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Encuesta sobre la acondroplasia
Hemos diseñado un cuestionario con el objetivo de conocer la población afectada o cercana a la acondroplasia.
El cuestionario es opcional y anónimo. Los datos obtenidos serán usados para cálculos estadísticos y para poder tener una mejor percepción sobre la historia natural de la acondroplasia.
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12 Mar 2021 

A recently published article by Julie Hoover-Fong et al.1 seeks to synthesize the current knowledge base about the nature, incidence, chronology, and the interrelationships of achondroplasia-related comorbidities across the lifespan.

Recent advances in research of medicines that aim to improve the growth velocity and reduce complications impact for this skeletal dysplasia have pushed the need to better understand its natural history, which is fundamental for assessing the efficacy of new medicines. However, there is a need for quality research on this.

The article proposes a two-way integration of recent research with the different types of observational studies already conducted. In this way it will be possible to support the permanent demand for evaluation and clinical management of the individual needs of people and, in this sense, the article also suggests the integration of the ICF (International Classification of Functioning, Disability, and Health - WHO, see fig.1) in the management of achondroplasia, as well as its integration with the collected data, allowing clinicians to apply early guidance strategies that are of extreme importance for people with achondroplasia and their families.

ICT ach
Fig.1. ICF model for achondroplasia. FGFR3: fibroblast 3 growth factor receptor; ICF: International Classification of Functioning, Disability, and Health. Adapted from J. Hoover-Fong, et al1

The authors point to several areas of clinical care and research where gaps exist2,3 and additional work is needed to improve the health of people with achondroplasia on the following levels:

  • Quality of life, functionality, and pain in children, adolescents, and adults.

  • Physical challenges of short stature or the stigma and lack of social support.

  • Foramen Magnum Stenosis and cervicomedullary decompression surgery evaluation decision process and approach.

  • Head circumference

  • Back problems

  • Sleep apnea

  • Genu varum

  • Growth, body proportion, puberty, and general skeletal health

  • Increased mortality risk

  • Weight, obesity, and other cardiovascular risk factors

In conclusion, in terms of priorities and challenges regarding the future of achondroplasia, it is essential to develop the following areas:

  • creative solutions to improve recruitment of adults with achondroplasia for natural history studies.
  • a set of tools to assess pain, function, quality of life, and mental health, so that results can be compared and aggregated across studies4.
  • an international disease registry (in a secure web application) that combines data from different clinical practices around the world to deepen the understanding of the natural history of achondroplasia.

  1. J. Hoover-Fong, et al., Lifetime Impact of Achondroplasia: Current Evidence and Perspectives on the Natural History, Bone (2021),

  2. Savarirayan R, et al. C-Type natriuretic peptide analogue therapy in children with achondroplasia. N Engl J Med 2019;381:25-35
  3. Komla-Ebri D, et al. Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model. J Clin Invest 2016;126:1871-84.

  4. Bloemeke J, et al. Cross-cultural selection and validation of instruments to assess patient-reported outcomes in children and adolescents with achondroplasia. Qual Life Res 2019

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