TY - JOUR
T1 - A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide
AU - Mehta, Atul
AU - Ramaswami, Uma
AU - Muenzer, Joseph
AU - Giugliani, Roberto
AU - Ullrich, Kurt
AU - Collin-Histed, Tanya
AU - Panahloo, Zoya
AU - Wellhoefer, Hartmann
AU - Frader, Joel
N1 - Funding Information:
This analysis was supported by Shire, a member of the Takeda group of companies, which also assisted in analyzing the data and preparing the manuscript. Under the direction of the authors, Lindsay Napier, PhD, CMPP, employee of Excel Medical Affairs, provided writing assistance for this manuscript, funded by Takeda. Editorial assistance in formatting, proofreading, copyediting, and fact-checking also was provided by Excel Medical Affairs and funded by Takeda. We are deeply grateful for the great contributions of the late Christine Lavery. Christine, in her role as CEO of the Fabry International Network (FIN) and the MPS Society, was instrumental in helping to establish, evolve, and run the program. The authors would like to thank all the physicians with patients enrolled in the program, Direct Relief and Project Hope, in particular Ellen Cho and Amy Mata (Direct Relief) and Dr Reda Mansour (Project Hope), for operational support with administering logistics of the charitable access program and for help with provision of patient data for this analysis, Professor Chris Hendriksz (who was also one of the initial members of the MEC), Flo Hendriksz, and Care Beyond Diagnosis for support with the independent educational program, Professor Arndt Rolfs at Centogene for diagnostic support, Marija Joldic of MPS Europe, Martynas Davidonis, previously of Fabry International Network (FIN) for their involvement in the program, Jaco Botha of Takeda for statistical analyses, Harpreet Ram of EVR Consulting LLC for her invaluable contributions to program design, development and operational execution, and the Takeda LSD charitable access program Operational Team.
Funding Information:
Local physicians with patients enrolled in the program receive ongoing, long-term support and appropriate education in collaboration with the program’s partners to ensure best practice for ongoing administration of treatment. These activities include a program of educational events organized and delivered by NGO partners, with content created by experts and committee members, supported by an independent educational grant from Takeda. Over the past few years, such independent educational events have been held in several countries, including Morocco, Kazakhstan, Panama and Botswana, to which interested physicians from the regions and countries surrounding the event are invited to attend. Such educational events have successfully provided information and training to local physicians on LSDs as well as other rare inherited metabolic disorders. The topics cover support with diagnosis, non-drug management options, surgical management, pregnancy management, concomitant medications for joint pain, psychological input, etc., and management of complications including the prevention and management of infusion-related reactions. Post-event online learning modules provide ongoing training for event attendees; the materials focus on reinforcing rare disease awareness and diagnostic support. Thirty physicians are currently registered on the associated post-event online learning platform, working through a total of 30 learning modules []. Follow-up educational events, organized by FYMCA Medical Ltd, independent of Takeda, are also held for those who have completed online training modules.
Publisher Copyright:
© 2021, The Author(s).
PY - 2021/12
Y1 - 2021/12
N2 - Background: 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. Methods: 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. Results: 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. Conclusions: 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.
AB - Background: 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. Methods: 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. Results: 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. Conclusions: 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.
KW - Access
KW - Enzyme replacement therapy
KW - Fabry disease
KW - Gaucher disease
KW - Humanitarian
KW - Hunter syndrome
KW - Low/middle income economies
KW - Lysosomal storage disorders
KW - MPS II
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U2 - 10.1186/s13023-020-01645-9
DO - 10.1186/s13023-020-01645-9
M3 - Article
C2 - 33407729
AN - SCOPUS:85098848576
SN - 1750-1172
VL - 16
JO - Orphanet journal of rare diseases
JF - Orphanet journal of rare diseases
IS - 1
M1 - 8
ER -