Poster

View content

• Congresses
• Noonan syndrome
• SHOX deficiency
• Turner syndrome
• American Society for Bone & Mineral Research (ASBMR)
• 2025

Criteria for defining inadequate response to growth hormone in Noonan syndrome, Turner syndrome, and SHOX deficiency

R. Rosenfeld, A. Dauber, K, Mohnike, L. Silverman, A. Low, M, Sheng, I. Sabir, N. Lyon, A. Huntsman Labed

View content

Poster

View content

• Congresses
• Achondroplasia
• American Society for Bone & Mineral Research (ASBMR)
• 2025

Effect of vosoritide on spine morphology in young children with achondroplasia: 1-year results from a double-blind, randomized phase 2 study

K. K. White, M. Irving, J. E. Hoover-Fong, S. Mukherjee, A. Dee, C. Rivat, I. Sabir, R. Savarirayan

View content

Poster

View content

• Congresses
• Achondroplasia
• American Society for Bone & Mineral Research (ASBMR)
• 2025

Continued growth after puberty in participants with achondroplasia treated with vosoritide in a phase 3 long-term extension trial

J. E. Hoover-Fong, A. Huntsman Labed, N. Lyon, P. F. Backeljauw, S. Mukherjee, K. Mohnike

View content

Poster

View content

• Congresses
• Achondroplasia
• American Society for Bone & Mineral Research (ASBMR)
• 2025

Effect of long-term vosoritide treatment in pediatric participants with achondroplasia on bone mineral density and bone content: results from quantitative computed tomography analyses

K. Engelke, T. Fuerst, C. Tang, A. Low, J. White

View content

Poster

View content

• Congresses
• Achondroplasia
• Human Genetics Society of Australasia (HGSA)
• 2025

Vosoritide improves tibial bowing in infants and toddlers with achondroplasia

K. White, M. Irving, C. Rivat, C. Milligan, S. Lawrinson, A. Huntsman Labed, I. Sabir, J. Day, R. Savarirayan

View content

Poster

View content

• Congresses
• Achondroplasia
• Japan Endocrine Society (JES)
• 2025

Real-world safety of vosoritide in children with achondroplasia in Japan

T. Kitaoka, S. Matsumoto, J. M. Pimenta, V. Horvathova, H. Tokuoka, T. Michigam

View content

Poster

View content

• Congresses
• Achondroplasia
• Pediatric Endocrine Society (PES)
• 2025

Vosoritide improves tibial bowing in infants and toddlers with achondroplasia

K. White, M. Irving, C. Rivat, C. Milligan, S. Lawrinson, A. Huntsman Labed, I. Sabir, J. Day, R. Savarirayan

View content

Poster

View content

• Congresses
• Turner syndrome
• Pediatric Endocrine Society (PES)
• 2025

Preliminary Assessment of Vosoritide for Short Stature in Turner Syndrome: 6-month data from a Clinical Trial

R. Kanakatti Shankar, N. Shafaei,  A. Zhang, K. Pitner, N. Dham, A. Dauber

View content

Poster

View content

• Congresses
• Hypochondroplasia
• Pediatric Endocrine Society (PES)
• 2025

IGF-1 Values in Hypochondroplasia and Effects of Vosoritide

D. M. Galetaki, A. Zhang, N. Merchant, R. Kanakatti Shankar, K. Pitner, N. Shafaei, R. Seaforth, A. Dauber

View content

Presentation

View content

• Congresses
• Achondroplasia
• European Society for Paediatric Endocrinology (EPSE)
• European Society of Endocrinology (ESE)
• 2025

Long-term height gain and maintenance of treatment effect in children with achondroplasia receiving vosoritide

Presenting Author: Ravi Savarirayan

J. E. Hoover-Fong, M. Irving, P. Harmatz, C. A. Bacino, I. Sabir, H. Liu, R. Rowell, N. Lyon, A. Huntsman Labed

View content

Poster

View content

• Congresses
• Idiopathic Short Stature (ISS)
• European Society for Paediatric Endocrinology (EPSE)
• European Society of Endocrinology (ESE)
• 2025

