Early Neonatal Administration of Vosoritide in Achondroplasia: A Report of Two Cases.

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος:	Early Neonatal Administration of Vosoritide in Achondroplasia: A Report of Two Cases.
Συγγραφείς:	Sano S; Department of Diabetes and Metabolism, Shizuoka Children's Hospital, Shizuoka, Japan.; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan., Murai Y; Department of Diabetes and Metabolism, Shizuoka Children's Hospital, Shizuoka, Japan., Shimizu K; Division of Genetics, Shizuoka Children's Hospital, Shizuoka, Japan., Nagai Y; Department of Neurosurgery, Shizuoka Children's Hospital, Shizuoka, Japan., Ishizaki R; Department of Neurosurgery, Shizuoka Children's Hospital, Shizuoka, Japan., Honda Y; Department of Premature and Neonatal Medicine, Iwaki City Medical Center, Fukushima, Japan.
Πηγή:	American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jul; Vol. 200 (7), pp. 1710-1715. Date of Electronic Publication: 2026 Mar 11.
Τύπος έκδοσης:	Case Reports; Journal Article
Γλώσσα:	English
Στοιχεία περιοδικού:	Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Imprint Name(s):	Publication: Hoboken, N.J. : Wiley-Blackwell Original Publication: Hoboken, N.J. : Wiley-Liss, c2003-
Ιατρικοί όροι (MeSH):	Achondroplasia/drug therapy , Achondroplasia/genetics , Achondroplasia/diagnosis , Achondroplasia/pathology , Natriuretic Peptide, C-Type/administration & dosage , Natriuretic Peptide, C-Type/therapeutic use , Natriuretic Peptide, C-Type*/analogs & derivatives, Receptor, Fibroblast Growth Factor, Type 3/genetics ; Receptor, Fibroblast Growth Factor, Type 3/antagonists & inhibitors ; Humans ; Infant, Newborn ; Female ; Male ; Magnetic Resonance Imaging ; Infant ; Treatment Outcome
Περίληψη:	Vosoritide, a C-type natriuretic peptide analogue that inhibits FGFR3 signaling, is approved for the treatment of achondroplasia (ACH) from birth in Japan, Australia, and the United States; however, data on neonatal use remain limited. We report two infants with genetically confirmed ACH who received daily subcutaneous vosoritide starting on postnatal days 8 and 9, representing the earliest initiation reported to date. Both patients tolerated treatment in the short term without serious adverse events during inpatient or outpatient monitoring. Despite early initiation, serial magnetic resonance imaging demonstrated progressive foramen magnum stenosis during infancy, and both patients required decompression surgery at 9 and 5 months of age, respectively, consistent with the known natural history of ACH, with an uncomplicated postoperative course in both cases. Growth trajectories, assessed by growth velocity (GV), were generally above the ACH-specific reference medians at comparable ages, while the characteristic slowing of GV during infancy was preserved. These observations are descriptive and hypothesis-generating only and do not support changes in current clinical practice. Further data are required to clarify the potential benefits and limitations of initiating vosoritide therapy during the neonatal period. (© 2026 Wiley Periodicals LLC.)
References:	Benglis, D. M., and D. I. Sandberg. 2007. “Acute Neurological Deficit After Minor Trauma in an Infant With Achondroplasia and Cervicomedullary Compression. Case Report and Review of the Literature.” Journal of Neurosurgery 107: 152–155. https://doi.org/10.3171/ped‐07/08/152. Cebeci, A. N., S. Hebert, H. Reutter, O. Rompel, and J. Woelfle. 2024. “SIADH as a Rare Complication of Foramen Magnum Stenosis in an Infant With Achondroplasia.” JCEM Case Reports 2: luae144. https://doi.org/10.1210/jcemcr/luae144. Cheung, M. S., M. Irving, A. Cocca, et al. 2021. “Achondroplasia Foramen Magnum Score: Screening Infants for Stenosis.” Archives of Disease in Childhood 106: 180–184. https://doi.org/10.1136/archdischild‐2020‐319625. Del Pino, M., V. Fano, and P. Adamo. 2019. “Height Growth Velocity During Infancy and Childhood in Achondroplasia.” American Journal of Medical Genetics. Part A 179: 1001–1009. https://doi.org/10.1002/ajmg.a.61120. Foreman, P. K., F. van Kessel, R. van Hoorn, J. van den Bosch, R. Shediac, and S. Landis. 