International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia.

Autor: Savarirayan R; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia. ravi.savarirayan@mcri.edu.au., Hoover-Fong J; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Ozono K; Centre for Promoting Treatment of Intractable Diseases, ISEIKAI International General Hospital, Osaka, Japan., Backeljauw P; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Cormier-Daire V; Université Paris Cité, institut Imagine, Hôpital Necker Enfants maladies, Paris, France., DeAndrade K; The Little Legs Big Heart Foundation, West Palm Beach, FL, USA., Ireland P; Queensland Health, Brisbane, Queensland, Australia., Irving M; Guy's and St Thomas' NHS Foundation Trust, London, UK., Llerena Junior J; Centro de Genética Médica, FIOCRUZ, Rio de Janeiro, Brazil., Maghnie M; Paediatric Clinic, Endocrinology, University of Genova, Genova, Italy., Menzel M; Atlantic health system, Morristown, NJ, USA.; Columbia University, New York, NY, USA., Merchant N; UT Southwestern Medical Center, Children's Health, Dallas, TX, USA., Mohnike K; Children's Hospital, Magdeburg, Germany., Iruretagoyena SN; Fundación ALPE Acondroplasia, Gijón, Spain., Okada K; University of Tokyo, Tokyo, Japan., Fredwall SO; Sunnaas Rehabilitation Hospital, Nesodden, Norway.
Jazyk: angličtina
Zdroj: Nature reviews. Endocrinology [Nat Rev Endocrinol] 2025 Jan 06. Date of Electronic Publication: 2025 Jan 06.
DOI: 10.1038/s41574-024-01074-9
Abstrakt: Achondroplasia is the most common genetic form of short-limbed skeletal dysplasia (dwarfism). Clinical manifestations and complications can affect individuals across the lifespan, including the need for adaptations for activities of daily living, which can affect quality of life. Current international guidelines focus on symptomatic management, with little discussion regarding potential medication, as therapeutic options were limited at the time of their publication. Vosoritide is the first pharmacological, precision treatment for achondroplasia; it was approved for use in 2021, creating a need for vosoritide treatment guidelines to support clinicians. An international collaborative of leading experts and patient advocates was formed to develop this Consensus Statement. The group developed the guideline scope and topics during a hybrid meeting in November 2023; guideline statements were subsequently ratified via Delphi methodology using a predefined consensus threshold. These statements provide recommendations across the treatment pathway, from starting treatment with vosoritide through ongoing monitoring and evaluation, to stopping vosoritide and ongoing monitoring following cessation. These guidelines recommend a minimum set of requirements and a practical framework for professionals and health services worldwide regarding the use of vosoritide to treat infants, children and young people with achondroplasia. This Consensus Statement is a supplement to already established consensus guidelines for management and care of individuals with achondroplasia.
Competing Interests: Competing interests: BioMarin provided financial support for this project. In addition to the individual competing interests outlined below, all authors declare travel to the meeting and accommodation reimbursement, and honorarium payments for meeting participation and Delphi voting (on which this manuscript is based) from BioMarin Pharmaceutical Inc. R.S. reported receiving consulting fees and grants from BioMarin, participation on advisory boards with Ascendis and BioMarin, and consulting for BridgeBio. J.H.-F. reported grants or contracts for clinical trials from BioMarin, QED and Pfizer, consulting fees from BioMarin, QED, NovoNordisk and Innoskel, honoraria from Medscape and BioMarin, participation in Advisory Board meetings for MCDS-Therapy Clinical Trial (unpaid), BioMarin and QED. K. Ozono reported receiving honoraria from Alexion, Kyowa Kirin, and BioMarin. P.B. reported participating on a data monitoring committee and receiving consulting fees and honoraria from BioMarin. V.C.-D. reported payment or honoraria for lectures/presentations from BioMarin and Ipsen, and participation in Advisory Board meetings for BioMarin, QED-Propel and Mereo. K.DeA. reported participating on advisory boards for BioMarin and BridgeBio and attending meetings with BioMarin, BridgeBio, Ascendis, and Tyra Biosciences. P.I. reported honoraria and support for attending meetings from BioMarin and a start-up grant to her institution from BioMarin. M.I. reported honoraria for consultancy services from BioMarin, QED Therapeutics, Pfizer/Therachon, Sanofi, Ascendis, Alexionk, Kyowa Kirin, Innoskel and NovoNordisk. J.L.J. reported participation on a data safety monitoring board/advisory board, receiving consulting fees and honoraria from BioMarin and Sanofi. M. Maghnie reported participating on a data safety monitoring/advisory board and receiving consulting fees and honoraria from Pfizer, Novo Nordisk, Merck, Sandoz and BioMarin. N.M. reported receiving consulting fees from Pfizer, BioMarin and Alexion, and honoraria from Medscape, Springer, Science Collected and TouchIM. N.M. also reported receiving support for attending meetings from Parent Project of Muscular Dystrophy and PESTOLA and holds a leadership or fiduciary role in the Board of Positive Exposure and the ACMG DEI committee. K.M. reported grants or contracts for clinical trials, honoraria and support for attending meetings, and has participated in Advisory Board meetings for BioMarin. K. Okada reported payment or honoraria for lectures/presentations from BioMarin and Alexion, and participation in advisory board meetings for BioMarin. S.N.I., M. Menzel and S.O.F. declare no additional competing interests.
(© 2025. Springer Nature Limited.)
Databáze: MEDLINE
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