Design of a phase 2, randomized, controlled, multicentre study of vosoritide treatment in children with idiopathic short stature

M. Sheng, R. Rosenfeld, B. S. Miller, L. Silverman, A. Huntsman Labed, I. Sabir, A. Dauber

View content

Poster

View content

• Congresses
• Noonan syndrome
• SHOX deficiency
• Turner syndrome
• European Society for Paediatric Endocrinology (EPSE)
• European Society of Endocrinology (ESE)
• 2025

Design of a randomized, multicentre, phase 2 study of vosoritide in children with Turner syndrome, Noonan syndrome, or short stature homeobox-containing gene (SHOX) deficiency

A. Low, R. K. Shankar, B. S. Miller, L. Silverman, K. Mohnike, R. Rosenfeld, I. Sabir, A. Huntsman Labed, M. Li, A. Dauber

View content

Poster

View content

• Congresses
• Achondroplasia
• European Society for Paediatric Endocrinology (EPSE)
• European Society of Endocrinology (ESE)
• 2025

The Achondroplasia Roadmap: Connecting With the Community

M. Sessa, J. Sim-Sim, M. Skierkowska, A. V. Fraschina, F. Cornejo, S. Noval

View content

Poster

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2025

Interdisciplinary Variant Re-Classification: FGFR3 as an example of genotypic investigation in suspected skeletal dysplasia population

A. Volz, M. Bailey, N. Ziv, C. R. Bauer

View content

Poster

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2025

Beyond Boundaries: The Continuous Spectrum in FGFR3-Related Conditions

M. Bailey, D. Chu, A. Dauber

View content

Poster

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2025

How helpful are sleep studies in determining surgical need in infants with achondroplasia?

J. M. Legare, D. G. Ingram, R. M. Pauli, J. T. Hecht, L. Dujmusic, P. Modaff, M. E. Little, C. J. Smid, D. Rodriguez-Buritica, M. E. Serna, M. B. Bober, J. W. Campbell, J. E. Hoover-Fong, S. S. Hashmi

View content

Poster

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2025

Safety profile, effectiveness, and adherence of vosoritide in young children with achondroplasia in Japan

T. Michigami, T. Kitaoka, J. M. Pimenta, V. Horvathova, H. Tokuoka, S. Matsumoto

View content

Presentation

View content

• Congresses
• Achondroplasia
• European Society for Paediatric Endocrinology (EPSE)
• 2024

Expansion of the CrescNet Registry Achondroplasia Module: Real-World Demographic Data and Outcomes after up to 2 Years of Vosoritide Treatment

Presenting Author: Klaus Mohnike

View content

Poster

View content

• Congresses
• Achondroplasia
• European Society for Paediatric Endocrinology (EPSE)
• 2024

Comparison of the diagnostic yield of whole exome sequencing (WES) and targeted panel sequencing for children with idiopathic short stature (ISS)

L. Cellin, N. Andrade, A. Malaquias, R. Rezende, P. Atique, C. Luz, G. Vasques, V. Souza, E. Quedas, S. Antonini, P. Collet-Solberg, R. Scalco, C. Longui, A. Jorge

View content

Poster

View content

• Congresses
• Hypochondroplasia
• European Society for Paediatric Endocrinology (EPSE)
• 2024

Design and objectives of Study 111-902: a multicenter, prospective, and retrospective observational study of children with hypochondroplasia

A. Dauber, M. Irving, R. Savarirayan, S. Ghani, I. Sabir, R. Bassi

View content

Presentation

View content

• Congresses
• Hypochondroplasia
• European Society for Paediatric Endocrinology (EPSE)
• 2024

FC5: Growth and Syndromes Phase 2 Trial of Vosoritide Use in Patients with Hypochondroplasia: Pharmacokinetic/ Pharmacodynamic Analysis from 12 Month Data

