Voxzogo (vosoritide) / BioMarin - LARVOL DELTA

Practical guidance for clinicians to optimise orthopaedic outcomes in achondroplasia: International achondroplasia forum guiding principles. (PubMed, Bone) - "These guiding principles aim to improve outcomes for people with achondroplasia by reducing treatment heterogeneity and providing recommendations to caregivers. Consultation with an experienced and specialised multidisciplinary team, emphasis on non-surgical approaches to address orthopaedic symptoms and the conduct of essential surgical procedures only in specialised centres form the core of the guiding principles."

Journal • Genetic Disorders • Movement Disorders • Musculoskeletal Diseases • Orthopedics • Pain

Key points of the International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with Achondroplasia (PubMed, Zhonghua Yi Xue Yi Chuan Xue Za Zhi) - "These recommendations complement and refine current management and nursing protocols for individuals with ACH and offer practical guidance for clinicians across diverse regions. This article highlights key elements of the guideline to provide evidence-based support and clinical direction for healthcare professionals in China treating children with ACH using vosoritide."

Journal • Endocrine Disorders • Genetic Disorders • Orthopedics

The CrescNet Registry Achondroplasia Module: Real-World Demographic Data and Clinical Outcomes in Untreated and Vosoritide-Treated Individuals. (PubMed, Horm Res Paediatr) - "The module facilitates the collection of real-world data to improve understanding of the natural history of achondroplasia and outcomes associated with interventions. Growth data from vosoritide-treated individuals were consistent with clinical trial findings and published real-world data. Longer-term follow-up is ongoing."

Clinical data • Journal • Real-world evidence • Endocrine Disorders • Genetic Disorders • Orthopedics • Pediatrics

Exploring adverse events associated with vosoritide monotherapy: Insights from the FDA Adverse Event Reporting System. (PubMed, PLoS One) - "The findings from this study underscore the importance of close monitoring of vosoritide treatment, particularly in pediatric patients. The identification of both expected and unexpected AEs highlights the necessity for ongoing pharmacovigilance and further research to fully understand the safety profile of vosoritide in clinical practice. This study contributes to the broader field by emphasizing the critical need for patient safety considerations in the development of new therapeutic agents."

Adverse events • Journal • Monotherapy • Retrospective data • Endocrine Disorders • Infectious Disease • Pediatrics

A PROOF – OF – CONCEPT STUDY TO EVALUATE THE SAFETY AND EFFICACY OF VOSORITIDE FOR THE TREATMENT OF GROWTH DEFICITS IN MPS IVA AND VI. (WRMC 2026) - No abstract available

Clinical

Effectiveness of Vosoritide in Children with Achondroplasia Starting Treatment Aged <2 Years: Interim Results from a Japanese Real-World Study (ACMG 2026) - "Children with achondroplasia aged <2 years had good adherence to early vosoritide initiation, with no consecutive missed doses of clinical significance, treatment interruptions, or discontinuations for any reason. Interim results from the first year of the study show robust growth benefit with vosoritide, comparable to that reported in clinical trials in this population. Data from this study will enable assessment of the impact of early vosoritide initiation on brain morphology, surgical burden, and common complications associated with achondroplasia."

Clinical • Real-world • Real-world evidence • Genetic Disorders • Orthopedics • FGFR3

From Early Access to Routine Care: Prospective Real-World Follow-Up of Vosoritide in Achondroplasia in France (ACMG 2026) - "Vosoritide demonstrated sustained growth benefits over 36 months in children with achondroplasia. No tachyphylaxis, treatment interruption, or new safety signals were observed in routine care. This real-world experience aligns with published data and supports early and long-term use of vosoritide in children with achondroplasia to optimize patient outcomes."

Clinical • Real-world • Real-world evidence • Genetic Disorders • Mood Disorders • Orthopedics • FGFR3

Interim Real-World Results from the Acorn Study: Long-Term Safety and Growth Outcomes of Vosoritide in Children with Achondroplasia (ACMG 2026) - "The safety of vosoritide was consistent with clinical trials, and no new safety signals occurred. Interim results also suggest a trend toward clinical benefits and sustained growth across ages with vosoritide in a real-world setting for up to 3 years, with good adherence and very few treatment discontinuations. The available results highlight the potential for starting vosoritide treatment early to maximize clinical benefits, such as fewer surgeries, while also maintaining a manageable and predictable safety profile."

