ACMG Congress Review 2025

The 31st American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting took place in Los Angeles, USA, 18th–22nd March 2025, and was attended by approximately 3000 specialists in genetic conditions such as achondroplasia (ACH).

This congress review includes a symposium summary on the cause, natural history and complications of ACH, and the perspective of people with ACH and their caregivers. The abstract summaries include the latest data on medical therapies for the treatment of ACH, an investigation of suspected genetic causes of skeletal dysplasia, and an exploration of the value of sleep studies in ACH.

We hope this review provides you with valuable insights into the latest developments in ACH.
The Achondroplasia Team

EUCAN-VOX-00957

ESPE Congress Review 2024

The 62nd Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) took place in Liverpool, UK, from 16th–18th November 2024. The event brought together leading experts in paediatric endocrinology to exchange knowledge and advance the care of children with various endocrine disorders, including achondroplasia (ACH). As the understanding and treatment of ACH continues to evolve, addressing the complex needs of patients remains a key priority.

This congress review highlights recent advancements and ongoing research in the treatment of ACH, with presentations, symposia, abstracts, and posters from this year’s congress. Topics include real-world vosoritide data, emerging therapeutic options, bone and body composition, and the impact of healthcare resources and current outcome measures on patient monitoring.

We hope this review provides valuable insights into how the ACH community can contribute to addressing the global challenges in the management of this rare genetic condition.
The Achondroplasia Team

ICCBH Congress Review 2024

The 11th International Conference on Children’s Bone Health took place in Salzburg, Austria, from 22–25 June 2024 and was attended by 470 delegates from over 45 countries.

In this congress review, we have highlighted the key
abstracts from ICCBH, focusing on the clinical data
on vosoritide▼ and other therapies in development for
achondroplasia; as well as multidisciplinary management;
and the importance of following up infants with spinal cord
compression rated AFMS3. There is also a brief summary
of the ISCBH ERN BOND workshop.

We hope you find this summary of the congress useful.
The Achondroplasia Team

ACMG 2024 12-16 March 2024

The 30th American College of Medical Genetics and
Genomics (ACMG) Annual Clinical Genetics Meeting took
place in Toronto, Canada, from 12th–16th March 2024.
Attended by geneticists from around the world, this year’s
meeting saw achondroplasia on the programme in the
form of a debate featuring Dr Janet Legare and Dr Julie
Hoover-Fong discussing whether all patients should be
started on vosoritide▼.

We have highlighted the key abstracts from the congress,
focusing on achondroplasia and new clinical data on
vosoritide, real-world analysis of double heterozygosity
in skeletal dysplasia, and the importance of genetic
counselling in helping families make informed decisions
during prenatal diagnostic testing.

We hope you find this selection of summaries useful!
The Achondroplasia Team

EUCAN-VOX-00431 May 24

ESPE 2023-21-23 September 2023

The 61st annual meeting of the European Society for Paediatric Endocrinology (ESPE) took place in The Hague, Netherlands, from 21–23 September 2023. The theme for the meeting was Global Challenges in Paediatric Endocrinology, which included sessions on growth, as well as bone, growth plate, and mineral metabolism.

We have picked out abstracts with a focus on children with achondroplasia. This includes new clinical data, real-world analyses, and a look at the underlying genetics. Also summarised is a sponsored symposium, looking at integrating clinical and real-world evidence to improve strategies.

We hope this selection of summaries is useful to you, and perhaps shines a light on ways in which we can address global challenges in our own small corner of endocrinology.

EUCAN-VOX-00074 November 2023

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ACMG 2023-14-18 March 2023

March 2023 saw the Annual Clinical Genetics Meeting take place in Salt Lake City, US, attended by delegates from around the world. Across more than 50 educational sessions, presenters shared news about the latest developments in medical genetics.

Year on year the volume of data around achondroplasia at meetings like this is growing, alongside increasing awareness and understanding of the condition. We have chosen a handful of key abstracts presented in the session on clinical genetics and therapeutics. This includes data from the Phase 2 and 3 clinical trials of vosoritide , as well as real-world observational data that shines a spotlight on quality of life and the surgical burden associated with achondroplasia.

