ESPE2021 Free Communications Bone and Mineral Metabolism (6 abstracts)
Use of Aids, Assistive Devices and Adaptations (AADAs) by Individuals Aged <25 Years with Fibrodysplasia Ossificans Progressiva (FOP): 36-Month Results from a Global Natural History Study (NHS)
Edward C. Hsiao 1 , Robert J. Pignolo 2 , Geneviève Baujat 3 , Matthew A. Brown 4 , Carmen De Cunto 5 , Richard Keen 6 , Mona Al Mukaddam 7 , Rose Marino 8 , Aude Houchard 9 & Frederick S. Kaplan 7
1Division of Endocrinology and Metabolism, the UCSF Metabolic Bone Clinic, the Institute of Human Genetics, and the UCSF Program in Craniofacial Biology, Department of Medicine, University of California San Francisco, San Francisco, CA, USA.;2Department of Medicine, Mayo Clinic, Rochester, MN, USA.;3Département de Génétique, Institut IMAGINE and Hôpital Universitaire Necker-Enfants Malades, Paris, France.;4Guy’s and Thomas’ NHS Foundation Trust and King’s College London NIHR Biomedical Research Centre, London, United Kingdom.;5Pediatric Rheumatology Section, Department of Pediatrics, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.;6Centre for Metabolic Bone Disease, Royal National Orthopaedic Hospital, Stanmore, United Kingdom.;7Departments of Orthopaedic Surgery and Medicine, The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.;8Ipsen, Newton, MA, USA.;9Ipsen, Boulogne-Billancourt, France
Background: Individuals with the ultra-rare genetic disorder FOP experience progressive heterotopic ossification. Median age at diagnosis is 5 years; patients are supported by multiple specialties. Most patients become immobilised by the third decade of life, requiring lifelong assistance. We characterise AADA use as an indicator of disease severity in younger individuals with FOP enrolled in a 36-month, prospective, global NHS (NCT02322255).
Methods: Individuals with FOP aged ≤65 years with documented ACVR1R206H mutation participated for up to 36 months. Use of and new-onset AADAs are reported for up to 36 months for participants aged <25 years, indicated via a list grouped into 12 categories. Data were analysed using descriptive statistics.
Results: 87 participants aged <25 years at Baseline were included in the Full Analysis Set. The most used AADA categories at Baseline and Month 36 are reported (Table). At Month 36, utilisation of the most common AADA categories was greater in participants aged 8-<25 years at Baseline versus those aged <8 years (Table). At Month 36, 27 participants reported ≥1 new-onset AADA versus Baseline. The most common new-onset categories were bedroom aids and devices, school and medical therapies for daily living for participants aged <8 at Baseline (71.4% each [5/7 participants]), medical therapies for daily living for participants aged 8-<15 (50.0% [5/10]) and personal care tools/aids and care attendants for participants aged 15-<25 (60.0% each [6/10]).
| Category | <8 years | 8-<15 years | 15-<25 years | |||||||||
| (%) | BL (na=16) | M12 (na=17) | M24 (na=13) | M36 (na=9) | BL (na=34) | M12 (na=30) | M24 (na=24) | M36 (na=11) | BL (na=34) | M12 (na=28) | M24 (na=17) | M36 (na=11) |
| 81.3 | 70.6 | 92.3 | 88.9 | 79.4 | 80.0 | 79.2 | 81.8 | 52.9 | 39.3 | 47.1 | 45.5 | |
| Personal care tools/aid | 68.8 | 58.8 | 69.2 | 55.6 | 82.4 | 86.7 | 87.5 | 90.9 | 79.4 | 85.7 | 82.4 | 72.7 |
| Bedroom aids/devices | 62.5 | 64.7 | 76.9 | 77.8 | 79.4 | 70.0 | 79.2 | 100.0 | 73.5 | 75.0 | 76.5 | 90.9 |
| Bathroom aids/devices | 50.0 | 41.2 | 69.2 | 55.6 | 64.7 | 66.7 | 79.2 | 81.8 | 61.8 | 60.7 | 76.5 | 90.9 |
| Care attendants | 68.8 | 64.7 | 69.2 | 55.6 | 79.4 | 66.7 | 91.7 | 90.9 | 70.6 | 75.0 | 82.4 | 90.9 |
Conclusions: High proportions of younger participants used AADAs at Baseline and Month 36. New-onset AADA use was increased at Month 36 versus Baseline, suggesting disease progression and increased functional impairment over time.
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