ArticleOrphanet journal of rare diseases2021
A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 3 of them syntheses 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
20 citing papers in PubMed, 3 syntheses or guidelines pooled it, 45 citations in OpenAlex.
- A systematic review of core outcomes reported in boys and men with Klinefelter syndrome.Endocrine · 2025Pooled it
- Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.Calcified tissue international · 2024Pooled it
- Systematic review of health related-quality of life in adults with osteogenesis imperfecta.Orphanet journal of rare diseases · 2023Pooled it
- Article
- Clinical diagnosis and challenges in management of Osteogenesis Imperfecta in a resource-limited setting - A case report and review of literature.International journal of surgery case reports · 2025Article
- A systematic literature review of the impact and measurement of mobility impairment in rare bone diseases.Therapeutic advances in musculoskeletal disease · 2025Review
- Developing a Core Outcome Set for Netherton Syndrome: An International Multi-Stakeholder e-Delphi Consensus Study.Dermatology (Basel, Switzerland) · 2025Article
- Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood.Calcified tissue international · 2024Review
- Optimising Health-Related Quality of Life in Children With Osteogenesis Imperfecta.Calcified tissue international · 2024Review
- Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.Orphanet journal of rare diseases · 2024Review
- A standard set of outcome measures for the comprehensive assessment of oral health and occlusion in individuals with osteogenesis imperfecta.Orphanet journal of rare diseases · 2024Article
- Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and "Function Profile": a rehabilitative approach.Orphanet journal of rare diseases · 2023Review
- Early Life Management of Osteogenesis Imperfecta.Current osteoporosis reports · 2023Review
- "Osteogenesis Imperfecta Patients Wish Orthopedic Surgeons Had Better Strategies to Help with…"-Results of a Patient and Parent-Oriented Survey.Children (Basel, Switzerland) · 2023Article
- Transition from Pediatric to Adult Health Care in Osteogenesis Imperfecta.Current osteoporosis reports · 2023Review
- Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations.Orphanet journal of rare diseases · 2022Article
- The prevalence of musculoskeletal pain and therapy needs in adults with Osteogenesis Imperfecta (OI) a cross-sectional analysis.BMC musculoskeletal disorders · 2022Article
- Fractures in Osteogenesis Imperfecta: Pathogenesis, Treatment, Rehabilitation and Prevention.Children (Basel, Switzerland) · 2022Article
- Experienced fatigue in people with rare disorders: a scoping review on characteristics of existing research.Orphanet journal of rare diseases · 2022Article
- A roadmap to surgery in osteogenesis imperfecta: results of an international collaboration of patient organizations and interdisciplinary care teams.Acta orthopaedica · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
27 authors at 18 institutions in 13 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOsteogenesis Imperfecta (OI) is a genetic disorder also known as 'brittle bone disease'. The clinical manifestation of OI shows a wide variation. Therefore, care for patients with OI requires an interdisciplinary approach. The effectiveness of particular interventions and treatment protocols of interdisciplinary teams is not clear due to a non-standardized and wide variation of patient outcomes thus making the comparison of outcome measures available in the literature difficult. It is only by agreeing on a common, standard set of outcome measures for the comprehensive appraisal of OI that comparisons across interdisciplinary treatment centers for OI will be possible in the future.
methodsThe Key4OI international interdisciplinary working group of 27 members used a consensus-driven modified Delphi approach to develop a set of global outcome measures for patients with OI. The International Classification of Functioning, Disability and Health (ICF), was used to define domains and organize the outcomes from the literature search. After reviewing the outcomes extracted from the literature, trials and registries, the working group agreed on a final selection of domains and their definition (ICF definition as well as a lay description). These domains were then presented to the focus groups who prioritized the outcome domains by taking into account the items important to the OI community. All content was collected and analyzed and final domains were determined. A consensus of appropriate measuring instruments for each domain was reached with Delphi rounds. The entire approach was in line with the International Consortium for Health Outcomes Measurement ICHOM methodology.
resultsMore than 400 different outcome measures were identified in our literature search. After three Delphi rounds, 24 domains were selected. After the focus group sessions, the number of domains were reduced to 15. A consensus was reached on the measuring instruments to cover these domains for both children and adults.
conclusionThe Key4OI project resulted in standard set of outcome measures focused on the needs and wishes of individuals with OI and their families. This outcome set will enable healthcare teams and systems to compare and to improve their care pathways and quality of care worldwide. Further studies are needed to evaluate the implementation of this standardized outcome set.
Indexed as
Identifiers
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.