We hope you will enjoy the selection summarised for you here.

EU-VOX-00819 March 2023

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ESPE 2022-15-17 September 2022

The 60th annual meeting of the European Society for Paediatric Endocrinology took place 15–17 September in Rome, Italy. Over 3,000 delegates attended for a huge programme on diseases of childhood, including dedicated sessions on bone, growth, and mineral metabolism. We have chosen a selection of abstracts with a focus on achondroplasia and a few other topics of interest in the wider field of skeletal dysplasia. These include new analyses of appropriate patient-reported outcomes to use in children with achondroplasia, and examination of differences in everyday management.

Also summarised is a sponsored symposium giving more detail on some of the early-use, real-world cohorts of patients receiving vosoritide in routine practice across Europe.

We hope you will enjoy the selection of presentations summarised for you here.

EUCAN-VOX-00686 November 2024

ICCBH 2022-02-05 July 2022

The 10th International Conference on Children’s Bone Health took place in Dublin from 2–5 July 2022. The meeting brought together scientists, clinicians, and allied health professionals from a variety of disciplines to gain a better understanding of the growing skeleton in health and disease, with leading experts delivering new insights into both molecular mechanisms and a range of clinical aspects, from bone physiopathology to treatment.

As always, it is encouraging to see groups sharing posters and oral communications on the natural history and treatment of achondroplasia, which hopefully will translate into greater awareness and understanding of the condition.

ACMG 2022-22-26 March 2022

The Annual Clinical Genetics Meeting took place in March 2022 with attendees from around the globe, both in person and online.

Achondroplasia was brought under the spotlight in two oral presentations; one examining the impact of birth delivery methods on surgical morbidity, the second describing new trial data on growth velocity over pubertal milestones in children with achondroplasia treated with vosoritide . Dr Melita Irving and colleagues introduced new data on associations between height, HRQoL and functional independence in children with achondroplasia. Additionally, Professor Ravi Savarirayan showcased top-line results from a Modified Delphi study on the impact of achondroplasia on HRQoL, and long-term effects of vosoritide.

The discussions around achondroplasia at this meeting are extremely positive for this patient population and confirms the increasing awareness and understanding within the medical community. We hope you will enjoy the selection of presentations summarised for you here.

EPOS 2021

Our review of EPOS 2021 includes summaries of many advances in the treatment and management of achondroplasia. Our summaries include new technologies to improve limb lengthening, a complex procedure with a high complication rate and no consensus on its use in achondroplasia, but one that could result in height enhancement in adults with achondroplasia, nonetheless.

EU-VOX-00185 10/21

Our congress reviews provide an overview of the latest developments in achondroplasia.

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ACMG 2021

There were several interesting posters and an oral presentation presented during the meeting which covered key areas for the achondroplasia clinical community. The impact of the condition was discussed in two posters from the LIAISE study, focusing on the burden to individuals and their families. Details from the Achondroplasia Caregiver Survey reinforced the issue of healthcare utilisation and highlighted inconsistency of care globally.

Data from Australia demonstrated an apparent increase in prevalence and a decrease in the time to diagnosis in the last 20 years, and two posters on skeletal dysplasia suggested that gene panel testing may support accurate and timely diagnosis. Promising data from the extension study of the VOXZOGO^® (vosoritide) Phase 2 trial demonstrated an increase in AGV over 60 months and that the treatment was well tolerated.

It is encouraging to see a breadth of posters on achondroplasia and new therapies, which hopefully will translate into greater awareness and understanding of the condition.

EU-VOX-00184 10/21

ESPE 2021-22-26 September

Our review of ESPE 2021 highlights the latest in basic science, novel therapies, multidisciplinary team management, and recent findings around genetic characteristics and biomarkers.

Also included are summaries of the data presented for novel therapies such as infigratinib, TransCon CNP and the recently approved Voxzogo®▼ (vosoritide).

We are delighted to bring you these latest data, and hope this report helps you to stay up-to-date with the current developments in this field.