ESPE2024 Poster Category 2 Growth and Syndromes (39 abstracts)
European Achondroplasia Forum: Are Current Outcome Measures for Achondroplasia Still Fit for Purpose in the Era of Medical Management?
Melita Irving 1 , Moeenaldeen AlSayed 2 , Genevieve Baujat 3 , Tawfeg Ben-Omran 4 , Silvio Boero 5 , Valérie Cormier-Daire 6 , Brigitte Fauroux 7 , Svein Fredwall 8 , Encarna Guillen-Navarro 9,10 , Phillip Kunkel 11 , Christian Lampe 12 , Antonio Leiva-Gea 13 , Mohamad Maghnie 14 , Klaus Mohnike 15 , Geert Mortier 16 , Zagorka Pejin 3 , Marco Sessa 17 & Sérgio Sousa 18
1Guy’s and St Thomas’ NHS Foundation Trust, London, United Kingdom. 2King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. 3Hôpital Necker-Enfants Malades, Paris, France. 4Sidra Medicine & Hamad Medical Corporation, Doha, Qatar. 5Istituto Giannina Gaslini, Genoa, Italy. 6Paris Descartes University, Paris, France. 7Necker University Hospital, Paris, France. 8Sunnaas Rehabilitation Hospital, Nesodden, Norway. 9Virgen de la Arrixaca University Hospital, Murcia, Spain. 10CIBERER-ISCIII, Madrid, Spain. 11University Medical Centre Mannheim, Mannheim, Germany. 12University Hospital Mannheim, Mannheim, Germany. 13Hospital Universitario Virgen de la Victoria, Malaga, Spain. 14Giannina Gaslini Institute, Genoa, Italy. 15Otto-von-Guericke-University Magdeburg, Magdeburg, Germany. 16UZ Leuven, Leuven, Belgium. 17Italian Association on Achondroplasia, Milan, Italy. 18Hospital Pediátrico de Coimbra, Coimbra, Portugal
Background: Achondroplasia requires lifelong multidisciplinary care. With the advent of targeted medical treatment, The European Achondroplasia Forum (EAF) reviewed existing health surveillance measures in achondroplasia to determine whether they are still relevant.
Methods: An online questionnaire was used to assess health status monitoring both in routine clinical practice and in determining response to vosoritide, currently the only licensed medical treatment for achondroplasia. It was distributed to EAF registrants, healthcare professionals specialising in achondroplasia. Responses were discussed at an online workshop held in April 2024, open to anyone with an interest in achondroplasia including clinicians, individuals, caregivers, and patient advocacy group representatives.
Results: 50 respondents representing a range of specialities from 14 countries across Europe, Latin America, the Middle East, and the USA completed the questionnaire. 29 follow up children receiving vosoritide in clinical practice and are monitoring physical outcomes, with 93% monitoring height, 89% weight, 82% head circumference, 78% growth velocity, 74% arm span, 74% BMI, 67% pubertal staging, 67% body proportion, and 63% sitting height; medical history, including 89% monitoring neurological symptoms, 85% pain, 70% apnoea, 70% fatigue, and 63% hearing loss; and quality of life (QoL) measures, with 78% monitoring independence skills, 74% functionality, 63% psychosocial factors and 52% academic achievement. Overall, 27.5% (8/29) responded that current clinical measures were inadequate to capture response to vosoritide. A similar proportion of respondents following children receiving vosoritide, as well as those who are not (11/39; 28%), responded that current measures did not accurately capture outcomes in routine practice, suggesting a wider issue in achondroplasia. Overall, 72% (28/39) were not contributing clinical data to a registry. Results of the questionnaire and subsequent workshop discussions also highlighted the need to develop a simplified, combined QoL measure to address this issue, which could form the basis for ongoing monitoring of response to condition-modifying treatments. This could be a digital, patient-reported outcome tool enabling patients and caregivers to transfer information to a central registry, addressing some of the barriers to effective collection of healthcare information in this complex medical condition.
Conclusion: Collecting lifelong, accurate, standardised data is essential to understanding not only the daily impact of achondroplasia, but also to determining the effect of an intervention, particularly upon the physical effects, medical complications and QoL. With the advent of innovative therapies, this is an opportune moment to ensure outcome measures align with evolving clinical practice, through an effective, accurate and scalable solution.
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Abstracts
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more