{"id":3953,"date":"2024-02-04T17:24:18","date_gmt":"2024-02-04T17:24:18","guid":{"rendered":"https:\/\/hcp.biomarin.com\/en-gb\/achondroplasia\/expert\/?page_id=3953"},"modified":"2024-06-24T13:22:36","modified_gmt":"2024-06-24T13:22:36","slug":"literature-reviews","status":"publish","type":"page","link":"https:\/\/hcp.biomarin.com\/en-gb\/achondroplasia\/expert\/literature-reviews\/","title":{"rendered":"Literature Reviews"},"content":{"rendered":"
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Literature Reviews<\/h2>\n

Our expert Editorial Committee have selected key publications on recent developments and important historical publications concerning achondroplasia. Free summaries and slide sets are available to download. Reproduction of content owned by BioMarin on this page is authorised for non-commercial purposes. You may be required to clear additional rights if specific content depicts identifiable private individuals or includes third-party works. To use or reproduce content that is not owned by BioMarin (including but not limited to content compiled by BioMarin subject to a license from the original copyright holder), you may need to seek permission directly from the right-holders. Software or documents covered by industrial property rights, such as patents, trademarks, registered designs, logos, and names, are excluded from BioMarin\u2019s reuse policy and are not licensed to you.<\/p>\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n

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Literature review: April\u2013June 2025\n<\/h2>\n

Our April\u2013June 2025 literature review identified six key papers. Hergenr\u00f6ther et al<\/em>. evaluated gait parameters in children with achondroplasia (ACH) compared with children of average height. Fauroux et al<\/em>. developed five guiding principles to help HCPs manage sleep-disordered breathing in people with ACH. Sawamura et al. <\/em>demonstrated that vosoritide treatment improved spinal and lower limb malalignment in people with ACH. Full deck summaries are also available for these three publications.<\/p>\n

Masarwy et al<\/em>. established normal craniocervical junction parameters using magnetic resonance imaging to evaluate cervical stenosis. Adedeji et al<\/em>. reviewed coping and quality of life of parents of children with ACH and finally, Rua et al<\/em>. conducted a retrospective cohort study in Portugal to evaluate the real-world safety and effectiveness of vosoritide.<\/p>\n

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Literature Review \u2013 November 2024<\/span>\n<\/h2>\n

There were three papers selected from our November literature search. In our first paper, Trautwein et al. reviewed magnetic resonance imaging scans from children with and without achondroplasia to expand on the achondroplasia foramen magnum score system. Our second paper by Rico-Llanos et al. compared the effects of infigratinib given immediately after birth with therapy started later. Our final selection by Savarirayan et al. evaluated safety and efficacy of oral infigratinib in children.<\/span><\/p>\n

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Literature Review \u2013 August 2024\n<\/h2>\n

There was one paper highlighted in our August literature search. Cheung et al. carried out a retrospective cohort study from two tertiary care centres of 22 infants with achondroplasia foramen magnum score (AFMS)3, with the aim of describing the natural history of FMS in these children. Results from follow up scans showed that while AFMS3 improved or remained stable in 59% of infants, in 41% the score progressed to AFMS4, indicating a need for neurosurgery. The results of this study support screening for foramen magnum stenosis in infants and suggests follow up imaging after 6 months in children with an initial classification of AFMS3.<\/p>\n

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Literature Review \u2013 Vosoritide\u25bc\u00a0and health-related quality of life in children with achondroplasia\n<\/h2>\n

A short literature review summary of the key paper \u2018Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life\u2019<\/p>\n

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Literature Review \u2013 July 2024<\/strong>\n<\/h2>\n

There was one paper highlighted in our July literature search. Adedeji et al<\/em>. performed a systematic review of 53 studies published from 1998 to 2023, focussing on evaluating health-related quality of life in paediatric patients with short stature. They found that while disease-specific measures offer a detailed insight into the unique challenges faced by paediatric patients with short stature, the incorporation of generic measures provides a broader context for understanding overall well-being, and allows for easier comparisons with other patient populations. There also remains a need for further research to better understand developmental and social aspects of health-related quality of life among paediatric populations with short stature.<\/p>\n

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Literature Review \u2013 May 2024\n<\/h2>\n

There was one paper highlighted in our May literature search. Fredwall et al. report on a patient-held checklist to support the care of adults with achondroplasia developed by the European Achondroplasia Forum. The checklist includes information on the key complications of achondroplasia in adulthood, spinal stenosis and obstructive sleep apnoea, the symptoms to be aware of, and the actions to be taken to ensure timely referral to specialists. The EAF propose the checklist be delivered to individuals during the transition from paediatric to adult care, to empower people to manage their own care throughout adulthood.<\/p>\n

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Literature Review \u2013 April 2024<\/strong>\n<\/h2>\n

One paper was highlighted in our April literature highlights. Savarirayan et al. review the clinical and genetic hallmarks of achondroplasia, along with its natural history and impact on a patient\u2019s life, before focusing on the new and emerging drug therapies that target the underlying parthenogenesis of achondroplasia.<\/p>\n

