Journal: Orphanet Journal of Rare Diseases 2023 18:166
Authors: Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed et al.
License and source: This article is licensed under the Creative Commons Attribution 4.0 International License (CC BY 4.0).
https://creativecommons.org/licenses/by/4.0/
Original publication available via PubMed
Summery: The following summary and key takeaways were prepared by the C4B team to support understanding of the scientific publication and are intended for informational purposes only. They do not replace the original article or professional medical advice.
This position statement calls for standardized, prospective real‑world data collection for achondroplasia to improve understanding of its natural history, quality of life, and treatment outcomes. An EMEA multidisciplinary committee reviewed current practices, found wide variation in data elements and collection methods, and identified a core dataset grouped into demographics; diagnosis and measurements; medical issues (including investigations, surgeries, medications); and treatment‑related outcomes. Priorities include auxological measures, sleep studies, neurological assessments, and quality‑of‑life metrics collected across age stages. The authors recommend pragmatic, interoperable registries with stakeholder and advocacy group involvement, standardized measurements, flexible country‑level additions, and robust governance to enable pooled analyses and better clinical decision‑making.
Key Take Aways:
This article will provide valuable insights into:
- Standardized, prospective registries are needed to capture long‑term RWE for achondroplasia.
- A core dataset (demographics, diagnosis/measurements, medical issues, interventions, medications, outcomes) was recommended.
- Data collection must be age‑appropriate and focus on growth, sleep, neurological, and quality‑of‑life measures.
- Harmonization, interoperability, and stakeholder (including advocacy) input are essential.
- Feasible minimum datasets at country level can be pooled to improve research and care.