IMPE2023 Poster Presentations Growth and Syndromes (15 abstracts)
Bone mineral density in a cohort of children with ACH participating in the PROPEL studies
Ravi Savarirayan 1 , Josep Maria De Bergua 2 , Paul Arundel 3 , Jean Pierre Salles 4 , Antonio Leiva-Gea 5 , Melita Irving 6 , Vrinda Saraff 7 , Helen McDevitt 8 , Maria Salcedo 9 , Marc Nicolino 10 , Valerie Cormier-Daire 11 , Peter Kannu 12 , Mars Skae 13 , Michael B. Bober 14 , John Phillips III 15 , Toby Candler 16 , Paul Harmatz 17 , Howard Saal 18 , Julie Hoover-Fong 19 , Elena Muslimova 20 , Terry Cho 20 , Richard Weng 20 & Daniela Rogoff 20
1Murdoch Children’s Research Institute, Melbourne, Australia. 2Hospital Vithas San José, Vitoria-Gasteiz, Spain. 3Sheffield Children’s NHS Foundation Trust, Sheffield, United Kingdom. 4Hôpital des Enfants – Toulouse, Toulouse, France. 5Hospital Universitario Virgen de la Victoria, Malaga, Spain. 6Guy’s and Saint Thomas’ NHS Foundation Trust, London, United Kingdom. 7Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, United Kingdom. 8NHS Greater Glasgow and Clyde, Glasgow, United Kingdom. 9Hospital Universitario La Paz, Madrid, Spain. 10Hôpital Femme Mère Enfant, Lyon, France. 11Hôpital Necker-Enfants Malades, Paris, France. 12University of Alberta – Stollery Children’s Hospital, Edmonton, Canada. 13Manchester University NHS Foundation Trust, Manchester, United Kingdom. 14Nemours Children’s Hospital, Wilmington, USA. 15Vanderbilt University Medical Center, Nashville, USA. 16University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom. 17Benioff Children’s Hospital, Oakland, USA. 18Cincinnati Children’s Hospital Medical Center, Cincinnati, USA. 19Johns Hopkins University School of Medicine, Baltimore, USA. 20QED Therapeutics, Inc. (an affiliate of BridgeBio Pharma), San Francisco, USA
Background: Achondroplasia (ACH) is the most common form of short-limbed skeletal dysplasias and is caused by an activating pathogenic variant of the fibroblast growth factor receptor 3 (FGFR3) gene. People with ACH are at risk for several significant co-morbidities, including foramen magnum stenosis, obstructive sleep apnea, chronic otitis media with conductive hearing loss, spinal stenosis, and a propensity towards obesity. Decreased bone mass was reported in gain-of-function mutation in Fgfr3 mice, and a decrease in bone mineral density (BMD) has been observed in adults with ACH. Here we describe BMD of a cohort of children participating in PROPEL 2, a phase 2 study evaluating preliminary efficacy and safety of infigratinib, an oral FGFR1–3 tyrosine kinase inhibitor in development for ACH.
Methods: DXA scans of the spine (L1–4) were collected at baseline in children participating in PROPEL 2 using a Hologic or GE Lunar scanner following a pre-specified image acquisition procedure. Images were evaluated by a single reviewer. Results are expressed as z-score for age and sex based on average-height children.
Results: 52 children (mean±SD age: 7.97±1.9 years; 29 female; mean±SD height z-score: –5.4±1) were included in this analysis. BMD of the lumbar spine was –0.96±0.9 SDS (min –4.1; max 0.7 SDS). No statistical difference was found between males and females. 85% of children (n=44) had a BMD <0 SDS, from which 21 (40%) had a BMD between –2 and < –1 SDS, 18 (35%) presented a BMD between –1 and 0, and 5 (10%) presented a BMD < –2 SDS. Eight children (15%) had a BMD >0 SDS. No correlations were observed between BMD and age, height z-score or BMI.
Conclusion: Our findings show lumbar spine BMD to be lower in children with ACH compared with normative data from children of average height. Low BMD in the context of short stature is difficult to interpret, raising the question of the degree to which low bone status can be attributed to smaller bone size relative to age. Even though our findings do not take into account children’s height, no correlation between BMD and baseline height z-score was identified in this cohort, suggesting that the findings may not be solely attributable to overall height. These findings reinforce the need to better understand how to circumvent this limitation in children with skeletal dysplasias in order to improve DXA interpretation and avoid misdiagnoses.
Article tools
My recent searches
My recently viewed abstracts
Authors
IMPE Abstracts
© Bioscientifica 2025 |
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