Literature Review

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Literature Review – August 2024

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.

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Persistent growth-promoting effects of vosoritide▼ in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life

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Literature Review – October 2024

Savarirayan et al. assessed the impact of vosoritide on growth-associated health-related quality of life (HRQoL) in children with achondroplasia. Data were gathered using the Quality of Life in Short Stature Youth (QoLISSY) questionnaire. Vosoritide improved self-reported and caregiver-reported QoLISSY physical and social scores, with the greatest increases being seen in participants with a ≥ 1 SD increase in height Z-score.

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Literature Review – September 2024

A short literature review summary of the key paper ‘Persistent growth-promoting effects of vosoritide▼ in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life’

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Persistent growth-promoting effects of vosoritide▼ in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life

Savarirayan et al. assessed the impact of vosoritide on growth-associated health-related quality of life (HRQoL) in children with achondroplasia. Data were gathered using the Quality of Life in Short Stature Youth (QoLISSY) questionnaire. Vosoritide improved self-reported and caregiver-reported QoLISSY physical and social scores, with the greatest increases being seen in participants with a ≥ 1 SD increase in height Z-score…

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Literature Review

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Literature Review – July 2024

There was one paper highlighted in our July literature search. Adedeji et al. 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.

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Literature Review – May 2024

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.

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Growth-promoting effects of vosoritide^▼ in children with achondroplasia aged ≥10 years at treatment initiation: Results from a Phase 3 extension study

In this study, Savarirayan and colleagues report the efficacy and safety of vosoritide in children aged 10 years or older. Data was gathered from BMN 111-301 (a 52-week, phase 3, placebo-controlled trial) and BMN 111-302 (an open-label extension study) with the objective of evaluating the long-term safety, tolerability, and efficacy of daily subcutaneous injections of vosoritide.

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Literature Review – April 2024

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’s life, before focusing on the new and emerging drug therapies that target the underlying parthenogenesis of achondroplasia.

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Persistence of Growth Promoting Effects in Infants and Toddlers with Achondroplasia

Results from a Phase II Extension Study with Vosoritide▼

Vosoritide was well tolerated and maintained positive effects on linear growth over time in patients with achondroplasia (ACH).

ACH is the most common form of disproportionate short stature, caused by a pathogenic variant in FGFR3 that leads to impaired endochondral bone growth and multiple complications. CNP down-regulates aberrant FGFR3 signalling in chondrocytes by inhibiting the MAPK-ERK pathway. Vosoritide is a targeted therapy for ACH, based on naturally occurring CNP and engineered to resist degradation and increase the half-life.

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How Pain Affects Real Life of Children and Adults With Achondroplasia: A Systematic Review

This systematic review concluded that pain is by no means negligible in people with achondroplasia. After reviewing 192 papers, the authors believe that systematic pain assessment contributes to the optimal management of physical symptoms and their psychosocial correlates, which could enhance quality of life.

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Recommendations for Neuroradiological Examinations in Children Living With Achondroplasia: A European Society of Pediatric Radiology and European Society of Neuroradiology Opinion Paper

In this opinion paper, the European Society of Pediatric Radiology (ESPR) and European Society of Neuroradiology (ESNR) propose imaging protocols and follow-up for evaluating neuroanatomy in children with achondroplasia. A preference is given to magnetic resonance imaging (MRI), with caveats against the routine use of computed tomography (CT), conventional radiography, and vascular imaging. Emphasis has been placed on reducing scan times, and avoiding unnecessary radiation exposure.

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Early Experience and Practical Considerations for Clinical Practice

Vosoritide▼ Therapy in Children with Achondroplasia

A group of experts with early experience of vosoritide conclude that the early real-world experience is generally positive, but that sharing key insights will help to increase understanding and highlight optimal ways to manage vosoritide in clinical practice.

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Higher Rates of Non‑Skeletal Complications and Greater Healthcare Needs in Achondroplasia Compared to the General UK Population: A Matched Cohort Study Using the CPRD Database

Two papers were highlighted in our July literature highlights. Irving, et al. describe the guiding principles for the detection and management of FMS developed by the European Achondroplasia Forum. The second paper by Pimenta, et al. compares skeletal and non-skeletal complications in individuals with achondroplasia and matched controls in a UK population.

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European Achondroplasia Forum Guiding Principles for the Detection and Management of Foramen Magnum Stenosis

Foramen magnum stenosis (FMS) is a serious and potentially life-threatening complication of achondroplasia. Narrowing of the foramen magnum can lead to compression of the brainstem and spinal cord and can result in sleep apnoea and sudden death. There is a lack of clarity in the literature on the timing of regular monitoring of FMS, assessments that should be carried out and when regular screening can stop.