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Literature Review \u2013 September 2023\n<\/h2>\n

Three papers were highlighted in our September literature highlights. Onesimo,\u00a0et al.\u00a0<\/em>describe a systematic review on how pain can affect children and adults with achondroplasia. The second paper by Semler,\u00a0et al.<\/em> explores the early experience and considerations in clinical practice for vosoritide\u25bc therapy in children with Achondroplasia. Finally, Wright\u00a0et al.<\/em>\u00a0present an opinion paper by the European Society of Paediatric Radiology and European Society of Neuroradiology on the recommendations for neuroradiologic examinations in children with achondroplasia.<\/p>\n

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Literature Review \u2013 March 2023\n<\/h2>\n

Two papers were highlighted in our March literature review. The first by Mohamed Maghnie reviewing the lifetime impact of achondroplasia study in Europe (LIASE study). The second paper by NiMhurchadha S et al.<\/em> reports parent experiences of administering vosoritide in children aged >2 years of age with achondroplasia.<\/p>\n

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Literature Review \u2013 February 2023\n<\/h2>\n

Two papers were highlighted in our February literature review. The first by Chan et al. reviewing perioperative complications following spine surgery in adult patients with achondroplasia. The second paper by Yukako Nakano and colleagues on the other hand assessed body fat mass, anthropometric measurements and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia.<\/p>\n

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Literature Review \u2013 November & December 2022\n<\/h2>\n

One paper was highlighted in our November and December literature review. Authored by Balci and colleagues, they retrospectively investigated and compared patients with achondroplasia who underwent bilateral simultaneous and consecutive lengthening surgery of the femur and tibia in terms of the effect on physeal growth. The authors hypothesise that compared with the sequential lengthening technique, simultaneous lengthening of the bilateral femur and tibia affects physeal growth to a greater extent. EU-ACH-00761<\/p>\n

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Literature Review \u2013 September & October 2022\n<\/h2>\n

Five papers were highlighted in our September and October literature review. The first by Savarirayan and colleagues who discuss growth parameters in children with achondroplasia in a 7-year study. The second paper by Stoll et al.<\/em>, discusses the associated anomalies in cases with achondroplasia. Cheung et al., discusses the workshop from the 2nd ICCBH-ERN BOND spinal complications in children and adults with ACH workshop. The fourth paper by Dorney and colleagues reviews the epidemiology of Eustachian tube dysfunction and related otologic diagnoses among children with ACH. The last paper explores the relationship between limb lengthening rate and callus quality in patients with ACH. EU-ACH-00754<\/p>\n

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Literature Review March & April 2022\n<\/h2>\n

Four papers were highlighted in our March and April literature review. The first by Alonso-Hern\u00e1ndez and colleagues analyses the outcomes and complications after reusing the same TIMN for a second consecutive lengthening in patients with achondroplasia. The second paper focuses on the rates of medical complications in children with achondroplasia. The paper by Calandrelli et al.<\/em>, reviews MRI-based quantitative assessment in analysing craniofacial variables linked to the development of sleep-disordered breathing. The last paper explores the use of collagen X marker levels to study the impact of skeletal dysplasia on growth plate regulation and function. EU-ACH-00538<\/p>\n

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Literature Review January & February 2022\n<\/h2>\n

Four papers were highlighted in our January literature review. The first by Kitoh and colleagues describes the disease-specific complications and multidisciplinary interventions in achondroplasia. The second paper reports the CNP-induced PKA activation promotes endochondral bone formation in hypertrophic chondrocytes, published by Hirota and colleagues. The next paper by Ajimi A et al, outlines inconvenience and adaptation in Japanese adult achondroplasia and hypochondroplasia patients. The final paper by Fano V et al, assesses the impact of achondroplasia on Latin American patients via a systematic review and meta-analysis of observational studies.<\/p>\n

There were two papers covered in our February literature review. Shediac and their colleagues describe the results of a qualitative study into the experiences of children and adolescents living with achondroplasia, as well as their caregivers. The second paper is a study from Chan and their colleagues who present the PK and exposure-response of VOXZOGO\u00ae \u25bc (vosoritide) in children with achondroplasia.<\/p>\n

EU-VOX-00456 05\/22<\/p>\n

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Literature Review December 2021\n<\/h2>\n

Description: Four papers were highlighted in our December literature review. The first by Hoover-Fong and colleagues describes the growth in achondroplasia including stature, weight, weight-for-height, and head circumference using the CLARITY study. The second paper reports evidence of feedback regulations of C-type natriuretic peptide during VOXZOGO\u00ae\u25bc (vosoritide) therapy in achondroplasia, published by Prickett and colleagues. The next paper by Kim J et al, outlines hydrocephalus in achondroplasia evaluating the efficacy of endoscopic third ventriculostomy. The final paper assesses the surgical treatment of spinal stenosis in achondroplasia with results from adults and paediatrics. EU-VOX-00377<\/p>\n

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