RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Achondroplasia: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Evaluation of sleep-related breathing disorders and polysomnography findings in pediatric patients with achondroplasia.
Atan Habacı Raziye et al., European journal of pediatrics (15 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42878887/
- 2.
Real-world evidence of vosoritide treatment in children under 2 years of age with achondroplasia in Colombia: a cases series
Leon MC et al., Research Square (14 October 2026)
https://doi.org/10.21203/rs.3.rs-11134395/v1
- 3.
Ped endo journal scan
Sukanya Priyadarshini et al., Journal of Pediatric Endocrinology and Diabetes (13 October 2026)
https://doi.org/10.25259/jped_154_2026
- 4.
Vosoritide (Voxzogo)
CDA-AMC, Canadian Journal of Health Technologies (9 October 2026)
https://doi.org/10.51731/cjht.2026.1536
- 5.
Retinal Structural and Microvascular Findings During Novel NPR-B-Targeted Vosoritide Therapy in Children with Achondroplasia.
Ağaçkesen Anıl et al., Journal of clinical medicine (3 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42882122/
Clinical Trials : Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials. Each has its ID and full eligibility criteria at the link shown.
- 1.
Study to Evaluate the Efficacy and Safety of BMN 333 Versus Vosoritide in Children With Achondroplasia
NCT07441876 · Recruiting · Phase 2 / Phase 3 · BioMarin Pharmaceutical
Ages 2 to 17
https://clinicaltrials.gov/study/NCT07441876
- 2.
Interventional Study of Infigratinib in Children < 3 Years Old With Achondroplasia (ACH)
NCT07169279 · Recruiting · Phase 2 · QED Therapeutics, a BridgeBio company
Ages 0 to 32 Months
https://clinicaltrials.gov/study/NCT07169279
- 3.
A Study of TYRA-300 in Children With Achondroplasia: BEACH301
NCT06842355 · Recruiting · Phase 2 · Tyra Biosciences, Inc
Ages 3 to 10
https://clinicaltrials.gov/study/NCT06842355
- 4.
A Clinical Trial to Evaluate Efficacy and Safety of TransCon CNP Compared With Placebo in Infants (0 to <2 Years of Age) With Achondroplasia
NCT06079398 · Recruiting · Phase 2 · Ascendis Pharma A/S
Ages 0 to 2
https://clinicaltrials.gov/study/NCT06079398
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Achondroplasia
Achondroplasia is the most common inherited cause of disproportionate short stature. It affects how cartilage turns into bone, particularly in the arms, legs and skull base. It is usually caused by a change in the FGFR3 gene. Care focuses on monitoring for complications such as spinal and breathing problems, with surgery when needed. Newer medicines that promote bone growth are available or being studied.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
PURPOSE: To describe sleep-disordered breathing in children with achondroplasia at their first polysomnography (PSG) assessment and examine associations with clinical characteristics. METHODS: This retrospective study included 49 children evaluated between March 2016 and February 2025. Obstructive sleep apnea syndrome (OSAS) was classified using the obstructive apnea-hypopnea index (oAHI). Total AHI was compared according to sex, upper airway surgery history, foramen magnum stenosis, and vosoritide treatment. Infant findings were also presented separately because severity thresholds require cautious interpretation at this age. RESULTS: Median age was 4.48 years (range, 0.22-16.15). OSAS was identified in 39 children (79.6%); 25 (51.0%) met the study criteria for moderate-to-severe disease. Of 15 children without reported sleep-related symptoms, 12 (80.0%) had OSAS, including seven (46.7%) with moderate-to-severe disease. Three children had a central apnea index ≥ 5 events/hour, and two (4.1%) had nocturnal hypoventilation. Total AHI did not differ significantly by sex, surgery history, or foramen magnum stenosis. Median total AHI was 3.2 events/hour in children receiving vosoritide and 6.9 in those not receiving treatment (p = 0.105). CONCLUSION: OSAS was common at the first PSG assessment and was also found in children without reported symptoms. These findings support objective sleep assessment in achondroplasia. The retrospective design and age-dependent interpretation of infant PSG limit conclusions about prevalence and severity; the study cannot establish a respiratory effect of vosoritide. WHAT IS KNOWN: • Achondroplasia increases the risk of obstructive and central sleep apnea. • Reported symptoms may not reliably identify sleep-disordered breathing. WHAT IS NEW: • At first PSG, 12/15 children without reported symptoms had OSAS; 7 had moderate-to-severe disease. • Total AHI did not differ significantly by vosoritide treatment status.
Common Questions
What is Achondroplasia?
Achondroplasia is the most common inherited cause of disproportionate short stature. It affects how cartilage turns into bone, particularly in the arms, legs and skull base. It is usually caused by a change in the FGFR3 gene. Care focuses on monitoring for complications such as spinal and breathing problems, with surgery when needed. Newer medicines that promote bone growth are available or being studied.
How many clinical trials are available for Achondroplasia?
RareWays currently indexes 26 clinical trials for Achondroplasia, of which 4 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Achondroplasia come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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