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Burden and Treatment of Achondroplasia: A Systematic Literature Review

This SLR provides a comprehensive overview of the current burden and treatment landscape for achondroplasia, along with areas where evidence is lacking. The results highlight that achondroplasia has substantial burden in terms of patient HRQoL, burden on caregivers and economic burden on healthcare systems and individuals.

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Real World Evidence in Achondroplasia: Considerations for a Standardized Data Set

Long-term, high-quality data are needed for this rare, multifaceted condition. Establishing registries that collect predefined data elements across age spans will provide contemporaneous prospective and longitudinal information and will be useful to improve clinical decision-making and management. Pooling data across countries will allow comparison of clinical outcomes associated with achondroplasia and different therapeutic approaches.

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Craniofacial Growth and Function in Achondroplasia: A Multimodal 3D Study on 15 Patients

This retrospective study shows an aggravation of craniofacial phenotypes during growth, and demonstrates an anatomo-functional correlation between the severity of midface and mandible craniofacial features and obstructive sleep apnea syndrome.

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A Daily Injectable for Children with Achondroplasia

Parents’ Experience of Administering Vosoritide▼

This study showed that while there are challenges with daily vosoritide injections, parents are prepared to overcome short-term treatment challenges in return for future gains for their children in regards to health and functional independence. Children with achondroplasia and their parents are resilient, and highly motivated to improve their quality of life.

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Lifetime Impact of Achondroplasia Study in Europe (LIAISE): Findings From a Multinational Observational Study

The findings of this retrospective, observational study suggest that individuals with achondroplasia experience a range of serious complications throughout their lives. This has resulted in a high levels of healthcare resource needs and reduced quality of life.

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Assessment of Body Fat Mass, Anthropometric Measurement and Cardiometabolic Risk in Children and Adolescents with Achondroplasia and Hypochondroplasia

Individual cardiometabolic risk factors should be evaluated in addition to weight gain and hip/height changes to help avoid cardiometabolic events in the healthcare management of paediatric patients with ACH or HCH.

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Perioperative Complications Following Spine Surgery in Adult Patients with Achondroplasia

This large series evaluating perioperative complications and potential risk factors in people with achondroplasia found that thoracolumbar surgeries were at the greatest risk for durotomies. In addition, male sex was a risk factor for durotomy, while age was a risk factor for neurologic deficit.

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Australian Guidelines for the Management of Children With Achondroplasia

The Australian consensus statements presented are underpinned by Australian data and the NHMRC GRADE system. They are applicable across healthcare settings and geographical regions. These guidelines are intended for use by HCPs, children and young people with achondroplasia and their families living in Australia. These guidelines are for the management of unmodified ACH.

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EU-ACH-00765

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Meeting Report from 2nd ICCBH-ERN BOND Spinal Complications in Children and Adults with Achondroplasia Workshop, Dublin, Ireland, 2nd July 2022

A pre-meeting workshop on spinal complications in children and adults with achondroplasia was held in Dublin, Ireland at the 10th ICCBH 2-5 July 2022. The pathophysiology, natural history and medical/surgical management of thoraco-lumbar kyphosis and spinal stenosis remains poorly described in the literature. Positive outcomes from this workshop were a greater understanding of the natural history across the lifespan of the patients and a high level of international engagement on this subject. better awareness of the early signs and symptoms of spinal stenosis was disseminated and the options of types of bracing and timings of bracing that might be considered were shared by the experts.

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National Burden of Achondroplasia: An Analysis of The National Inpatient and Nationwide Ambulatory Surgery Samples

In this retrospective US study, the most frequent hospital admissions in people with achondroplasia were neonatal care in children and musculoskeletal in adults.

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Experiences of Children and Adolescents Living With Achondroplasia and Their Caregivers

ACH leads to significant multisystem complications across the lifespan, which may affect the HRQoL of individuals and families living with the condition.

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Optimising Care and Follow‑Up of Adults With Achondroplasia

Guiding principles for the management of achondroplasia recommend diagnosis as early as possible, with referral as soon as possible. Yet this exploratory audit from the European Achondroplasia Forum found only 18% of children are referred at the point of diagnosis.

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Disease-Specific Complications and Multidisciplinary Interventions in Achondroplasia

Achondroplasia is associated with many complications throughout the life course. Effective management of some aspects during childhood can improve quality of life in adulthood. This study suggests that treatment strategies for children with achondroplasia should target a final height of at least 140 cm, since this has an effect on physical function.