Clinical • Real-world • Real-world evidence • Genetic Disorders • Musculoskeletal Diseases • Orthopedics • Rheumatology • FGFR3

Early Start, Maximum Impact: Long-term Trial Data Supporting Cumulative Clinical Benefit in Children Who Initiated Vosoritide <2 Years Old (ACMG 2026) - P2, P3 | "Vosoritide continues to be well tolerated with high adherence. Durable improvements in height while maintaining stable arm-to-height ratios suggests arm span improvements beyond untreated comparators. Body proportionality and BMI trajectories also improved in children with achondroplasia who initiated treatment aged <2 years vs untreated comparators, supporting guidelines recommending early treatment initiation to maximize clinical benefit."

Clinical • Genetic Disorders • Orthopedics

Vosoritide Therapy in a Patient with Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (ACMG 2026) - "Over the course of patient's NICU stay, the patient was able to wean off respiratory support and take feeds orally. The patient was discharged home at 21 days old with home oxygen (0.2 L nasal cannula)."

Clinical • CNS Disorders • Developmental Disorders • Epilepsy • Genetic Disorders • Orthopedics • Pulmonary Disease • Respiratory Diseases • FGFR3

Real-World Healthcare Utilization, Effectiveness, Health-Related Quality of Life, and Adherence to Vosoritide in Children with Achondroplasia in the United States (ACMG 2026) - P | "These interim results from an innovative real-world study demonstrate the healthcare impact of achondroplasia on children and their families and high vosoritide adherence in routine clinical practice. Effectiveness data align with real-world evidence from other geographies, and improvements in health-related quality of life outcomes, notably in physical function, underscore the importance of early treatment initiation to improve outcomes for children with achondroplasia."

Adherence • Clinical • HEOR • Real-world • Real-world evidence • Endocrine Disorders • Genetic Disorders • Musculoskeletal Diseases • Orthopedics • Otorhinolaryngology

BODY COMPOSITION CHANGES DURING 12-MONTH VOSORITIDE TREATMENT IN CHILDREN WITH HYPOCHONDROPLASIA: A DXA-BASED PROSPECTIVE STUDY (ACMG 2026) - P2 | "In this prospective 12-month study, vosoritide treatment in children with HCH led to a significant increase in lean mass and a higher LFR, while maintaining stable fat percentage and BMI. These results indicate a shift toward a healthier body composition profile, potentially reflecting increased muscle function and activity levels as growth velocity improves."

Clinical • Genetic Disorders • Obesity • Orthopedics • FGFR3

Long-Term Vosoritide Improves Bone Mineral Density and Bone Content in Children with Achondroplasia: Results from Quantitative Computed Tomography Analyses (ACMG 2026) - P2 | "Long-term vosoritide over 9 years of treatment was associated with improvement in bone growth parameters in this single-arm analysis, as measured by the QCT analyses. These data complement the previously reported annual height increases in children receiving vosoritide. Overall, long-term vosoritide treatment may potentially improve bone strength over time in children with ACH."

Clinical • Genetic Disorders

852370: When The Trial Ends Early: Perspectives on Premature Clinical Trial Closures in Rare Disease Therapeutics (ACMG 2026) - "Medical genetics has entered a new therapeutic era, with increasing FDA approvals for rare disease treatments such as pegvaliase, vosoritide, and Skysona. Dr. Melinda Peters will offer a regulatory view on the complex aftermath of abruptly halted trials.Together, these perspectives highlight the need for sustainable, ethical frameworks to advance therapeutics in rare disease care.Learning Objectives:• Describe the evolution of therapeutic development in medical genetics and its impact on rare disease management.• Identify the regulatory, ethical, and practical challenges posed by premature clinical trial terminations.• Discuss the psychological and clinical consequences of early trial closure on affected patients and families.• Evaluate potential strategies for maintaining patient care continuity when investigational therapies are halted."

Clinical • Cognitive Disorders • Rare Diseases

Homozygous Achondroplasia With Long-Term Survival: Growth Patterns, Medical Interventions, and Practice Implications. (PubMed, Am J Med Genet A) - "One child lived for 17 months and the other was 60 months at the time of publication. We describe two siblings born to parents with achondroplasia with homozygous achondroplasia and long-term survival."

Journal • Genetic Disorders • Orthopedics

Collagen-binding C-type natriuretic peptide enhances chondrogenesis and osteogenesis. (PubMed, JCI Insight) - "Vosoritide, a CNP analog designed for resistance to neutral endopeptidase, allows for once daily administration...Intra-articular injection of CBD-CNP to a mouse model of knee osteoarthritis suppressed subchondral bone thickening. By addressing the limitations of CNP's rapid degeneration, CBD-CNP leverages its collagen-binding capacity to achieve targeted, sustained delivery in collagen-rich tissues, offering a promising strategy for enhancing chondrogenesis and osteogenesis."

