Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia

Louise Tofts¹, Penny Ireland^{2

3

4}, Tracy Tate⁵, Supriya Raj⁴, Theresa Carroll², Craig F Munns^{2

6}, Stephen Knipe⁷, Katherine Langdon^{8

9}, Lesley McGregor¹⁰, Fiona McKenzie^{11

12}, Andreas Zankl^{13

14

15}, Ravi Savarirayan^{4

16}

Affiliations

¹ Health and Human Sciences, Macquarie University, Macquarie Park, Sydney, NSW 2109, Australia.
² Queensland Children's Hospital, South Brisbane, QLD 4101, Australia.
³ School of Health and Rehabilitation Sciences, University of Queensland, St Lucia, QLD 4072, Australia.
⁴ Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
⁵ Kids Rehab, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
⁶ Child Health Research Centre, University of Queensland, South Brisbane, QLD 4101, Australia.
⁷ The Newcastle Paediatric Clinic, New Lambton Heights, NSW 2305, Australia.
⁸ Perth Children's Hospital, Perth, WA 6009, Australia.
⁹ Telethon Kid's Institute, Perth, WA 6009, Australia.
¹⁰ Women's and Children's Hospital, Adelaide, SA 5006, Australia.
¹¹ Genetic Health WA, King Edward Memorial Hospital, Perth, WA 6008, Australia.
¹² School of Paediatrics and Child Health, University of Western Australia, Perth, WA 6009, Australia.
¹³ Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2050, Australia.
¹⁴ Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
¹⁵ Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
¹⁶ Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Parkville, VIC 3052, Australia.

PMID: 39062238
PMCID: PMC11274906
DOI: 10.3390/children11070789

Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia

Louise Tofts et al. Children (Basel). 2024.

. 2024 Jun 28;11(7):789.

doi: 10.3390/children11070789.

Authors

Affiliations

¹ Health and Human Sciences, Macquarie University, Macquarie Park, Sydney, NSW 2109, Australia.
² Queensland Children's Hospital, South Brisbane, QLD 4101, Australia.
³ School of Health and Rehabilitation Sciences, University of Queensland, St Lucia, QLD 4072, Australia.
⁴ Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
⁵ Kids Rehab, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
⁶ Child Health Research Centre, University of Queensland, South Brisbane, QLD 4101, Australia.
⁷ The Newcastle Paediatric Clinic, New Lambton Heights, NSW 2305, Australia.
⁸ Perth Children's Hospital, Perth, WA 6009, Australia.
⁹ Telethon Kid's Institute, Perth, WA 6009, Australia.
¹⁰ Women's and Children's Hospital, Adelaide, SA 5006, Australia.
¹¹ Genetic Health WA, King Edward Memorial Hospital, Perth, WA 6008, Australia.
¹² School of Paediatrics and Child Health, University of Western Australia, Perth, WA 6009, Australia.
¹³ Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2050, Australia.
¹⁴ Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
¹⁵ Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
¹⁶ Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Parkville, VIC 3052, Australia.

PMID: 39062238
PMCID: PMC11274906
DOI: 10.3390/children11070789

Abstract

Background: Achondroplasia, the most prevalent skeletal dysplasia, stems from a functional mutation in the fibroblast growth factor receptor 3 gene, leading to growth impairment. This condition presents multifaceted medical, functional and psychosocial challenges throughout childhood, adolescence and adulthood. Current management strategies aim to minimise medical complications, optimise functional capabilities and provide comprehensive supportive care. Vosoritide (trade name: VOXZOGO^®, BioMarin Pharmaceuticals) is the first disease-modifying pharmaceutical treatment approved for the management of patients with achondroplasia and became available in Australia in May 2023.

Methods: Standardised clinical guidelines for its optimal use are not yet widely available. To address this gap, a multidisciplinary Australian Vosoritide Working Group, comprising 12 experts with experience in achondroplasia management from across Australia, developed recommendations to guide the use of vosoritide in clinical practice.

Results: The recommendations, which are expert opinions of the Australian Vosoritide Working Group, aim to (i) standardise the use of vosoritide across Australia, (ii) support the safe clinical rollout of vosoritide and (iii) support universal access.

Conclusions: These recommendations have been developed for healthcare professionals and institutions that are engaged in using vosoritide in the management of achondroplasia and will be revised using a formal framework for clinical guideline development once more evidence is available.

Keywords: Australia; achondroplasia; clinical guidelines; rare disease; treatment; vosoritide.

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Conflict of interest statement

None of the Australian Vosoritide Working Group members have received any honoraria for the development of this manuscript. Theresa Carroll and Katherine Langdon have no conflicts of interest. Louise Tofts and Ravi Savarirayan were/are principal investigators on the clinical trial programmes for VOXZOGO^® (vosoritide). Louise Tofts, Ravi Savarirayan and Penny Ireland have received unrestricted research grants from BioMarin for investigator-initiated research to develop the STEMS tool for measuring function in achondroplasia. Louise Tofts, Andreas Zankl, Supriya Raj, Fiona McKenzie, Tracy Tate, Lesley McGregor, Katherine Langdon and Ravi Savarirayan have received honoraria for participating in advisory boards, including for this specific work. BioMarin had no role in the development of these consensus guidelines, in the writing of the manuscript or in the decision to publish these guidelines.

Figures

**Figure 1**
Flowchart for assessing the developmental progress in children with achondroplasia, based on age. APLES, Achondroplasia Personal Life Experience Scale; ASQ, Ages and Stages Questionnaire; CHAQ, Childhood Health Assessment Questionnaire; PedsQL, Paediatric Quality of Life Inventory; STEMS, Screening Tool for Everyday Mobility and Symptoms; WeeFIM, Functional Independence Measure for Children.

See this image and copyright information in PMC

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Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia

Affiliations

Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

Grants and funding

LinkOut - more resources

Full Text Sources

Miscellaneous