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Pharmacokinetics and Exposure

Response of Vosoritide▼ in Children With Achondroplasia

VOXZOGO^® (vosoritide), a CNP analog, has been developed for the treatment of children with ACH.

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Achondroplasia in Latin America: Practical Recommendations For the Multidisciplinary Care of Pediatric Patients

Experts from across Latin America developed recommendations for the management of achondroplasia covering the range of outcomes across different body systems.

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Medical Complications in Children With Achondroplasia

Children with achondroplasia have a high burden of medical complications and interventions, and a mortality rate of 2%. This retrospective study reports contemporary rates of medical complications in an Australian population of children and gives recommendations for surveillance in clinical practice.

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Optimising the Diagnosis and Referral of Achondroplasia in Europe: European Achondroplasia Forum Best Practice Recommendations

Guiding principles for the management of achondroplasia recommend diagnosis as early as possible, with referral as soon as possible. Yet this exploratory audit from the European Achondroplasia Forum found only 18% of children are referred at the point of diagnosis.

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Comprehensive Literature Review on the Prevalence of Comorbid Conditions in Patients With Achondroplasia

This review evaluated over 70 publications identifying important comorbidity patterns by age.

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Growth Parameters in Children with Achondroplasia: A 7-Year, Prospective, Multinational, Observational Study

This prospective study serves as a robust historical control to measure therapeutic interventions against and to further delineate the natural history of this condition.

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Milestones in Achondroplasia

This work aims to summarise key historical papers relevant to achondroplasia in a series of slides presenting a timeline of the understanding of the disorder throughout history. The slides identify key findings of papers, highlighting milestones in diagnosis, development of therapies, and QoL.

EU-VOX-00220

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C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia

Achondroplasia inhibits endochondral ossification. Vosoritide is a biologic analogue of C-type natriuretic peptide – a potent stimulator of endochondral ossification. Animal models have shown that once-daily vosoritide promotes long-bone growth, and corrects the dwarfism phenotype in mice with achondroplasia.

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Growth in Achondroplasia Including Stature, Weight, Weight‑for‑Height and Head Circumference From CLARITY: Achondroplasia Natural History Study – A Multi‑center Retrospective Cohort Study of Achondroplasia in the US

Data collected in the CLARITY study have been used to develop new growth curves. These will support clinical practice and research for people with achondroplasia.

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A Qualitative Study of The Impacts of Having an Infant or Young Child With Achondroplasia on Parent Well‑Being

This is the first study to look at how having a child with achondroplasia impacts parental well-being. Read more

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Results from an Early Access Program in France

Real-World Safety and Effectiveness of Vosoritide▼

In August 2021, the EMA approved vosoritide for treating ACH in patients aged ≥2 years until closure of epiphyses. In France, a cohort Temporary Authorisation for Use was granted in June 2021. This cohort transitioned to an authorised early-access program in December 2021.

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Functioning and well-being in older children and adolescents with achondroplasia: A qualitative study

This qualitative study aimed to explore how achondroplasia affects day-to-day functioning and well-being in older children and adolescents. The results revealed five key impact domains, and a theoretical model was developed depicting the experiences.

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Hearing loss in Norwegian adults with Achondroplasia

People with achondroplasia are at increased risk of early hearing loss. This may be caused by changes in endochondral bone growth, including the craniofacial anatomy, which puts people with achondroplasia at high risk of middle ear disease and hearing loss.

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Quality of Life, Physical Functioning, and Psychosocial Function Among Patients With Achondroplasia: A Targeted Literature Review

The short stature, shortened limbs, and medical complications typical of ACH substantially impact both physical and psychosocial aspects of daily life from a very early age. Although clinical features and medical complications have been well described, functional and psychosocial aspects have received less attention.

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Achondroplasia Natural History Study (CLARITY)

The CLARITY results show a pattern of earlier diagnosis in modern patients, with the majority born in 2010 or later diagnosed prenatally or at birth. Over three-quarters have received surgery, and many have obstructive sleep apnoea. This natural history cohort represents an important reference population.

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Once-daily, Subcutaneous Therapy in Children with Achondroplasia

This Phase 3 study randomised 121 children to vosoritide▼ or placebo for 52 weeks.

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Pubertal Growth in Height, Sitting Height and Leg Length in Achondroplasia

Children with achondroplasia experience a growth spurt in puberty, but as well as being only half that of control children, the spurt in achondroplasia is due entirely to sitting height, not leg length.

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Impact of Short Stature on Quality of Life: A Systematic Literature Review

This systematic literature review examined 41 studies to gain a better understanding of the burden of short stature. Short stature poses physical challenges and may result in poorer quality of life (QoL) compared to people with normal stature.