Presenting Author: Andrew Dauber

A. Zhang, Y. Qi, K. Boucher, R. Kanakatti Shankar, N. Merchant, N. Shafaei, R. Seaforth, N. Dham

View content

Poster

View content

• Congresses
• Achondroplasia
• European Society for Paediatric Endocrinology (EPSE)
• 2024

Real-world effectiveness of vosoritide in children with achondroplasia: Results from 18 months follow-up in France

V. Cormier-Daire, T. Edouard, B. Isidor, J. M. Pimenta, S. Mukherjee, V. Marcos, A. Dee, M. Rossi, E. Schaefer, S. Sigaudy, G. Baujat

View content

Poster

View content

• Congresses
• Achondroplasia
• The Professional Society for Health Economics & Outcomes Research Europe (ISPOR-EU)
• 2024

Measuring the caregiver burden in children, adolescents and young adults with Achondroplasia: Results from a prospective, cross-sectional, multi-country study

C. Due, J. Quinn, T. Butt

View content

Poster

View content

• Congresses
• Achondroplasia
• European Society for Paediatric Endocrinology (EPSE)
• 2024

Patient-Centred Data Collection Provides Comprehensive Insights into Healthcare Resource Use in Achondroplasia: Data From the Pilot Phase of the VIrtual STudy in Achondroplasia (VISTA)

J. M. Pimenta, S. Abner, J. Chen, D. Chu, S. Dosenovic, V. Hovathova, F. Fettes

View content

Presentation

View content

• Congresses
• Achondroplasia
• Japanese Society for Pediatric Endocrinology (JSPE)
• 2024

Persistent Growth-Promoting Effects of Vosoritide in Children with Achondroplasia is Accompanied by Improvement in Physical Aspects of their of Quality of Life

Presenting Author: Takuo Kubota

L. Tofts, M. Irving, W. R. Wilcox, C. A. Bacino, J. E. Hoover-Fong, P. Harmatz, F. Rutsch, R. S. Carroll, L. E. Polgreen, K. Mohnike, J. Charrow, C. Prada, D. Hoernschemeyer, K. Ozono, Y. Alanay, P. Arundel, Y. Kotani, N. Yasui, K. K. White, S. Brandstetter, H. M. Saal, A. Leiva-Gea, H. Mochizuki, A. Tajima, D. Basel, R. Rowell, A. Huntsman-Labed, J. Day, R. Savarirayan

View content

Presentation

View content

• Congresses
• Achondroplasia
• Japanese Society for Pediatric Endocrinology (JSPE)
• 2024

Persistence of Growth Promoting Effects in Children with Achondroplasia Up to 7 Years: Update from a Phase 2 Extension Study with Vosoritide

Presenting Author: Hirofumi Tokuoka J. Hoover-Fong, M. Irving, C. A. Bacino, J. Charrow, C. Prada, V. Cormier-Daire, L. E. Polgreen, P. Harmatz, S. Ghani, A. Low, J. Day, J. Phillips, R. Savarirayan

View content

Presentation

View content

• Congresses
• Hypochondroplasia
• International Skeletal Dysplasia Society (ISDS)
• 2024

Vosoritide Improves Growth in RASopathies, ACAN and NPR2 Deficiency: Preliminary Data from a Phase 2 Trial

Presenting Author: Andrew Dauber

A. Zhang, K. Boucher, R. K. Shankar, N. Merchant, T. McCarthy, N. Shafaei, R. Seaforth, M. G. Castro, N. Dham

View content

Presentation

View content

• Congresses
• Hypochondroplasia
• International Skeletal Dysplasia Society (ISDS)
• 2024

Vosoritide Increases Growth Velocity in Hypochondroplasia: Phase 2 Trial Results

Presenting Author: Andrew Dauber

A. Zhang, R. K. Shankar, K. Boucher, T. McCarthy, N. Shafaei, R. Seaforth, M. G. Castro, N. Dham, N. Merchant

 

