Mostrar registro simples

dc.contributor.authorMehta, Atul B.pt_BR
dc.contributor.authorRamaswami, Umapt_BR
dc.contributor.authorMuenzer, Josephpt_BR
dc.contributor.authorGiugliani, Robertopt_BR
dc.contributor.authorUllrich, Kurtpt_BR
dc.contributor.authorHisted, Tanya Collinpt_BR
dc.contributor.authorPanahloo, Zoyapt_BR
dc.contributor.authorWellhoefer, Hartmannpt_BR
dc.contributor.authorFrader, Joelpt_BR
dc.date.accessioned2021-05-13T04:25:31Zpt_BR
dc.date.issued2021pt_BR
dc.identifier.issn1750-1172pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/220781pt_BR
dc.description.abstractBackground: 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]). 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 beneft, in selected countries, through donation of ERT to nonproft organiza‑ tions, 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 fndings suggest that the program can beneft selected patients previously unable to access disease-specifc treatments. Further inno‑ vative solutions and eforts are needed to address the challenges and unmet needs of patients with LSDs and other rare diseases around the world.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofOrphanet journal of rare diseases. [London]. Vol. 16 (2021), 8, 10 p.pt_BR
dc.rightsOpen Accessen
dc.subjectDoença de Gaucherpt_BR
dc.subjectGaucher diseaseen
dc.subjectFabry diseaseen
dc.subjectDoença de Fabrypt_BR
dc.subjectHunter syndromeen
dc.subjectDoenças por armazenamento dos lisossomospt_BR
dc.subjectMPS IIen
dc.subjectTerapia de reposição de enzimaspt_BR
dc.subjectAccessen
dc.subjectLysosomal storage disordersen
dc.subjectEnzyme replacement therapyen
dc.subjectLow/middle income economiesen
dc.subjectHumanitarianen
dc.titleA charitable access program for patients with lysosomal storage disorders in underserved communities worldwidept_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb001123202pt_BR
dc.type.originEstrangeiropt_BR


Thumbnail
   

Este item está licenciado na Creative Commons License

Mostrar registro simples