SynthesisBioMed research international2014
Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.
Synthesis in BioMed research international, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02504879 (Study of the Natural History, Pathogenesis and Outcome of Melorheostosis - a Rare Osteosclerotic Disease), which is not on this map. Cited by 20 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Study of the Natural History, Pathogenesis and Outcome of Melorheostosis - a Rare Osteosclerotic Disease
Who cites it
20 citing papers in PubMed, 43 citations in OpenAlex.
- From essential basic understanding to clinical application - biological, physical and pathophysiological principles of (low-dose) radiotherapy in benign diseases.Frontiers in immunology · 2025Review
- Unraveling the complexity of skeletal dysplasias in the national health system.Frontiers in endocrinology · 2025Article
- Principles of clinical genetics for rheumatologists: clinical indications and interpretation of broad-based genetic testing.Advances in rheumatology (London, England) · 2024Review
- Rare genetic skeletal disorders: Evolving terminology, therapies, education and advocacy.Journal of the Pediatric Orthopaedic Society of North America · 2024Article
- Increased Hemichannel Activity Displayed by a Connexin43 Mutation Causing a Familial Connexinopathy Exhibiting Hypotrichosis with Follicular Keratosis and Hyperostosis.International journal of molecular sciences · 2023Article
- The molecular mechanism of Gorham syndrome: an update.Frontiers in immunology · 2023Review
- Gorham-Stout case report: a multi-omic analysis reveals recurrent fusions as new potential drivers of the disease.BMC medical genomics · 2022Article
- Embryology, Malformations, and Rare Diseases of the Cochlea.Laryngo- rhino- otologie · 2021Article
- Dental Pulp-Derived Mesenchymal Stem Cells for Modeling Genetic Disorders.International journal of molecular sciences · 2021Review
- Diaphyseal and Metaphyseal Modeling Defects-Clinical Findings and Identification of WRAP53 Deficiency in Craniometadiaphyseal Dysplasia.Frontiers in genetics · 2021Article
- Gorham-Stout disease of the malleolus: a rare case report.BMC musculoskeletal disorders · 2019Article
- Late-onset fibrodysplasia ossificans progressiva with atypical presentation: A case report.Case reports in women's health · 2019Article
- Clinical and translational pharmacological aspects of the management of fibrous dysplasia of bone.British journal of clinical pharmacology · 2019Review
- HDAC8, A Potential Therapeutic Target, Regulates Proliferation and Differentiation of Bone Marrow Stromal Cells in Fibrous Dysplasia.Stem cells translational medicine · 2019Article
- Hereditary Multiple Exostoses: Current Insights.Orthopedic research and reviews · 2019Review
- Clinical improvement in a patient with monostotic melorheostosis after treatment with denosumab: a case report.Journal of medical case reports · 2018Article
- Human diseases associated with connexin mutations.Biochimica et biophysica acta. Biomembranes · 2018Review
- 18F-NaF PET/CT in Extensive Melorheostosis of the Axial and Appendicular Skeleton With Soft-Tissue Involvement.Clinical nuclear medicine · 2017Article
- Skeletal Dysplasias: Growing Therapy for Growing Bones.Frontiers in pharmacology · 2017Review
- Hereditary Multiple Exostoses: a review of clinical appearance and metabolic pattern.Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal DiseasesReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A rare disease afflicts less than 200,000 individuals, according to the National Organization for Rare Diseases (NORD) of the United States. Over 6,000 rare disorders affect approximately 1 in 10 Americans. Rare genetic bone disorders remain the major causes of disability in US patients. These rare bone disorders also represent a therapeutic challenge for clinicians, due to lack of understanding of underlying mechanisms. This systematic review explored current literature on therapeutic directions for the following rare genetic bone disorders: fibrous dysplasia, Gorham-Stout syndrome, fibrodysplasia ossificans progressiva, melorheostosis, multiple hereditary exostosis, osteogenesis imperfecta, craniometaphyseal dysplasia, achondroplasia, and hypophosphatasia. The disease mechanisms of Gorham-Stout disease, melorheostosis, and multiple hereditary exostosis are not fully elucidated. Inhibitors of the ACVR1/ALK2 pathway may serve as possible therapeutic intervention for FOP. The use of bisphosphonates and IL-6 inhibitors has been explored to be useful in the treatment of fibrous dysplasia, but more research is warranted. Cell therapy, bisphosphonate polytherapy, and human growth hormone may avert the pathology in osteogenesis imperfecta, but further studies are needed. There are still no current effective treatments for these bone disorders; however, significant promising advances in therapeutic modalities were developed that will limit patient suffering and treat their skeletal disabilities.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.