View content

Poster

View content

• Congresses
• Achondroplasia
• International Skeletal Dysplasia Society (ISDS)
• 2024

Design and objectives of the Acorn study: a non-interventional study evaluating long-term safety in achondroplasia children treated with vosoritide

S. Mukherjee, J. M. Pimenta, F. Fettes, S. Ingole, V. Horvathova, E. Lausch

View content

Poster

View content

• Congresses
• Achondroplasia
• International Skeletal Dysplasia Society (ISDS)
• 2024

The Achondroplasia Roadmap

S. Noval, J. Sim-Sim, N. Meunier, S. Birch, M. Skierkowska, K. Rio, A. V. Fraschina, R. Brumberg, F. Cornejo, M. Sessa

View content

Poster

View content

• Congresses
• Achondroplasia
• International Skeletal Dysplasia Society (ISDS)
• 2024

Does Vosoritide Treatment Affect Bone Strength in Children with Achondroplasia?

C. Derocher, E. Carter, K. Jepsen, C. Raggio

View content

Poster

View content

• Congresses
• Achondroplasia
• International Skeletal Dysplasia Society (ISDS)
• 2024

Caregiver perspectives on vosoritide treatment: meaningful HRQoL improvements in children with achondroplasia

R. Savarirayan, P. Arundel, J. A. Phillips, L. E. Polgreen, D. Hoernschemeyer, M. Cho, E. Dashiell-Aje, K. Delaney, K. Ozono

View content

Poster

View content

• Congresses
• Achondroplasia
• Congresso Brasileiro de Genética Médica (CBGM)
• 2024

Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 4 years: Update from Phase 3 extension study

R. Savarirayan, L. Tofts, M. Irving, W. R. Wilcox, C. A. Bacino, J. E. Hoover-Fong, P. Harmatz, F. Rutsch, R. S. Carroll, L. E. Polgreen, K. Mohnike, J. Charrow, C. Prada, D. Hoernschemeyer, K. Ozono, T. Kubota, Y. Alanay, P. Arundel, Y. Kotani, N. Yasui, K. K. White, S. Brandstetter, H. M. Saal, A. Leiva-Gea, H. Mochizuki, A. Tajima, D. Basel, E. Fisheleva, A. Low, S. Lawrinson, J. Day, T. Bolzan

View content

Presentation

View content

• Congresses
• Achondroplasia
• Congresso Brasileiro de Genética Médica (CBGM)
• 2024

Persistent growth-promoting effects of vosoritide in children with achondroplasia is accompanied by improvement in physical aspects of quality of life

Presenting Author: Melita Irving

R. Savarirayan, T. Tofts, W. R. Wilcox, C. A. Bacino, J. E. Hoover-Fong, P. Harmatz, L. E. Polgreen, K. Mohnike, E. Fisheleva, R. Rowell, A. Huntsman-Labed, C. L. Patti, J. Day

View content

Poster

View content

• Congresses
• Achondroplasia
• Congresso Brasileiro de Genética Médica (CBGM)
• 2024

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

R. Savarirayan, L. Tofts, M. Irving, W. R. Wilcox, P. R. Harmatz, F. Rutsch, R. Carroll, L. E. Polgreen, K. Mohnike, J. Charrow, C. Prada, D. Hoernschemeyer, K. Ozono, T. Kubota, Y. Alanay, P. Arundel, N. Yasui, K. K. White, S. Brandstetter, H. M. Saal, H. Mochizuki, A. Tajima, D. Basel, S. Mukherjee, M. Harris, S. Ingole, A. Low, J. E. Hoover-Fong, A. Spilack

View content

Presentation

View content

• Congresses
• Achondroplasia
• International Conference on Children's Bone Health (ICCBH)
• 2024

Persistent growth-promoting effects of vosoritide in children with achondroplasia is accompanied by improvement in physical aspects of quality of life

