Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder that affects dystrophin production, characterized by progressive neuromuscular dysfunction, often accompanied by osteoporosis. We prospectively evaluate the effects of bisphosphonates on bone micro-architecture reflected by trabecular bone score (TBS) of patients with DMD. A total of 72 male children or adolescents with DMD were included, with a mean age of 9.5 ± 1.8 years. They were divided into bisphosphonate treatment groups and control group based on areal bone mineral density (aBMD) and history of fragility fractures. Patients in bisphosphonate treatment groups randomly received intravenous infusion of 5 mg zoledronic acid (ZOL) annually or oral 70 mg alendronate weekly for three years. All patients took calcium 600 mg plus 125 IU vitamin D daily and calcitriol 0.25 μg every other day. TBS at the lumbar spine (LS) and aBMD at the LS, femoral neck (FN) and total hip (TH) were measured annually by dual-energy X-ray absorptiometry. Serum levels of β-isomerized carboxy-telopeptide of type I collagen and alkaline phosphatase were measured annually during the follow-up. A total of 25 (86.2%), 26 (92.9%) and 13 (86.7%) patients in the ZOL, alendronate and control groups completed the study. After 3 years, TBS Z-score increased from baseline by 1.13 (p < 0.01), 0.68 (p < 0.01) and 0.26 (p > 0.05) in the ZOL, alendronate and control groups, respectively. The mean increase in TBS Z-score from baseline was significantly greater in both bisphosphonate treatment groups compared to the control group (p < 0.05). No significant difference was found between the ZOL and alendronate groups. LS, FN and TH aBMD increased by 35.8%, 23.7% and 34.5% in the ZOL group (all p < 0.01 vs. baseline and control group) and by 21.5%, 29.3% and 25.0% in the alendronate group (all p < 0.05 vs. baseline and control group). LS and FN aBMD Z-scores increased by 1.56 and 1.63 in the ZOL group (all p < 0.01 vs. baseline), by 1.32 and 1.48 in the alendronate group (all p < 0.05 vs. baseline). Bisphosphonates demonstrated a favourable safety profile during the study period. This relatively long-term study confirms that zoledronic acid and alendronate are beneficial to improve micro-architecture reflected by TBS and aBMD of children or adolescents with DMD.

In 2025, osteoporosis management in Switzerland benefited from the introduction of abaloparatide, an anabolic PTHrP analogue that effectively reduces the risk of vertebral and non-vertebral fractures, with reimbursement criteria identical to those of romosozumab. Zoledronate, administered preventively only twice at a five-year interval in recently menopausal, non-osteoporotic women, lowers 10-year fracture risk by about 40 %. Calcium and/or vitamin D supplements are now subject to reimbursement restrictions. Burosumab, an anti-FGF23 antibody, has become the treatment of choice for X-linked hypophosphatemic rickets, though access remains limited in Switzerland. Finally, artificial intelligence is emerging as a valuable tool for radiographic diagnosis and opportunistic screening of osteoporotic fractures. En 2025, l’ostéoporose bénéficie de l’arrivée en Suisse de l’abaloparatide, nouvel agent anabolique osseux analogue de la PTHrP, réduisant le risque de fractures vertébrales et non vertébrales, et dont la limitation de prise en charge est identique à celle du romosozumab. Le zolédronate, administré préventivement seulement deux fois à cinq ans d’intervalle chez des femmes récemment ménopausées non ostéoporotiques, réduit d’environ 40 % le risque de fractures à 10 ans. Les suppléments de calcium et/ou vitamine D font désormais l’objet d’une limitation. Le burosumab, anticorps anti-FGF23, s’impose dans le rachitisme hypophosphatémique lié à l’X, malgré un accès encore restreint en Suisse. Enfin, l’intelligence artificielle progresse comme outil d’aide au diagnostic radiographique et au dépistage opportuniste des fractures ostéoporotiques.

Spinal and bulbar muscular atrophy (SBMA) is a hereditary neuromuscular disorder linked to androgen receptor gene mutations, often associated with metabolic abnormalities. We aimed to investigate the incidence of fragility fractures and the underlying mechanisms in SBMA. Consecutive genetically confirmed SBMA patients and healthy controls (HC) were enrolled. We surveyed fracture history and assessed motor function, bone metabolism markers, and bone mineral density (BMD) using dual-energy X-ray absorptiometry. Longitudinal BMD changes were also analyzed between SBMA patients and HC. A total of 109 SBMA patients and 21 HC were included. Fragility fractures in SBMA patients were mainly observed in cortical bone-dominant regions. Their lower limb BMD was significantly reduced (SBMA 1.10 g/cm, HC 1.19 g/cm; p < 0.05) and further decreased overtime. Despite low bone resorption markers, bone formation markers showed no difference between the groups, suggesting that SBMA patients exhibit characteristics of low turnover osteoporosis. Serum 25-hydroxyvitamin D levels were lower in SBMA patients than in HC (15.4 ng/mL vs. 19.4 ng/mL; p < 0.01). Longitudinal analysis revealed that SBMA patients had a higher incidence of fragility fractures than HC (log-rank test, p < 0.05), with the first fragility fracture occurring 10 years after the onset of muscle weakness. Low baseline BMD was a predictor of fragility fractures (adjusted OR = 0.32; 95% CI: 0.17-0.60; p < 0.05). SBMA patients have a high fragility fracture incidence, particularly in cortical bone, with a progressive BMD decrease. Low bone turnover and vitamin D deficiency are associated with these fractures.

The 2025 Santa Fe Bone Symposium (SFBS) was a combined in-person and virtual "hybrid" meeting based in Santa Fe, New Mexico, USA, on August 8-9, 2025. There were an equivalent number of in-person and remote attendees from throughout the USA and other countries. The SFBS was immediately preceded, on August 6-7, 2025, by the 2-day Endocrine Fellows Foundation-Santa Fe Bone Symposium Workshop on Metabolic Bone Diseases. This preceptorship included basic bone biology, osteoporosis, parathyroid and rare bone diseases. Most of the fellows attended the SFBS, for a total of 4 days of non-stop education in skeletal health. The topics covered at the SFBS included controversies and consensus in the use of dual-energy X-ray absorptiometry; management of osteoporosis medication side-effects; lessons learned from bone biopsies; osteoporosis in men and premenopausal women; update on treatment of rare bone diseases; parathyroid hormone and skeletal health; periprosthetic fractures; update on Bone Health ECHO; and much more. Ancillary events addressed issues such as bone health through the menopause transition, hypophosphatasia, X-linked hypophosphatemia, and osteoanabolic therapy for postmenopausal women with osteoporosis. This report of the proceedings of the 2025 SFBS summarizes the highlights and clinical insights of the plenary presentations.

Pathogenic loss-of-function variants in the plastin-3 gene (PLS3), encoding plastin-3 protein, are associated with early-onset X-linked osteoporosis. We present the case of a young adult male patient, with a history of multiple fragility fractures and blue sclerae, who was clinically diagnosed with osteogenesis imperfecta (OI) type 1 in childhood. He has been managed with intravenous bisphosphonate therapy, leading to an increase in bone density at the spine, stable bone density at the femoral neck, and a period free of fractures while on antiresorptive therapy. Two decades later, with a focus on reproductive family planning, a novel PLS3 variant was identified on genetic testing. This case report highlights an important role for genetic testing in patients with early-onset osteoporosis or a clinical diagnosis of OI. With the emergence of new targeted therapeutics and advanced reproductive options, such as preimplantation genetic testing, obtaining an accurate molecular diagnosis is key.