选择。然而，由于某些国家缺乏当地许可、批准的药物，一些患者在获得治疗方面面临挑战。
武田 LSD 慈善准入计划旨在通过向非营利组织捐赠 ERT 以及支持医疗能力建设和通过独立赠款提供家庭支持，满足选定国家中具有最大总体获益可能的 GD、FD 或 MPS II 患者的需求。该计划的长期目标是为患有罕见代谢疾病的患者建立由当地医疗保健提供者提供的可持续医疗保健服务。通过该计划接受治疗的患者会定期接受监测，其临床数据和进展情况每年都会由一个独立的医学专家委员会（MEC）进行审查。MEC 还会完全独立于赞助公司选择入组患者。
截至 2019 年 8 月 31 日，来自 13 个国家的 199 名患者入组了该计划；其中 142 名患有 GD，41 名患有 MPS II，16 名患有 FD。在有 1 年随访数据的 155 名患者中，有 147 名（95%）医生报告了临床状况的改善。
在 1 年的随访中，应答率很高，在通过该计划接受 ERT 的患者中，有超过 90%的患者的数据显示大多数患者的临床状况都有所改善。这些发现表明，该计划可以使一些以前无法获得特定疾病治疗的患者受益。还需要进一步创新解决方案和努力，以解决全球 LSD 患者和其他罕见病患者的挑战和未满足的需求。
