ArticleOrphanet journal of rare diseases2014
Two years' experience with denosumab for children with osteogenesis imperfecta type VI.
Article in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 120 citations in OpenAlex.
- Urinary calcium and bone resorption markers during 3 years of denosumab treatment in pediatric osteogenesis imperfecta.JBMR plus · 2025Trial
- Denosumab in patients with osteogenesis imperfecta and a historical control study with alendronate.Frontiers in endocrinology · 2025Trial
- Efficacy and Safety of Denosumab vs Zoledronic Acid in OI Adults: A Prospective, Open-Label, Randomized Study.The Journal of clinical endocrinology and metabolism · 2024Trial
- Safety and Efficacy of Denosumab in Children With Osteogenesis Imperfecta-the First Prospective Comparative Study.The Journal of clinical endocrinology and metabolism · 2024Trial
- Safety and efficacy of denosumab in children with osteogenesis imperfect--a first prospective trial.Journal of musculoskeletal & neuronal interactions · 2016Trial
- Practical approach to the diagnosis, management, and treatment of pediatric patients with bone fragility: an expert opinion.Journal of endocrinological investigation · 2026Review
- Challenges in managing osteogenesis imperfecta in a resource-limited setting: a case report.Journal of medical case reports · 2025Article
- Medical Management for Fracture Prevention in Children with Osteogenesis Imperfecta.Calcified tissue international · 2024Review
- Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.European journal of human genetics : EJHG · 2024Article
- Emerging Landscape of Osteogenesis Imperfecta Pathogenesis and Therapeutic Approaches.ACS pharmacology & translational science · 2024Review
- Pediatric Osteoporosis.Indian journal of orthopaedics · 2023Article
- Fixation techniques in lower extremity correction osteotomies and fractures in mild-to-severe osteogenesis imperfecta patients: evaluation of the results and complications.Journal of orthopaedic surgery and research · 2023Article
- Denosumab use in osteogenesis imperfecta: an update on therapeutic approaches.Annals of pediatric endocrinology & metabolism · 2023Article
- Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling.World journal of clinical cases · 2023Review
- Denosumab in pediatric bone disorders and the role of RANKL blockade: a narrative review.Translational pediatrics · 2023Review
- Murine Animal Models in Osteogenesis Imperfecta: The Quest for Improving the Quality of Life.International journal of molecular sciences · 2022Review
- Advances in Diagnosis and Management of Childhood OsteoporosisJournal of clinical research in pediatric endocrinology · 2022Review
- Antagonism Between PEDF and TGF-β Contributes to Type VI Osteogenesis Imperfecta Bone and Vascular Pathogenesis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Drug Treatment of Low Bone Mass and Other Bone Conditions in Pediatric Patients.Paediatric drugs · 2022Review
- 4PBA reduces growth deficiency in osteogenesis imperfecta by enhancing transition of hypertrophic chondrocytes to osteoblasts.JCI insight · 2022Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOsteogenesis imperfecta (OI) is a hereditary disease causing reduced bone mass, increased fracture rate, long bone deformities and vertebral compressions. Additional non skeletal findings are caused by impaired collagen function and include hyperlaxity of joints and blue sclera. Most OI cases are caused by dominant mutations in COL1A1/2 affecting bone formation. During the last years, recessive forms of OI have been identified, mostly affecting posttranslational modification of collagen. In 2011, mutations in SERPINF1 were identified as the molecular cause of OI type VI, and thereby a novel pathophysiology of the disease was elucidated. The subgroup of patients with OI type VI are affected by an increased bone resorption, leading to the same symptoms as observed in patients with an impaired bone formation. Severely affected children are currently treated with intravenous bisphosphonates regardless of the underlying mutation and pathophysiology. Patients with OI type VI are known to have a poor response to such a bisphosphonate treatment.
methodDeciphering the genetic cause of OI type VI in our 4 patients (three children and one adolescent) led to an immediate translational approach in the form of a treatment with the monoclonal RANKL antibody Denosumab (1 mg/kg body weight every 12 weeks).
resultsShort-term biochemical response to this treatment was reported previously. We now present the results after 2 years of treatment and demonstrate a long term benefit as well as an increase of bone mineral density, a normalization of vertebral shape, an increase of mobility, and a reduced fracture rate.
conclusionThis report presents the first two-year data of denosumab treatment in patients with Osteogenesis imperfecta type VI and in Osteogenesis imperfecta in general as an effective and apparently safe treatment option.
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