ESPE2024 Poster Category 1 Bone, Growth Plate and Mineral Metabolism 3 (10 abstracts)
A 10-year non-interventional registry of patients with FGF23-related hypophosphatemic rickets and osteomalacia in Gulf Cooperation Council (GCC)
Mohammed Al Dubayee 1 , Abdelhadi Habeb 2 , Abdulah Al-fares 3 , Abdulmajeed Alsubaihin 4 , Afaf Alsagheir 5 , Ahmad Noman 6 , Ahmad Sumaily 1 , Ahmed Yousif 7 , Aisha Al Senani 8 , Ali Al Mamari 9 , Ali Al Zahrani 5 , Asma Deeb 10 , Ayed Al Anezi 11 , Azza Al Shidhani 9 , Bader Al Jalsi 6 , Deepti Chaturvedi 10 , Eslam Eltahan 12 , Fahad Al Juraibah 1 , Faisal Al Sharif 3 , Fera Mansor 12 , George Samir 11 , Hala Gasim 4 , Hanan Al Azkawi 8 , Haneen Saeed Yamin 13 , Hasan Ali Mundi 13 , Hessa Alkandari 14 , Hessah Alotaibi 4 , Hussain Al Saffar 9 , Jamal Al Jubeh 7 , Khalid AlKanhal 15 , Loai Eid 13 , M Zulf Mughal 13 , Manal Khadora 13 , Maryam Al Badi 8 , Mohamed Abdeldayem 12 , Mona A Fouda 4 , Mouza Al Yahyaei 8 , Mrouge Sobaihi 6 , Munera Al Zahrani 16 , Nadia Shaukat 13 , Nagla Fawzi 11 , Najat Al Harthi 8 , Najya Attia 16 , Ohoud Mohammed 15 , Saif Al Yaarubi 17 , Salwa Al Aidarous 16 , Sameer Al Shammari 11 , Tarek Fiad 7 & Yasser Al Hakami 15
1National Guard Hospital (NGH), Riyadh, Saudi Arabia. 2National Guard Hospital (NGH), Madinah, Saudi Arabia. 3Security Forces Hospital, Riyadh, Saudi Arabia. 4King Saud University Hospital (KSUH), Riyadh, Saudi Arabia. 5King Faisal Specialist Hospital & Research Centre (KFSHRC), Riyadh, Saudi Arabia. 6King Faisal Specialist Hospital & Research Centre (KFSHRC), Jeddah, Saudi Arabia. 7Sheikh Khalifa Medical City (SKMC), Abu Dhabi, UAE. 8Royal Hospital, Muscat, Oman. 9Sultan Qaboos University Hospital (SQUH), Muscat, Oman. 10Sheikh Shakhbout Medical City & Khalifa University, Abu Dhabi, UAE. 11Al Jahra Hospital, Al Jahra, Kuwait. 12Kyowa Kirin Pharma, Dubai, UAE. 13Al Jalila Children’s Specialty Hospital, Dubai, UAE. 14Farwaniya Hospital, Farwaniya City, Kuwait. 15King Fahd Medical City, Riyadh, Saudi Arabia. 16National Guard Hospital (NGH), Jeddah, Saudi Arabia. 17Sultan Qaboos University Hospital (SQUH, Muscat, Oman
Background: Data on FGF23-related Hypophosphatemic rickets (HR)/osteomalacia in GCC are sparse. This observational registry aims to collect data on the treatment, disease burden, progression, and long-term outcomes among patients with FGF23-related HR/osteomalacia in GCC, effectiveness and safety of treatments, quality of life and healthcare resource utilization.
Methods: This multicenter registry aims to enroll 200 patients diagnosed with FGF23-related HR/osteomalacia from KSA, UAE, Kuwait, Oman, Qatar, and Bahrain. The study includes a 10-year prospective follow-up and a retrospective examination of up to three years post-diagnosis. We present findings from the second interim analysis.
Results: At this interim analysis, 99 patients were enrolled: KSA (71.7%), Oman (17.2%), Kuwait (5%), UAE (6.1%). Participants comprised 49 children (49.5%),20 adolescents (12-17 years, 20.2%), and 30 adults (30.3%), with a female predominance of 65.7%. Genetic testing revealed a PHEX mutation in 90 patients (91%). Other mutations: DMP1 (3 children,3%), FAM20C (2 children, 2%), ENPP1 (1 child, 1%) and linear nevus sebaceous syndrome (3 children, 3%). Mean SD time from symptoms to diagnosis was 36.7 months (53.2):children 20.9 (24.6), adolescents 58.1 (56.5), and adults 82.8 months (99.8). Diagnostic methods (n = 91) used at presentation included: genetic test (34.07%), biochemical/ clinical profile (16.48%), genetic test+biochemical/clinical profile (16.48%), genetic test+family history+biochemical/clinical profile (14.29%), genetic test+family history (7.69%), family history+biochemical/clinical profile (5.49%), family history (2.20%), and other combinations (1.10% each). Paternal history was reported in 14/43 cases (32.56%) and maternal history in 9/41 cases (22.0%). Patients were diagnosed/ treated for conditions affecting bone (72.7%), dental/oral (20.2%), skin (3%), renal (2%), or joint (1%). Treatments included burosumab (71.1% children,57.9% adolescents, 32% adults), oral phosphate (53.3% children, 63.2 adolescents, 48% adults), active vitamin D (53.3% children, 63.2% adolescents, 52.0% adults) and a combination of Vitamin D and oral phosphate (31.1% children, 15.8% adolescents, 36.0% adults. Burosumab dosage averaged (SD) 0.88 (0.40) children, 0.76(0.17) adolescents and 0.85 (0.20) in adults. SF-36 scores indicated substantial limitations: Energy/Fatigue Scale:44.0 (26.6), General Health Scale:40.5 (22.2), Physical Functioning Scale:43.60 (34.3), Pain Scale:5.9 (35.1), Role Limitations due to Emotional Problems:34.7(44.7), Role Limitations due to Physical Health:37.5 (44.7), Social Functioning Scale:50.5(36.19), Emotional Well-Being Scale:54.5 (28.9). Patients reporting limited vigorous activities (55.3%), moderate activity (34.0%) and reduced time spent on work/activities (60%).
Conclusion: The registry data are crucial for understanding the natural history of FGF23-related disorders, improving decision-making, and optimizing long-term outcomes.
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