Journal • Hypotension • Immunology • Musculoskeletal Diseases • Orthopedics • Osteoarthritis • Pain • Rheumatology

Real-world outcomes of vosoritide in achondroplasia: A systematic review and meta-analysis of multinational clinical evidence. (PubMed, Genet Med) - "This meta-analysis shows that real-world observational data on vosoritide in children with achondroplasia replicate clinical trial findings, with greater gains in linear growth and a similarly favorable safety profile."

Journal • Real-world evidence • Retrospective data • Review • Genetic Disorders • Orthopedics • Pediatrics • FGFR3

C-type natriuretic peptide as mediator of growth in the absence of growth hormone: Unraveling the mystery of the growth without GH syndrome. (PubMed, Hormones (Athens)) - "Elevated natriuretic peptides, and in particular C-type natriuretic peptide (CNP), may serve as a compensatory growth mediator in the absence of GH, acting as local regulator of endochondral ossification through natriuretic peptide receptor B (NPR-B) by promoting chondrocyte proliferation and hypertrophy, rescuing skeletal growth in GH-insensitive contexts, and as also demonstrated by the therapeutic efficacy of the CNP analog vosoritide in achondroplasia. A comprehensive research approach unraveling the role of CNP in growth may redefine our understanding of growth and management of short stature."

Journal • Review • Brain Cancer • CNS Tumor • Endocrine Disorders • Genetic Disorders • Growth Hormone Deficiency • Oncology

Three-dimensional craniofacial imaging in children with achondroplasia treated with vosoritide. (PubMed, Genet Med Open) - "Our findings indicate that vosoritide treatment leads to a measurable improvement in facial phenotype in achondroplasia, highlighting its potential utility beyond enhancing linear growth. We discuss the role of pathway-disrupting medications, such as vosoritide, in addressing the broader spectrum of medical issues experienced by children with achondroplasia."

Journal • CNS Disorders • Depression • Genetic Disorders • Orthopedics • Psychiatry • FGFR3

Functional Change in Three Adolescents With Achondroplasia Following 12 Months Treatment With Vosoritide-A Case Series. (PubMed, J Paediatr Child Health) - No abstract available

Journal • Genetic Disorders

Real-world safety and age-dependent effectiveness of vosoritide in achondroplasia: A single-center retrospective analysis of transition from growth hormone to vosoritide. (PubMed, Bone) - "Injection site pain occurred in three patients, leading to one discontinuation. Vosoritide improves linear growth in children with ACH, including those previously treated with GH, showing greater benefit when started at ≥4 years, though earlier use may offer advantages."

Journal • Real-world evidence • Retrospective data • Genetic Disorders • Orthopedics • Pain

Clinical Expert Opinion on the Impact of Vosoritide on Health and Function in Children With Achondroplasia (ISPOR-EU 2025) - "Clinical expert experiences offer new insights into vosoritide's impact on achondroplasia, including functional, mobility, emotional, social outcomes, and caregiver burden. These insights can help clinicians discuss treatment with patients and inform future studies."

Clinical • Genetic Disorders

Effect of Vosoritide therapy on IGF-I and Endogenous C-type Natriuretic Peptide in Hypochondroplasia. (PubMed, J Clin Endocrinol Metab) - "In children with HCH, IGF-1 levels are reduced and NTproCNP levels are elevated at baseline. A correlation between changes in these levels during treatment suggests a possible interaction between IGF-1 and CNP signaling."

Journal • IGF1

Interventional Study of Vosoritide for the Treatment of Children With Hypochondroplasia (clinicaltrials.gov) - P3 | N=80 | Active, not recruiting | Sponsor: BioMarin Pharmaceutical | Enrolling by invitation ➔ Active, not recruiting

Enrollment closed

Thanatophoric Dysplasia Type 1 Treated with Vosoritide: A Case Report. (PubMed, Horm Res Paediatr) - "Vosoritide was well tolerated and improved growth velocity and lung function in this long‑term TD1 survivor, suggesting therapeutic potential even in severe FGFR3 overactivation. Given TD1's rarity, larger studies and further off‑label experience are essential to validate these findings."

Journal • Genetic Disorders • Orthopedics • FGFR3