Presenting Author: Melita Irving

R. Savarirayan, L. Tofts, W. R. Wilcox, C. A. Bacino, J. E. Hoover-Fong, P. Harmatz, F. Rutsch, R. S. Carroll, L. E. Polgreen, K. Mohnike, J. Charrow, C. Prada, D. Hoernschemeyer, K. Ozono, T. Kubota, Y. Alanay, P. Arundel, Y. Kotani, N.Yasui, K. K. White, S. Brandstetter, H. M. Saal, A. Leiva-Gea, H. Mochizuki, A. Tajima, D. Basel, E. Fisheleva, R. Rowell, A. Huntsman-Labed, J. Day

View content

Poster

View content

• Congresses
• Hypochondroplasia
• International Conference on Children's Bone Health (ICCBH)
• 2024

Comorbidity and mortality burden among patients with hypochondroplasia in England between 1998-2019

S. R. Reddy, J. M. Pimenta, H. Shepherd, J. Sutton, M. Cheung, M. Irving, S. Mukherjee, R. Williams

View content

Poster

View content

• Congresses
• Achondroplasia
• International Conference on Children's Bone Health (ICCBH)
• 2024

Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 4 years: Update from Phase 3 extension study

R. Savarirayan, L. Tofts, M. Irving, W. R. Wilcox, C. A. Bacino, J. E. Hoover-Fong, P. Harmatz, F. Rutsch, R. S. Carroll, L. E. Polgreen, K. Mohnike, J. Charrow, C. Prada, D. Hoernschemeyer, K. Ozono, T. Kubota, Y. Alanay, P. Arundel, Y. Kotani, N. Yasui, K. K. White, S. Brandstetter, H. M. Saal, A. Leiva-Gea, H. Mochizuki, A. Tajima, D. Basel, E. Fisheleva, A. Low, S. Lawrinson, J. Day

View content

Poster

View content

• Congresses
• Achondroplasia
• International Conference on Children's Bone Health (ICCBH)
• 2024

Design and objectives of the Acorn study: a non-interventional study evaluating long-term safety in achondroplasia children treated with vosoritide

J. M. Pimenta, F. Fettes, S. Mukherjee, S. Ingole, V. Horvathova, E. Lausch

View content

Poster

View content

• Congresses
• Achondroplasia
• International Conference on Children's Bone Health (ICCBH)
• 2024

Persistence of growth promoting effects in infants and toddlers with achondroplasia: Results from a phase II extension study with vosoritide

R. Savarirayan, W. R. Wilcox, P. Harmatz, J. Phillips III, M. lrving, L. E. Polgreen, L. Tofts, K. Ozono, P. Arundel, C. A. Bacino, D. Basel, R. Carroll, J. Charrow, H. Mochizuki, Y. Kotani, H. M. Saal, L. Han, A. Low, E. Fisheleva, J. Day

View content

Poster

View content

• Congresses
• Achondroplasia
• European Human Genetics Conference (ESHG)
• 2024

Real-world safety and effectiveness of vosoritide: Results from an early access program in France

V. Cormier-Daire, T. Edouard, B. Isidor, S. Cohen, S. Mukherjee, J. Pimenta, L. Lhaneche, M. Rossi, E. Schaefer, E. Goodman, S. Sigaudy, G. Baujat

View content

Poster

View content

• Congresses
• Achondroplasia
• The Professional Society for Health Economics & Outcomes Research (ISPOR)
• 2024

Examining the disability paradox and health state utility valuation in achondroplasia

G. Morgan, E. Back, C. Due, T. Butt

View content

Presentation

View content

• Congresses
• Achondroplasia
• Pediatric Endocrine Society (PES)
• 2024

A Prospective Trial of Vosoritide in Selected Genetic Causes of Short Stature

Presenting Author: Despoina Galetaki, MD

View content

Poster

View content

• Congresses
• Achondroplasia
• Pediatric Endocrine Society (PES)
• 2024

Growth-promoting effects of vosoritide in children with achondroplasia aged ≥10 years at treatment initiation: results from a phase 3 extension study

