Endocrine Abstracts

Background: FOP is an ultra-rare genetic disorder characterised by episodic progressive heterotopic ossification (HO) and flare-ups, causing cumulative disability and early death. FOP is diagnosed and managed by multiple specialists, including endocrinologists. There are no established disease-modifying therapies to prevent HO in FOP. Treatment guidelines for symptomatic relief of FOP have recently been published by the International Clinical Council on FOP (ICC).¹

Objective: Report use of medications to manage FOP symptoms in a natural history study (NHS), as per standard clinical practice.

Methods: Individuals with FOP aged ≤ 65 years with a documented ACVR1^R206H mutation could participate in this 36-month, prospective, global NHS (NCT02322255). This analysis reports interim medication use data (cut-off: 31.08.2019). Use of medications (acute and chronic) was assessed at Baseline, by telephone at Weeks 1–3 and every 3 months thereafter, and at clinic visits (Months 12, 24 and 36). Medication prescribed for symptomatic treatment of reported flare-ups was recorded on flare-up Days 1, 42 and 84. Data were collected using a standardised list and are summarised here by preferred term (PT).

Results: 73/114 (64.0%) participants had ongoing prior medications at Baseline; the most common by PT were prednisone (25.4%), ibuprofen (22.8%) and montelukast (19.3%), which are included in the ICC guidelines (Table). Pain relief medications ongoing at Baseline also included (among others): paracetamol (11.4%), naproxen (8.8%) and celecoxib (7.9%). Most participants (91/114; 79.8%) initiated treatment with new medications during the NHS; the most frequent were prednisone (31.6%), ibuprofen (28.1%) and paracetamol (21.9%). Glucocorticoids were commonly administered upon flare-up onset (155/217; 71.4%), in accordance with ICC guidelines.

Conclusions: To manage their symptoms during this NHS, individuals with FOP used various medications, which were generally consistent with current ICC guidelines. Although the study objective was not to evaluate efficacy or safety of medications used, it highlights the need for disease-modifying therapies to treat or prevent symptomatic progression of FOP.

Reference

1. Kaplan FS. ICC FOP Treatment Guidelines. Available at: http://www.iccfop.org/dvlp/wp-content/uploads/2020/03/Guidelines_January-2020.pdf [Accessed: 14.05.2020].