Related Experiment Video
Updated: Jan 13, 2026
Assessment of Child Anthropometry in a Large Epidemiologic Study
Published on: February 2, 2017
Longitudinal Observation of Children with Achondroplasia: Findings from a Global Natural History Study (ACHieve)
Ciara McDonnell1,2, Hanne Buciek Hove3, Melita Irving4
1Discipline of Paediatrics, Children's Health Ireland at Temple Street, Dublin, Ireland.
Insights
The ACHieve study tracked children with achondroplasia, finding consistent growth patterns and clinical events across different regions. This research provides valuable insights into the natural history of achondroplasia.
Area of Science:
- Pediatric Endocrinology
- Genetics and Rare Diseases
- Clinical Research
Background:
- The ACHieve study investigated growth velocity, body proportionality, and clinical events in children with achondroplasia.
- This research focused on patients not receiving growth-promoting therapies.
Purpose of the Study:
- To assess the natural history of achondroplasia in children.
- To evaluate growth parameters and clinical outcomes in a global cohort.
Main Methods:
- A global, longitudinal, prospective, observational study design.
- Enrollment of children aged 8 years or younger with achondroplasia.
- Bi-annual evaluations of anthropometric parameters and clinical events for a median of 21 months.
Main Results:
- 259 children from 15 countries were enrolled, with 83 from China.
- Growth parameters and body proportionality showed similar trajectories across regions.
- 77.2% of participants experienced clinical events, with 34.0% related to achondroplasia.
Conclusions:
- ACHieve represents one of the largest longitudinal natural history studies for achondroplasia.
- Findings indicate consistent growth trajectories irrespective of geographic region.
- The study highlights the generalizability of achondroplasia natural history data.
Introduction:
The ACHieve study assessed growth velocity, body proportionality, and clinical events in children with achondroplasia not receiving growth-promoting therapy.
Methods:
ACHieve was a global, longitudinal, prospective, observational study. Children ≤8 years old with achondroplasia were enrolled and evaluated every 6 months for anthropometric parameters and clinical events.
Results:
ACHieve enrolled 259 children in 15 countries, including 83 from China. Median follow-up was 21 months; median age of diagnosis was approximately 52 weeks in China and 2 weeks elsewhere. Growth parameters were similar regardless of region. Mean annualized growth velocity was 9.3 cm/year for males and 10.4 cm/year for females at age 1 and decreased to 4.1 cm/year and 4.6 cm/year, respectively, at age 4. Upper-to-lower-body segment ratio was generally consistent across regions. Overall, 77.2% of participants experienced clinical events, 34.0% of which were considered related to achondroplasia. Two deaths occurred (one accident and one cardiac arrest of unknown origin).
Conclusion:
ACHieve was one of the largest longitudinal natural history studies of achondroplasia to date and included the largest prospective Chinese achondroplasia cohort. The results demonstrated common trajectories in growth parameters regardless of region, indicating the generalizability of findings.
Related Concept Videos
02:20Longitudinal Research
01:26Longitudinal Studies
01:09Changes in the Appendicular Skeleton with Age
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...
01:10Nature and Nurture
01:27Growth of Cartilage and Bone Tissue
01:24Bone Formation by Endochondral Ossification