Genetic Bone Diseases: A Scoping Review of Pathology, Symptoms, Diagnosis, Treatment, and New Horizons.
This review highlights the need for ongoing research into genetic bone diseases and mentions vosoritide as a treatment option for achondroplasia, but further studies are needed to confirm its efficacy.
Where it sits
this study against the rest of the vosoritide corpusSummary and findings
This review examines genetic bone diseases, summarizing pathology, symptoms, diagnosis, and treatment insights for six specific conditions. Vosoritide is mentioned as a treatment for achondroplasia among other therapies. The review synthesizes findings from 36 studies published within the last five years.
Abstract
Genetic bone diseases are a rare group of afflictions suffered by the general population. However, their rarity should not diminish research efforts to help patients understand and treat their diseases. This review summarizes the pathology, symptoms, diagnosis, and treatment insight into six well-known genetic bone diseases. Only six bone diseases are included due to the relatively low prevalence of them as whole limiting our scope to ensure accurate information and attention is provided for each disease individually. A literature search of PubMed is conducted, including studies published within the past five years (January 2020-December 2025). Thirty-six studies met inclusion criteria, and no significant risk of bias is identified among the selected articles. Study findings are synthesized into disease overview, clinical and radiographic features, and diagnostic and treatment approaches. Actively developing or novel therapies relevant to each disease are also included. These treatments include: fresolimumab for osteogenesis imperfecta, small interfering ribonucleic acid (RNA) therapy for Osteopetrosis, denosumab for Paget's disease of bone, vosoritide/recifercept/infigratinib for achondroplasia, mesenchymal stem cell therapy for craniosynostosis, and combination losartan and atenolol therapy for Marfan syndrome. These treatments are generally more recently acknowledged in literature and are either actively undergoing research or require further research to determine their efficacy.
Background
This paper addresses the clinical understanding of genetic bone diseases, which are rare but impactful conditions. Prior research has highlighted the need for better diagnostic and treatment strategies in this area. This review is significant as it consolidates recent findings and therapies relevant to these diseases, potentially guiding future research and clinical practice.
Methods
The study is a scoping review that includes a literature search of PubMed for studies published from January 2020 to December 2025. A total of 36 studies were included based on predefined criteria. The review synthesizes information on clinical and radiographic features, diagnostic methods, and treatment approaches for six genetic bone diseases.
Results
The review identifies various treatments, including vosoritide for achondroplasia, but does not provide specific numeric outcomes or effect sizes. The synthesis of findings indicates that these treatments are either in development or require further research to ascertain their efficacy.
Interpretation
Compared to prior literature, this review emphasizes the evolving landscape of treatment options for genetic bone diseases. However, the lack of specific numeric findings limits the ability to assess the clinical significance of the treatments discussed. Potential confounds include the limited number of diseases covered and the reliance on a small number of studies, which may not represent the broader population.
Key findings
- 36 studies met inclusion criteria.
- No significant risk of bias is identified among the selected articles.
- Treatments include vosoritide for achondroplasia.
Limitations
- Focus on only six genetic bone diseases.
- Limited generalizability due to rarity of conditions.
- No specific numeric outcomes reported.
- Reliance on literature from a short time frame.