San Rafael, California, USA, October 9, 2026
BioMarin Pharmaceutical Inc. has announced new research findings across its rare disease portfolio, highlighting advances in the understanding and treatment of achondroplasia, hypochondroplasia and other skeletal disorders. The company is presenting data from 13 studies at the 2026 Annual Meeting of the American Society for Bone and Mineral Research (ASBMR), held in Boston, Massachusetts, from October 9–12. The presentations include new analyses of VOXZOGO® (vosoritide) in children with achondroplasia, including infants, as well as findings from studies involving hypochondroplasia and the investigational long-acting therapy BMN 333. Researchers are also presenting data on bone strength, skeletal growth, and BMN 401 in children with ENPP1 deficiency. One key area of investigation is whether VOXZOGO treatment influences growth at the foramen magnum and craniocervical junction, anatomical regions where abnormalities can contribute to serious complications in children with achondroplasia. The research highlights BioMarin’s continued focus on improving skeletal growth and understanding health outcomes beyond height, while expanding potential treatment options for people living with rare genetic disorders.
VOXZOGO Research Examines Skull Growth and Bone Health
VOXZOGO (vosoritide) is a C-type natriuretic peptide (CNP) analogue that targets the biological pathway involved in excessive fibroblast growth factor receptor 3 (FGFR3) signaling in achondroplasia. This genetic condition affects bone growth and can lead to short stature, skeletal differences and complications involving the spine and skull. At ASBMR 2026, BioMarin is presenting a post-hoc analysis of a randomized, double-blind, placebo-controlled study examining the effects of VOXZOGO on the foramen magnum and craniocervical junction in children with achondroplasia, including infants. These regions are clinically important because restricted space at the base of the skull can contribute to cervicomedullary compression. The analysis aims to improve understanding of how treatment may affect these growth-related anatomical measurements. Additional presentations address bone strength, bone mineral density, arm span, limb alignment and skeletal proportions. These measures can provide a broader picture of physical development than height alone. The findings may help researchers better characterize the potential benefits of early treatment, although the interpretation of individual anatomical outcomes requires careful evaluation of the study design and clinical evidence.
Hypochondroplasia Data Support VOXZOGO Development
BioMarin is also advancing VOXZOGO as a potential treatment for hypochondroplasia, a genetic skeletal disorder that can affect growth and body proportions. The company has reported positive Phase 3 results from the CANOPY-HCH-3 study, which evaluated vosoritide in children with this condition. The findings demonstrated statistically significant improvements in several growth measures, including annualized growth velocity, standing height, height Z-score and arm span. BioMarin submitted a supplemental New Drug Application (sNDA) to the U.S. Food and Drug Administration in 2026 and is pursuing submissions to the European Medicines Agency and other regional health authorities. If approved, VOXZOGO could become the first targeted therapy specifically indicated for hypochondroplasia. Regulatory approval has not yet been granted for this indication, and the medicine’s safety and effectiveness must be assessed by the relevant authorities. The ASBMR presentations add to the growing research effort to understand the disease and evaluate treatment strategies for children with rare skeletal conditions. The findings could help inform future clinical practice if the expanded indication receives regulatory approval.
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BMN 333 and BMN 401 Expand Rare Disease Pipeline
Beyond VOXZOGO, BioMarin is developing BMN 333, an investigational long-acting version of vosoritide intended for FGFR3-related dwarfism and other skeletal dysplasias. Preclinical findings presented at ASBMR examine its effects on endochondral bone growth and skeletal microarchitecture in juvenile mice and nonhuman primates. The company is investigating whether a longer-acting formulation could support less frequent administration while maintaining biological activity. BMN 333 remains investigational, and preclinical findings cannot establish efficacy in humans. BioMarin is also presenting 52-week Phase 3 results from the ENERGY 3 study of BMN 401 in children aged 1–12 years with ENPP1 deficiency, a rare genetic disorder associated with abnormalities in mineral metabolism and skeletal development. These studies reflect the company’s broader strategy of developing treatments for conditions with limited therapeutic options. Continued clinical research, long-term safety assessment and regulatory review will be essential to determine the potential role of these therapies. Through its ASBMR 2026 presentations, BioMarin is contributing new research on skeletal growth, bone health and targeted treatment approaches for rare genetic disorders.
Source: BioMarin press release
