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Clinical insight meets scientific innovation to develop a next generation ERT for Pompe disease.
Kishnani, Priya S; Chien, Yin-Hsiu; Berger, Kenneth I; Thibault, Nate; Sparks, Susan.
Afiliación
  • Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address: priya.kishnani@duke.edu.
  • Chien YH; Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
  • Berger KI; Sanofi, Cambridge, MA, USA.
  • Thibault N; Sanofi, Cambridge, MA, USA.
  • Sparks S; Sanofi, Cambridge, MA, USA.
Mol Genet Metab ; 143(1-2): 108559, 2024.
Article en En | MEDLINE | ID: mdl-39154400
ABSTRACT
Years of research into the structure, processing, and function of acid alpha-glucosidase led to the development and 2006 approval of alglucosidase alfa (recombinant human acid alpha-glucosidase, Myozyme®/Lumizyme®), an enzyme replacement therapy and the first approved treatment for Pompe disease. Alglucosidase alfa has been a lifesaving treatment for patients with infantile-onset Pompe disease and radically improved daily life for patients with late-onset Pompe disease; however, long-term experience with alglucosidase alfa unraveled key unmet needs in these populations. Despite treatment, Pompe disease continues to progress, especially from a skeletal muscle perspective, resulting in a multitude of functional limitations. Strong collaboration between the scientific and patient communities led to increased awareness of Pompe disease, a better understanding of disease pathophysiology, knowledge of the clinical course of the disease as patients surpassed the first decade of life, and the strengths and limitations of enzyme replacement therapy. Taken together, these advancements spurred the need for development of a next generation of enzyme replacement therapy and provided a framework for progress toward other novel treatments. This review provides an overview of the development of avalglucosidase alfa as a model to highlight the interaction between clinical experience with existing treatments, the role of the clinician scientist, translational research at both system and cellular levels, and the iterative and collaborative process that optimizes the development of therapeutics.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II / Alfa-Glucosidasas / Terapia de Reemplazo Enzimático Límite: Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II / Alfa-Glucosidasas / Terapia de Reemplazo Enzimático Límite: Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos