IMPE2023 Poster Presentations Growth and Syndromes (15 abstracts)
Medical complications in children with achondroplasia: learnings from PROPEL – a prospective clinical assessment study
Ravi Savarirayan 1 , Josep Maria De Bergua 2 , Paul Arundel 3 , Jean Pierre Salles 4 , Antonio Leiva-Gea 5 , Vrinda Saraff 6 , Helen McDevitt 7 , Maria Salcedo 8 , Marc Nicolino 9 , Valerie Cormier-Daire 10 , Peter Kannu 11 , Mars Skae 12 , Michael B. Bober 13 , John Phillips III 14 , Toby Candler 15 , Paul Harmatz 16 , Howard Saal 17 , Julie Hoover-Fong 18 , Richard Weng 19 , Elena Muslimova 19 , Terry Cho 19 , Daniela Rogoff 19 & Melita Irving 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. 6Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, United Kingdom. 7NHS Greater Glasgow and Clyde, Glasgow, United Kingdom. 8Hospital Universitario La Paz, Madrid, Spain. 9Hôpital Femme Mère Enfant, Lyon, France. 10Hôpital Necker-Enfants Malades, Paris, France. 11University of Alberta – Stollery Children’s Hospital, Edmonton, Canada. 12Manchester University NHS Foundation Trust, Manchester, United Kingdom. 13Nemours Children’s Hospital, Wilmington, USA. 14Vanderbilt University Medical Center, Nashville, USA. 15University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom. 16Benioff Children’s Hospital, Oakland, USA. 17Cincinnati Children’s Hospital Medical Center, Cincinnati, USA. 18Johns Hopkins University School of Medicine, Baltimore, USA. 19QED Therapeutics, Inc. (an affiliate of BridgeBio Pharma), San Francisco, USA. 20Guy’s and Saint Thomas’ NHS Foundation Trust, London, United Kingdom
Background: Achondroplasia (ACH) is the most common short-limbed skeletal dysplasia, affecting between 1 in 15,000 to 1 in 30,000 live births. 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. PROPEL is a prospective, non-interventional study designed to examine baseline growth parameters and health status in children being assessed for enrollment into interventional studies with infigratinib, an oral FGFR1–3 inhibitor in development for ACH. Here we describe medical complications reported as medical history and occurring during the PROPEL study.
Methods: Children with ACH between the ages of 2.5 and 10 years are eligible for enrollment in PROPEL and are evaluated at screening/baseline, month 3, month 6, and every 6 months thereafter. Medical history collected at screening/baseline and medical events occurring during study participation collected as adverse events/concomitant procedures are summarized using system organ class and preferred terms.
Results: To date, a total of 97 children with ACH (58% female, mean±SD age 6.3±2.5 years) have been enrolled at 19 sites in Europe, Australia and North America. Sixty-six children (68%) had undergone surgical and medical procedures with a mean of 3.1 procedures per child (1–15 surgeries/subject). The most common procedures were pressure-equalizing ear tube insertion, adenoidectomy and tonsillectomy. Twenty-one (22%) children had undergone at least 1 surgery (1–6 surgeries/child) for spine or cranial decompression. History of infections and respiratory disorders were reported in 50 (52%) and 52 (54%) children, respectively, the most common being ear infections and obstructive sleep apnea. Musculoskeletal disorders were described in 37 (39%) children, with kyphosis being the most common. While participating in the study (min: 6 months; max 18 months) 20 children (20%) underwent at least 1 surgical procedure, the most common being ear tube insertion. Infections occurred in 35 children (36%), ear infections being the most commonly occurring (n=18; 1–3 episodes/subject). A comprehensive summary of medical events will be presented at the conference.
Conclusions: The PROPEL study has a planned total enrollment of 200 children and seeks to contribute to the deeper understanding of the natural history of ACH. Data described here highlight the significant complications and high number of interventions that children with ACH undergo throughout infancy and childhood. This stresses the importance of expert management of this complex condition.
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