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Lifetime Impact of Achondroplasia: Current Evidence and Perspectives on the Natural History

This review summarises current knowledge on the nature, incidence, chronology, and interrelationships of achondroplasia-related comorbidities across the lifespan, but also highlights key knowledge gaps and areas for future research.

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The First European Consensus on Principles of Management for Achondroplasia

The management of achondroplasia is multifaceted and currently there is an unmet need regarding delivery of care.

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Literature Review

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Literature Review – September 2023

Three papers were highlighted in our September literature highlights. Onesimo, et al. describe a systematic review on how pain can affect children and adults with achondroplasia. The second paper by Semler, et al. explores the early experience and considerations in clinical practice for vosoritide▼ therapy in children with Achondroplasia. Finally, Wright et al. present 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.

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Literature Review – July 2023

Two papers were highlighted in our July literature highlights. Irving, et al. describe the guiding principles for the detection and management of FMS developed by the European Achondroplasia Forum. The second paper by Pimenta, et al. compares skeletal and non-skeletal complications in individuals with achondroplasia and matched controls in a UK population.

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Literature Review – June 2023

Two papers were highlighted in our June literature highlights. Alanay and colleagues investigates the real-world evidence in achondroplasia and the considerations for a standardised data set. The second paper by Murton, et al. describes the burden and treatment of achondroplasia via a systematic literature review.

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Literature Review – May 2023

One paper was highlighted in our May literature highlights. A perspective paper by Dardenne, et al. highlights the mechanism of action, benefit, and potential mechanistic limitations of the drugs currently being evaluated in clinical trials for achondroplasia.

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Literature Review – April 2023

One paper was highlighted in our April literature review. Authored by Morice and colleagues, they discussed the correlation between craniofacial growth in achondroplasia and obstructive sleep apnoea has not been assessed. Providing a multimodal analysis of correlations between craniofacial features and severity of obstructive sleep apnoea syndrome.

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Literature Review – March 2023

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. reports parent experiences of administering vosoritide in children aged >2 years of age with achondroplasia.

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Literature Review – February 2023

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.

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Literature Review – January 2023

One paper was highlighted in our January literature review. Authored by Tofts and colleagues, they discussed the Australian focused guidelines intended for use by health professionals and children and young people with ACH and their families living in Australia. The consensus statements presented are underpinned by Australian data and the NHMRC GRADE system. They are applicable across healthcare settings and geographical regions. These guidelines are for the management of unmodified ACH. EU-ACH-00766

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Literature Review – November & December 2022

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

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Literature Review – September & October 2022

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., 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

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Literature Review March & April 2022

Four papers were highlighted in our March and April literature review. The first by Alonso-Hernández 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., 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

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Literature Review January & February 2022

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.

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® ▼ (vosoritide) in children with achondroplasia.

EU-VOX-00456 05/22

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Literature Review December 2021

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®▼ (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

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Literature Review September 2021

Three papers were highlighted in our September literature review. The first by Ergoren and colleagues reports the psychomotor delays in a child with FGFR3 G380R pathogenic mutation causing achondroplasia. The second paper published by Harold Moore and colleagues examined the short-term complications and intermediate-term implant survival after joint replacement. The final paper from Chaudhry Chakshu and colleagues is the first report from India of a rare FGFR3 gene variant in an infant who was managed as failure to thrive at multiple centres. EU-ACH-00295

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Literature Review August 2021

Three papers were highlighted in our August literature review. Constantinides and colleagues conducted a targeted literature review examining a variety of factors which may affect the quality of life in patients with achondroplasia. The second paper by Pfeiffer and colleagues discusses the impact on parent well-being of having a young child with achondroplasia. Finally, Chan and colleagues report on the pharmacokinetics and safety profile endpoints of two clinical trials on the response of vosoritide▼ in children with achondroplasia. EU-VOX-00284

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Literature Review June 2021

Two papers were covered in our June 2021 Literature review. In the first paper, Legare and colleagues determine the incidence of cervicomedullary decompression, and the characteristics associated with surgery with 60-year natural history data from the CLARITY study. Xu and colleagues identify a novel FGFR3 intronic variant that disrupts mRNA splicing causing FGFR3-related skeletal dysplasia, suggesting the variant be included in genetic testing. EU-ACH-00188 09/21

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International Consensus Statement on Diagnosis, Multidisciplinary Management, and Life-Long Care For Individuals With Achondroplasia

This work represents the first global effort to standardise care for individuals with achondroplasia (ACH) across the lifespan and specialty areas.

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