ICCBH2017 Poster Presentations (1) (209 abstracts)
Fibrodysplasia ossificans progressiva: baseline characteristics of 101 subjects participating in a global, longitudinal, natural history study
Frederick S Kaplan 1 , Edward C Hsiao 2 , Genevieve Baujat 3 , Matthew A Brown 4 , Carmen De Cunto 5 , Maja Di Rocco 6 , Richard Keen 7 , Mona Al Makkadam 1 , Donna R Grogan 8 & Robert J Pignolo 9
1Center for Research in FOP and Related Disorders, The University of Pennsylvania, Philadelphia, Pennsylvania, USA; 2Division of Endocrinology and Metabolism, University of California, San Francisco, California, USA; 3Hopital Necker-Enfants Malades Centre de Reference Maladies Osseuses Constitutionnelles Departement de Genetique, Paris, France; 4Institute of Health & Biomedical Innovation, Queensland University of Technology, Brisbane, Queensland, Australia; 5Department of Pediatrics, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina; 6Unit of Rare Diseases, Department of Pediatrics, IRCCS Giannina Gaslini, Genoa, Italy; 7Royal National Orthopaedic Hospital, Stanmore, UK; 8Clementia Pharmaceuticals Inc., Boston, Massachusetts, USA; 9Division of Geriatric Medicine and Gerontology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
Objectives: Progressive heterotopic ossification in fibrodysplasia ossificans progressiva (FOP; OMIM #135100) begins in childhood and leads to irreversible restriction of movement, functional impairment, and shortened life-span. Baseline data from an on-going, global, 3-year, natural history study (NHS) describe FOP disease characteristics, and retrospective flare-up history, causes/symptoms, and outcomes.
Methods: Data from 101 subjects (recruited from 23 countries/five continents) were analysed overall and by age (<8, 8 to <15, 15 to <25, and 25 to ≤65 years).
Results: The median age of this cohort was 14.0 years (range=4-56 years; 55% male; 74% Caucasian). By self-report, all but one subject (99%) had great toe malformations. Thumb malformations (51%) and tibial osteochondromas (37%) were also common. Lesional biopsy (18%, 26%, 52%, and 73% in the respective age groups) and misdiagnoses (24%, 46%, 67%, and 64%, respectively) occurred less often in younger versus older subjects. FOP-associated medical conditions included hearing loss (43%), restricted chest expansion (38%), fracture (32%), and ankylosed jaw (32%). Initial flare-ups (median onset=4.5 years) were reported in the cervical spine (20%), upper back/thoracic spine (20%), and head (19%); older subjects had more flare-ups in the hip (see table). Retrospective accounts of subjects’ last flare-up prior to enrolment are summarized in the table.
Conclusions: These baseline results are similar to a prior retrospective, international survey in 500 patients (Pignolo et al., 2015). It demonstrates that the NHS sample (~13% of the world’s known FOP population) is representative. The results also indicate that lesional biopsy and misdiagnoses are decreasing, suggesting improved diagnostic awareness among clinicians. Ultimately, the NHS will provide important prospective data on FOP disease progression. The authors would like to thank the International FOP Association for fostering patient participation in this study.
Disclosure: Dr Grogan is an employee of Clementia Pharmaceuticals Inc., which sponsored this study.
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