2020. “Birth Prevalence of Achondroplasia: A Systematic Literature Review and Meta‐Analysis.” American Journal of Medical Genetics. Part A 182: 2297–2316. https://doi.org/10.1002/ajmg.a.61787. Gunji, Y., R. Aoki, N. Nagano, et al. 2025. “An Infant With Achondroplasia Worsening of the Foramen Magnum Stenosis During Early Vosoritide Treatment.” Pediatrics International 67: e70089. https://doi.org/10.1111/ped.70089. Hashmi, S. S., C. Gamble, J. Hoover‐Fong, et al. 2018. “Multicenter Study of Mortality in Achondroplasia.” American Journal of Medical Genetics. Part A 176: 2359–2364. https://doi.org/10.1002/ajmg.a.40528. Hoover‐Fong, J., M. S. Cheung, V. Fano, et al. 2021. “Lifetime Impact of Achondroplasia: Current Evidence and Perspectives on the Natural History.” Bone 146: 115872. https://doi.org/10.1016/j.bone.2021.115872. Ireland, P. J., S. Donaghey, J. McGill, et al. 2012. “Development in Children With Achondroplasia: A Prospective Clinical Cohort Study.” Developmental Medicine and Child Neurology 54: 532–537. https://doi.org/10.1111/j.1469‐8749.2012.04234.x. Irving, M., M. AlSayed, P. Arundel, et al. 2023. “European Achondroplasia Forum Guiding Principles for the Detection and Management of Foramen Magnum Stenosis.” Orphanet Journal of Rare Diseases 18: 219. https://doi.org/10.1186/s13023‐023‐02795‐2. Japan Pediatric Society, Japanese Society of Pediatric Anesthesiology, and Japanese Society of Pediatric Radiolog. 2020. “Joint Recommendations on Sedation for Pediatric MRI Examinations.” Journal of the Japan Pediatric Society 124: 771–805 [in Japanese]. Kubota, T., M. Adachi, T. Kitaoka, et al. 2020. “Clinical Practice Guidelines for Achondroplasia.” Clinical Pediatric Endocrinology 29: 25–42. https://doi.org/10.1297/cpe.29.25. Matsushita, T., W. R. Wilcox, Y. Y. Chan, et al. 2009. “FGFR3 Promotes Synchondrosis Closure and Fusion of Ossification Centers Through the MAPK Pathway.” Human Molecular Genetics 18: 227–240. https://doi.org/10.1093/hmg/ddn339. Nadel, J. L., D. A. Wilkinson, H. J. L. Garton, K. M. Muraszko, and C. O. Maher. 2019. “Screening and Surgery for Foramen Magnum Stenosis in Children With Achondroplasia: A Large, National Database Analysis.” Journal of Neurosurgery. Pediatrics 23: 374–380. https://doi.org/10.3171/2018.9.Peds18410. Ornitz, D. M., and L. Legeai‐Mallet. 2017. “Achondroplasia: Development, Pathogenesis, and Therapy.” Developmental Dynamics 246: 291–309. https://doi.org/10.1002/dvdy.24479. Pauli, R. M., C. I. Scott, E. R. Wassman Jr. , et al. 1984. “Apnea and Sudden Unexpected Death in Infants With Achondroplasia.” Journal of Pediatrics 104: 342–348. https://doi.org/10.1016/s0022‐3476(84)81092‐6. Rico‐Llanos, G., F. Spoutil, E. Blahova, et al. 2024. “Achondroplasia: Aligning Mouse Model With Human Clinical Studies Shows Crucial Importance of Immediate Postnatal Start of the Therapy.” Journal of Bone and Mineral Research 39: 1783–1792. https://doi.org/10.1093/jbmr/zjae173. Saitou, H., T. Kitaoka, T. Kubota, et al. 2024. “Clinical Outcomes and Medical Management of Achondroplasia in Japanese Children: A Retrospective Medical Record Review of Clinical Data.” American Journal of Medical Genetics. Part A 194: e63612. https://doi.org/10.1002/ajmg.a.63612. Savarirayan, R., J. Hoover‐Fong, K. Ozono, et al. 2025. “International Consensus Guidelines on the Implementation and Monitoring of Vosoritide Therapy in Individuals With Achondroplasia.” Nature Reviews. Endocrinology 21: 314–324. https://doi.org/10.1038/s41574‐024‐01074‐9. Savarirayan, R., P. Ireland, M. Irving, et al. 2022. “International Consensus Statement on the Diagnosis, Multidisciplinary Management and Lifelong Care of Individuals With Achondroplasia.” Nature Reviews. Endocrinology 18: 173–189. https://doi.org/10.1038/s41574‐021‐00595‐x. Savarirayan, R., M. Irving, C. A. Bacino, et al. 2019. “C‐Type Natriuretic Peptide Analogue Therapy in Children With Achondroplasia.” New England Journal of Medicine 381: 25–35. https://doi.org/10.1056/NEJMoa1813446. Savarirayan, R., L. Tofts, M. Irving, et al. 2020. “Once‐Daily, Subcutaneous Vosoritide Therapy in Children With Achondroplasia: A Randomised, Double‐Blind, Phase 3, Placebo‐Controlled, Multicentre Trial.” Lancet 396: 684–692. https://doi.org/10.1016/s0140‐6736(20)31541‐5. Savarirayan, R., W. R. Wilcox, P. Harmatz, et al. 2024. “Vosoritide Therapy in Children With Achondroplasia Aged 3‐59 Months: A Multinational, Randomised, Double‐Blind, Placebo‐Controlled, Phase 2 Trial.” Lancet Child Adolesc Health 8: 40–50. https://doi.org/10.1016/s2352‐4642(23)00265‐1. Tachibana, K. S. S., S. Nishiyama, and I. Matsuda. 1997. “Height Assessment in Children With Achondroplasia Based on a Nationwide Survey.” Shonika Shinryo 60: 1363–1369 [in Japanese].
Contributed Indexing:	Keywords: achondroplasia; foramen magnum stenosis; neonate; vosoritide
Substance Nomenclature:	7SE5582Q2P (vosoritide) 127869-51-6 (Natriuretic Peptide, C-Type) EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 3)
Entry Date(s):	Date Created: 20260311 Date Completed: 20260710 Latest Revision: 20260723
Update Code:	20260723
DOI:	10.1002/ajmg.a.70116
PMID:	41810698
Βάση Δεδομένων:	MEDLINE

Περιγραφή
ISSN:	1552-4833
DOI:	10.1002/ajmg.a.70116