R. Savarirayan, L. Tofts, M. Irving, W. R. Wilcox, P. R. Harmatz, F. Rutsch, R. Carroll, L. E. Polgreen, K. Mohnike, J. Charrow, C. Prada, D. Hoernschemeyer, K. Ozono, T. Kubota, Y. Alanay, P. Arundel, N. Yasui, K. K. White, S. Brandstetter, H. M. Saal, H. Mochizuki, A. Tajima, D. Basel, S. Mukherjee, M. Harris, S. Ingole, A. Low, J. E. Hoover-Fong

View content

Poster

View content

• Congresses
• Achondroplasia
• Pediatric Endocrine Society (PES)
• 2024

Persistence of growth promoting effects in infants and toddlers with achondroplasia: Results from a phase II extension study with vosoritide

R. Savarirayan, W. R. Wilcox, P. Harmatz, J. Phillips III, M. Irving, L. E. Polgreen, L. Tofts, K. Ozono, P. Arundel, C. A. Bacino, D. Basel, R. Carroll, J. Charrow, H. Mochizuki, Y. Kotani, H. M. Saal, L. Han, A. Low, E. Fisheleva, J. Day

View content

Poster

View content

• Congresses
• Achondroplasia
• Pediatric Endocrine Society (PES)
• 2024

Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 4 years: update from Phase 3 extension study

R. Savarirayan, L. Tofts, M. Irving, W. R. Wilcox, C. A. Bacino, J. E. Hoover-Fong, P. Harmatz, F. Rutsch, R. S. Carroll, L. E. Polgreen, K. Mohnike, J. Charrow, C. Prada, D. Hoernschemeyer, K. Ozono, T. Kubota, Y. Alanay, P. Arundel, Y. Kotani, N. Yasui, K. K. White, S. Brandstetter, H. M. Saal, A. Leiva-Gea, H. Mochizuki, A. Tajima, D. Basel, E. Fisheleva, A. Low, S. Lawrinson, J. Day

View content

Poster

View content

• Congresses
• Achondroplasia
• Pediatric Endocrine Society (PES)
• 2024

Persistent growth-promoting effects of vosoritide in children with achondroplasia is accompanied by improvement in physical aspects of quality of life

R. Savarirayan, L. Tofts, M. Irving, W. R. Wilcox, C. A. Bacino, J. E. Hoover-Fong, P. Harmatz, F. Rutsch, R. S. Carroll, L. E. Polgreen, K. Mohnike, J. Charrow, C. Prada, D. Hoernschemeyer, K. Ozono, T. Kubota, Y. Alanay, P. Arundel, Y. Kotani, N. Yasui, K. K. White, S. Brandstetter, H. M. Saal, A. Leiva-Gea, H. Mochizuki, A. Tajima, D. Basel, E. Fisheleva, R. Rowell, A. Huntsman-Labed, J. Day

View content

Poster

View content

• Congresses
• Achondroplasia
• International Pediatric Sleep Association (IPSA)
• 2024

Impact of vosoritide on polysomnography parameters among children aged 3-59 months

P. Gringras, M. Cheung, P. Harmatz, L. E. Polgreen, L. Tofts, T. Kubota, P. Arundel, C. A. Bacino, D. Basel, R. S. Carroll, C. Prada, A. Tajima, A. Low, E. Fisheleva, M. Irving, K. Ozono, W. R. Wilcox, R. Savarirayan

View content

Presentation

View content

• Congresses
• Hypochondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2024

Vosoritide Increases Growth Velocity in Hypochondroplasia: Phase 2 Trial Results

Presenting Author: Andrew Dauber, MD MMSc

View content

Poster

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2024

Persistence of growth-promoting effects in children with achondroplasia up to 7 years: update from a phase 2 extension study with vosoritide

