X-Linked Hypophosphataemia (XLH) is a rare, progressive, hereditary phosphate-wasting disorder characterised by excessive activity of fibroblast growth factor 23. The International XLH Registry was established to provide information on the natural history of XLH and impact of treatment on patient outcomes. The cross-sectional orthopaedic data presented are from the first interim analysis.

The XLH Registry (NCT03193476) was initiated in August 2017, aims to recruit 1,200 children and adults with XLH, and will run for 10 years. At the time of analysis (Last Patient In: 30/11/2020; Database Lock: 29/03/2021) 579 subjects diagnosed with XLH were enrolled from 81 hospital sites in 16 countries (360 (62.2%) children, 217 (37.5%) adults, and 2 subjects of unknown age).

Of subjects with retrospective clinical data available, skeletal deficits were the most frequently self-reported clinical problems for children (223/239, 93.3%) and adults (79/110, 71.8%). Retrospective fracture data were available for 183 subjects (72 children, 111 adults); 50 had a fracture (9 children, 41 adults). In children, fractures tended to occur in tibia/fibula and/or wrist; only adults reported large bone fractures. Joint conditions were noted for 46 subjects (6 children, 40 adults). For adults reporting osteoarthritis, knees (60%), hips (42.5%), and shoulders (22.5%) were the most frequently affected joints. Retrospective orthopaedic surgery data were collected for 151 subjects (52 children, 99 adults). Osteotomy was the most frequent surgery reported (n=108); joint replacements were recorded for adults only.

This is the largest set of orthopaedic data from XLH subjects collected to date. Longitudinal information collected during the 10-year Registry duration will generate real-world evidence which will help to inform clinical practice.

Authors acknowledge the contribution of all International XLH Registry Steering Committee members.

Spinal cord injury is an inevitable but rare occurrence in sports. Identifying trends and working to minimise risk is an integral part of sports management. All patients suffering a spinal cord injury in Scotland will be transferred to the Queen Elizabeth National Spinal Injuries Unit (QENSIU). Our records give an accurate account of trends in spinal cord injury. This study details the number of spinal cord injuries caused by sports and leisure pursuits in Scotland since 1992.

1451 patients have suffered a spinal cord injury in Scotland from 1992-2008. 142 (9.8%) arose from injuries during sport. The average age at injury was 32, and patients were predominantly male (91%). The commonest cause was diving (40, 28%) followed by cycling (29, 20%) climbing and hillwalking (15, 11%) and rugby union (12, 8%). Smaller numbers were seen in horse-riding (11), aerial sports (6), motor sports (6), snow sports (5), and football (5). Overall, there was evidence of an increasing trend in the number and severity of injuries in rugby and cycling.

The number of spinal injuries, caused by diving, rugby and cycling remains disproportionally high and the increasing trends identified merit further investigation.