ArticleGenetics in medicine open2024
Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America.
Article in Genetics in medicine open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
3 citing papers in PubMed.
- Assessing signs and impacts of achondroplasia: psychometric evaluation of the Achondroplasia Child Experience Measures.Journal of patient-reported outcomes · 2026Trial
- From FGFR3 Hyperactivation to Disease-Modifying Therapy in Pediatric Achondroplasia: Molecular Mechanisms, Clinical Evidence, and Emerging Treatments.Children (Basel, Switzerland) · 2026Review
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden. The Lifetime Impact Study for Achondroplasia (LISA), aimed to assess health-related quality of life and medical resource utilization among Latin America patients with achondroplasia. Methods: Data were collected from individuals aged 3 years and above in Argentina, Brazil, and Colombia between 2018 and 2021. A total of 172 patients participated in the study. Results: Children with achondroplasia reported lower scores compared with average stature children in Quality of Life in Short Stature Youth (QoLISSY) and Pediatric Quality of Life Inventory (PedsQL) questionnaires, with the greatest impact on physical and social domains. Among adolescents, a significant percentage reported pain, 10.3% experienced pain in 3 or more sites. Adults scored lower than the reference population in the EQ-5D-5L Visual Analog Score, and a considerable portion reported moderate to severe anxiety/depression, pain or discomfort, and mobility problems. The Nottingham Health Profile (NHP) revealed poor health status in terms of energy, pain, and mobility. Medical events, particularly musculoskeletal and connective tissue disorders were reported, resulting in high medical resource utilization. Conclusion: Overall, the Lifetime Impact Study for Achondroplasia study provides extensive data on health-related quality of life, psychosocial impact, and health care resource utilization among individuals with achondroplasia in Latin America. The findings confirm a significant burden of illness across multiple domains for these individuals.
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.