Experience of X-linked hypophosphatemic rickets in the Gulf Cooperation Council countries: case series.

Summary: X-linked hypophosphatemic rickets (XLH), the most prevalent form of inherited hypophosphatemic rickets, is caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homolog, X-linked (PHEX). This case series presents 14 cases of XLH from Gulf Cooperation Council (GCC) countries. The patients' medical history, biochemical and radiological investigative findings, as well as treatment responses and side effects from both conventional and burosumab therapy, are described. Cases were aged 2-40 years at diagnosis. There were two male cases and 12 female cases. All cases were treated with conventional therapy which resulted in a lack of improvement in or worsening of the clinical signs and symptoms of rickets or biochemical parameters. Side effects of conventional therapy included nausea, diarrhea, abdominal pain, nephrocalcinosis, and hyperparathyroidism, which affected the patients' quality of life and adherence to treatment. In the 10 patients treated with burosumab, there was a marked improvement in the biochemical markers of rickets, with a mean increase in serum phosphate of +0.56 mmol/L and tubular maximum phosphate reabsorption (TmP) to glomerular filtration rate (GFR) ratio (TmP/GFR) of +0.39 mmol/L at 12 months compared to baseline. Furthermore, a mean decrease in serum alkaline phosphatase (ALP) of -80.80 IU/L and parathyroid hormone (PTH) of -63.61 pmol/L at 12 months compared to baseline was observed in these patients. Additionally, patients treated with burosumab reported reduced pain, muscle weakness, and fatigue as well as the ability to lead more physically active lives with no significant side effects of treatment. Learning points: Conventional therapy resulted in a suboptimal response, with a lack of improvement of clinical signs and symptoms. Side effects of conventional therapy included nausea, diarrhea, abdominal pain, nephrocalcinosis, and hyperparathyroidism, which affected the patients' quality of life and adherence to treatment. Burosumab demonstrated marked improvements in the biochemical markers of rickets, in addition to reducing pain, muscle weakness, and fatigue. There were no significant side effects associated with burosumab therapy.

Middle East experience from the Asia And Latin America Fracture Observational Study (ALAFOS): Baseline characteristics of postmenopausal women with osteoporosis using teriparatide.

OBJECTIVE: We aimed to describe the baseline clinical characteristics and fracture history of patients taking teriparatide in routine clinical practice in the Middle East (ME) subregional cohort of the Asia and Latin America Fracture Observational Study (ALAFOS). METHODS: Herein, we report baseline clinical characteristics of patients who were prescribed teriparatide (20 µg/day, subcutaneous injection) in four participant ME countries (Saudi Arabia, United Arab Emirates, Kuwait, and Lebanon). RESULTS: The ME cohort included 707 patients mean (SD) age 69.3 (11.6) years. Mean (SD) bone mineral density (BMD) T-scores at baseline were -3.13 (1.28) for lumbar spine, -2.88 (0.94) for total hip, and -2.65 (1.02) for femoral neck. Osteoporotic fractures after age 40 years were reported in 45.8% (vertebral fracture 14.4%, hip fracture 18.4%) and comorbidities in 57.4% of patients. Before starting teriparatide, 19.9% of patients took other osteoporosis medications. The median (Q1; Q3) EuroQoL 5-Dimension 5-Level visual analog scale score for perceived overall health status was 70 (50; 80). Mean (SD) worst back pain in the previous 24 hours was 4.0 (3.2) using a 10-point numeric rating scale. CONCLUSION: This analysis indicated that in ME countries, teriparatide is usually prescribed to patients with low BMD and high comorbidities, with prior fractures.

Study description and baseline characteristics of the population enrolled in a multinational, observational study of teriparatide in postmenopausal women with osteoporosis: the Asia and Latin America Fracture Observational Study (ALAFOS).

OBJECTIVE: To describe the study design and baseline patient characteristics of the Asia and Latin America Fracture Observational Study (ALAFOS) to better understand the profile of patients receiving teriparatide during the course of routine clinical practice in Asia, Latin America, the Middle East and Russia. METHODS: Prospective, observational, non-interventional study in postmenopausal women with osteoporosis who are prescribed teriparatide for up to 24 months, according to local medical standards, with a 12 month post-treatment follow-up. MEASURES: Demographics, risk factors for osteoporosis and fractures, history of fracture, prior osteoporosis medications, comorbidities, physical function, back pain and quality of life (QoL). RESULTS: In total 3031 postmenopausal women (mean age 72.5 years) recruited at 152 sites in 20 countries were analyzed; 62.9% had a history of fragility fracture after age 40 (33.0% of patients with spinal, 14.2% with hip fractures). The mean (SD) bone mineral density T-scores at baseline were -3.06 (1.40) and -2.60 (1.05) at the lumbar spine and femoral neck, respectively. At entry, 43.7% of patients were naïve to prior osteoporosis treatments; 40.5% of patients reported ≥1 fall in the past year. The median (Q1; Q3) EuroQoL Visual Analog Scale (EQ-VAS) for perceived overall health status was 60 (50; 80). The mean (SD) worst back pain Numeric Rating Scale in the last 24 hours was 4.6 (3.3). CONCLUSIONS: Our data indicates that patients who were prescribed teriparatide in the ALAFOS participant countries had severe osteoporosis, high prevalence of fractures, disabling back pain and poor QoL. The frequency of patients receiving prior osteoporosis medications was lower than in previous observational studies conducted in other locations.