Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients

Llerena, Juan Clinton; Kim, Chong; Fano, Virginia; Rosselli, Pablo; Collett‐Solberg, Paulo Ferrez; Medeiros, Paula Frassinetti Vasconcelos de; Pino, Mariana del; Bertola, Débora Romeo; Lourenço, Charles Marques; Cavalcanti, Denise Pontes; Félix, Têmis Maria; Rosa-Bellas, Antonio; Rossi, Norma Teresa; Cortés, Fanny; Abreu, Flávia Oliveira Monteiro da Silva; Cavalcanti, Nicolette Celani; Ruz, Maria Cecilia Hervias; Baratela, Wagner A.R.

doi:10.1186/s12887-022-03505-w

Cited by 6 publications

(2 citation statements)

References 94 publications

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“…These guidelines highlight that there is still an unmet need for treatment options in achondroplasia, as limb lengthening and GH treatments have potential problems. Recently published management recommendations from Latin America highlight that achondroplasia-associated comorbidities are not limited to orthopaedic-related concerns; thus, there is a requirement for multidisciplinary teams for effective treatment of achondroplasia [ 119 ].…”

Section: Discussionmentioning

confidence: 99%

Burden and Treatment of Achondroplasia: A Systematic Literature Review

et al. 2023

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Background Achondroplasia 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. Methods Searches 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. Results Fifty-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. Conclusions This 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. Supplementary Information The online version contains supplementary material available at 10.1007/s12325-023-02549-3.

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Section: Discussionmentioning

confidence: 99%

Burden and Treatment of Achondroplasia: A Systematic Literature Review

et al. 2023

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“…Clinical guidelines have been established by experience and data of the natural history in many countries such as USA and Japan, and those in Europe and Latin America [35,[43][44][45]. However, there are still many unmet needs, for example, in preventing foramen magnum stenosis and spinal canal stenosis in ACH patients.…”

Section: Clinical Manifestations and Diagnosismentioning

confidence: 99%

Promising horizons in achondroplasia along with the development of new drugs

Ozono,

Kubota,

Michigami

2024

Endocr J

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Achondroplasia (ACH) is a representative skeletal disorder characterized by rhizomelic shortened limbs and short stature. ACH is classified as belonging to the fibroblast growth factor receptor 3 (FGFR3) group. The downstream signal transduction of FGFR3 consists of STAT1 and RAS/RAF/MEK/ERK pathways. The mutant FGFR3 found in ACH is continuously phosphorylated and activates downstream signals, resulting in abnormal proliferation and differentiation of chondrocytes in the growth plate and cranial base synchondrosis. A patient registry has been developed and has contributed to revealing the natural history of ACH patients. Concerning the short stature, the adult height of ACH patients ranges between 126.7-135.2 cm for men and 119.9-125.5 cm for women in many countries. Along with severe short stature, foramen magnum stenosis and spinal canal stenosis are major complications: the former leads to sleep apnea, breathing disorders, myelopathy, hydrocephalus, and sudden death, and the latter causes pain in the extremities, numbness, muscle weakness, movement disorders, intermittent claudication, and bladder-rectal disorders. Growth hormone treatment is available for ACH only in Japan. However, the effect of the treatment on adult height is not satisfactory. Recently, the neutral endopeptidaseresistant CNP analogue vosoritide has been approved as a new drug for ACH. Additionally in development are a tyrosine kinase inhibitor, a soluble FGFR3, an antibody against FGFR3, meclizine, and the FGF2-aptamer. New drugs will bring a brighter future for patients with ACH.

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