ReviewTherapeutic advances in chronic disease2018
Developments in rare bone diseases and mineral disorders.
Review in Therapeutic advances in chronic disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- Systematic review of health related-quality of life in adults with osteogenesis imperfecta.Orphanet journal of rare diseases · 2023Pooled it
- Transition Care for Young People with Rare Bone and Mineral Conditions: A Scoping Review.Advances in therapy · 2026Article
- Diagnostic Performance of Large Language Models for Orthopedic-Related Rare Diseases and Their Impact on Physicians' Diagnostic Accuracy: 2-Stage Comparative Evaluation Study Based on the Chinese Rare Disease Catalog.Journal of medical Internet research · 2026Article
- Transition Care for Young Persons with Rare Bone Mineral Conditions: A Consensus Recommendation from the ECTS Rare Bone Disease Action Group.Calcified tissue international · 2025Article
- A systematic literature review of the impact and measurement of mobility impairment in rare bone diseases.Therapeutic advances in musculoskeletal disease · 2025Review
- Efficacy of Bisphosphonate for Urolithiasis Complicated by Osteogenesis Imperfecta.Internal medicine (Tokyo, Japan) · 2024Article
- Prevalence of depression and anxiety, and their relationship to social support among patients and family caregivers of rare bone diseases.Orphanet journal of rare diseases · 2023Article
- The intricate mechanism of PLS3 in bone homeostasis and disease.Frontiers in endocrinology · 2023Review
- Treatment for subtrochanteric fracture and subsequent nonunion in an adult patient with osteopetrosis: A case report and review of the literature.World journal of clinical cases · 2021Article
- Comprehensive pain management strategy for infants with moderate to severe osteogenesis imperfecta in the perinatal period.Paediatric & neonatal pain · 2021Review
- Collagen transport and related pathways in Osteogenesis Imperfecta.Human genetics · 2021Review
- Article
- Rare Diseases of the Middle Ear and Lateral Skull Base.Laryngo- rhino- otologie · 2021Review
- Adiponectin signalling in bone homeostasis, with age and in disease.Bone research · 2021Review
- Genetic Disorders of the Extracellular Matrix.Anatomical record (Hoboken, N.J. : 2007) · 2020Review
- Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.American journal of medical genetics. Part A · 2020Article
- Subtrochanteric Femoral Fracture in a Patient with Osteopetrosis: Treated with Internal Fixation and Complicated by Intraoperative Femoral Neck Fracture.International journal of general medicine · 2020Article
- The evolving therapeutic landscape of genetic skeletal disorders.Orphanet journal of rare diseases · 2019Review
- Mobility in osteogenesis imperfecta: a multicenter North American study.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Fractures in patients with osteopetrosis, insights from a single institution.International orthopaedics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In the last decade, there have been a number of significant advances made in the field of rare bone diseases. In this review, we discuss the expansion of the classification system for osteogenesis imperfecta (OI) and the resultant increase in therapeutic options available for management of OI. Bisphosphonates remain the most widely used intervention for OI, although the effect on fracture rate reduction is equivocal. We review the other therapies showing promising results, including denosumab, teriparatide, sclerostin, transforming growth factor β inhibition and gene targeted approaches. X-linked hypophosphataemia (XLH) is the most common heritable form of osteomalacia and rickets caused by a mutation in the phosphate regulating endopeptidase gene resulting in elevated serum fibroblast growth factor 23 (FGF23) and decreased renal phosphate reabsorption. The traditional treatment is phosphate replacement. We discuss the development of a human anti-FGF23 antibody (KRN23) as a promising development in the treatment of XLH. The current management of primary hypoparathyroidism is replacement with calcium and active vitamin D. This can be associated with under or over replacement and its inherent complications. We review the use of recombinant parathyroid hormone (1-84), which can significantly reduce the requirements for calcium and vitamin D resulting in greater safety and quality of life for individuals with hypoparathyroidism. The use of receptor activator of nuclear factor κB ligand infusions in the treatment of a particular form of osteopetrosis and enzyme replacement therapy for hypophosphatasia are also discussed.
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What OpenQuestion holds
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.