Title: AACE2021-A-1064: A 10-Year Non-Interventional Registry of Patients with Fibroblast Growth Factor 23-Related Hypophosphatemic Rickets and Osteomalacia in the Gulf Region
Abstract: Phosphate wasting leads to hypophosphatemia and numerous consequences including mineralization defects. Hypophosphatemia is characterized by rickets in children and osteomalacia in adults. To-date, a range of hereditary and non-hereditary causes leading to hypophosphatemic rickets (HR) have been identified. Some of these genetic defects lead to an increase in serum fibroblast growth factor 23 (FGF23) levels (FGF23-related HR), while others affect phosphate transporters without affecting serum FGF23 levels (FGF23-independent HR). There is a data gap on FGF23-related HR and osteomalacia in terms of incidence, prevalence, risk factors, comorbidity, treatment modalities/treatment pathway, treatment outcomes, mortality and healthcare resource utilization (HCRU) in the Middle East. Hence, the primary aim of this observational registry is to collect data on the treatment, disease burden, progression, and long-term outcomes among patients with FGF23-related HR and osteomalacia in Gulf Cooperation Council (GCC) countries. In addition, this registry will capture data on the effectiveness and safety of treatments, quality of life (QoL), and HCRU related to FGF23-related HR and osteomalacia. This is a multi-center, non-interventional observational registry, open to individuals of both sexes and any age with FGF23-related HR/osteomalacia, who are either treated, currently untreated or naïve to treatment. It is planned to conduct the registry in 6 countries across the GCC: Kingdom of Saudi Arabia (KSA), United Arab Emirates (UAE), Kuwait, Oman, Qatar and Bahrain. All eligible patients at the participating sites will be invited to participate; it is expected that 250 patients will be enrolled. The registry will comprise a prospective component (planned to run for at least 10 years) that will collect data on treatment patterns, clinical outcomes, safety, HCRU and QoL, as well as a retrospective component that will collect data (for up to 6 years from the date of diagnosis) on medical history and HCRU. All visits and assessments will be per routine clinical practice. To-date, the necessary ethics/regulatory approvals have been obtained from 9 sites across KSA, Kuwait and Oman. The first site to go live (on 10 February 2021) was in KSA. A total of 6 patients have currently been recruited, and the start of data collection occurred on 12 June 2021. A planned total of 20 sites will participate in this registry, and the expected date for all sites to go live is by December 2021. This registry will facilitate the generation of epidemiological data that will enhance understanding of the progression, natural history, disease burden and treatment related to FGF23-related HR and osteomalacia. Insights generated from this data are intended to optimize clinical decision-making and inform best practice; this in turn should enhance patient outcomes over the long-term.