SynthesisAdvances in therapy2023
Burden and Treatment of Achondroplasia: A Systematic Literature Review.
Synthesis in Advances in therapy, 2023. 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, 29 citations in OpenAlex.
- Efficacy and safety of Vosoritide in achondroplasia: A systematic review and meta-analysis.The Indian journal of medical research · 2026Pooled it
- Predicting Craniospinal Surgery in Pediatric Achondroplasia: Benchmarking Statistical Inference and Explainable AI Under Rare-Disease Constraints.Annals of biomedical engineering · 2026Article
- Patient perspectives on humeral lengthening in achondroplasia: association between treatment timing and acceptance.European journal of orthopaedic surgery & traumatology : orthopedie traumatologie · 2026Article
- Genetic Bone Diseases: A Scoping Review of Pathology, Symptoms, Diagnosis, Treatment, and New Horizons.Advanced genetics (Hoboken, N.J.) · 2026Review
- Clinical and genetic profile of achondroplasia: a descriptive study from a tertiary care center in Saudi Arabia.BMC pediatrics · 2026Article
- Experiences and treatment perspectives of adolescents and young adults with achondroplasia and caregivers: a qualitative interview study.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2026Article
- The CrescNet Registry Achondroplasia Module: Real-World Demographic Data and Clinical Outcomes in Untreated and Vosoritide-Treated Individuals.Hormone research in paediatrics · 2026Article
- Consensus statement on the management of Achondroplasia in the Middle East.Frontiers in endocrinology · 2026Article
- Qualitative Research in Children and Parents of Children with Achondroplasia to Evaluate the Content Validity of Multiple Clinical Outcome Assessments.Advances in therapy · 2026Article
- Clinical burden and healthcare resource utilization associated with achondroplasia: a real-world observational, retrospective cohort study.Orphanet journal of rare diseases · 2025Observational
- Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis.Orphanet journal of rare diseases · 2025Article
- Functional Independence Assessment in Children and Adolescents with Achondroplasia: A Multicenter Cross-Sectional Study Using the WeeFIM Scale.Diagnostics (Basel, Switzerland) · 2025Article
- Real-World Safety and Effectiveness of Vosoritide in Achondroplasia: Results from a Single Center in Portugal.Advances in therapy · 2025Article
- Approach to the Patient with Achondroplasia-New Considerations for Diagnosis, Management, and Treatment.The Journal of clinical endocrinology and metabolism · 2025Review
- International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia.Nature reviews. Endocrinology · 2025Review
- Article
- Clinical and economic burden of achondroplasia in the United States: results from a retrospective, observational study.Orphanet journal of rare diseases · 2025Observational
- [Achondroplasia : New era of orthopedic treatment?]Orthopadie (Heidelberg, Germany) · 2024Review
- Achondroplasia current concept of orthopaedic management.Journal of children's orthopaedics · 2024Review
- Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia.Children (Basel, Switzerland) · 2024Article
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 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAchondroplasia is the most common form of skeletal dysplasia. Recent advances in therapeutic options have highlighted the need for understanding the burden and treatment landscape of the condition. This systematic literature review (SLR) aimed to identify health-related quality of life (HRQoL)/utilities, healthcare resource use (HCRU), costs, efficacy, safety and economic evaluation data in achondroplasia and to identify gaps in the research.
methodsSearches of MEDLINE, Embase, the University of York Centre for Reviews and Dissemination (CRD), the Cochrane Library and grey literature were performed. Articles were screened against pre-specified eligibility criteria by two individuals and study quality was assessed using published checklists. Additional targeted searches were conducted to identify management guidelines.
resultsFifty-nine unique studies were included. Results demonstrated a substantial HRQoL and HCRU/cost-related burden of achondroplasia on affected individuals and their families throughout their lifetimes, particularly in emotional wellbeing and hospitalisation costs and resource use. Vosoritide, growth hormone (GH) and limb lengthening all conferred benefits for height or growth velocity; however, the long-term effects of GH therapy were unclear, data for vosoritide were from a limited number of studies, and limb lengthening was associated with complications. Included management guidelines varied widely in their scope, with the first global effort to standardise achondroplasia management represented by the International Achondroplasia Consensus Statement published at the end of 2021. Current evidence gaps include a lack of utility and cost-effectiveness data for achondroplasia and its treatments.
conclusionsThis SLR provides a comprehensive overview of the current burden and treatment landscape for achondroplasia, along with areas where evidence is lacking. This review should be updated as new evidence becomes available on emerging therapies.
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.