J. E. Hoover-Fong, M. Irving, C .A. Bacino, J. Charrow, C. Prada, V. Cormier-Daire, L. E. Polgreen, P. Harmatz, S. Ghani, E. Fisheleva, A. Low, J. Day, J. Phillips III, R. Savarirayan

View content

Poster

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2024

Persistence of growth promoting effects in infants and toddlers with achondroplasia: Results from a Phase II extension study with vosoritide

R. Savarirayan, W. R. Wilcox, P. Harmatz, J. Phillips III, M. Irving, L. E. Polgreen, L. Tofts, K. Ozono, P. Arundel, C. A. Bacino, D. Basel, R. Carroll, J. Charrow, H. Mochizuki, Y. Kotani, H. M. Saal, L. Han, A. Low, E. Fisheleva, J. Day

View content

Poster

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2024

Persistent growth-promoting effects of vosoritide in children with achondroplasia is accompanied by improvement in physical aspects of quality of life

R. Savarirayan, L. Tofts, M. Irving, W. R. Wilcox, C. A. Bacino, J. E. Hoover-Fong, P. Harmatz, F. Rutsch, R. S. Carroll, L. E. Polgreen, K. Mohnike, J. Charrow, C. Prada, D. Hoernschemeyer, K. Ozono, T. Kubota, Y. Alanay, P. Arundel, Y. Kotani, N. Yasui, K. K. White, S. Brandstetter, H. M. Saal, A. Leiva-Gea, H. Mochizuki, A. Tajima, D. Basel, E. Fisheleva, R. Rowell, A. Huntsman-Labed, J. Day

View content

Presentation

View content

• Congresses
• Achondroplasia
• European Society for Paediatric Endocrinology (EPSE)
• 2023

Persistence of Growth Promoting Effects in Infants and Toddlers with Achondroplasia: Results in Children Aged Over 2 Years Old from a Phase II Extension Study with Vosoritide

Presenting Author: Melita Irving

View content

Poster

View content

• Congresses
• Achondroplasia
• European Society for Paediatric Endocrinology (EPSE)
• 2023

Objectives and design of the Acorn Study: A non-interventional study evaluating long-term safety in achondroplasia patients treated with vosoritide

J. M. Pimenta, S. Cohen, S. Mukherjee, F. Fettes, K. Jayaram, E. Lausch

View content

Poster

View content

• Congresses
• Achondroplasia
• European Society for Paediatric Endocrinology (EPSE)
• 2023

Real-world safety and effectiveness of vosoritide: Results from an early access program in France

V. Cormier-Daire, T. Edouard, B. Isidor, S. Cohen, S. Mukherjee, J. Pimenta, L. Lhaneche, M. Rossi, E. Schaefer, E. Goodman, S. Sigaudy, G. Baujat

View content

Poster

View content

• Congresses
• Achondroplasia
• Pediatric Endocrine Society (PES)
• 2023

Persistence of growth promoting effects in children with achondroplasia over seven years: Update from phase II extension study with vosoritide

L. E. Polgreen, J. Hoover-Fong, M. Irving, C. A. Bacino, J. Charrow, V. Cormier-Daire, P. Harmatz, A. Huntsman-Labed, E. Fisheleva, I. Sabir, J. Day, J. Phillips, R. Savarirayan

View content

Poster

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2023

Persistence of Growth Promoting Effects in Children with Achondroplasia Over Seven Years: Update from Phase II Extension Study with Vosoritide

J. Hoover-Fong, M. Irving, C. A. Bacino, J. Charrow, V. Cormier-Daire, L. E. Polgreen, P. Harmatz, A. Huntsman-Labed, E. Fisheleva, I. Sabir, J. Day, J. Phillips, R. Savarirayan

View content

Poster

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2023

Objectives and design of the Acorn Study: A non-interventional study evaluating long-term safety in achondroplasia patients treated with vosoritide

J. M. Pimenta, S. Cohen, S. Mukherjee, F. Fettes, K. Jayaram, E. Lausch

View content

Poster

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2023

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice

O. Semler, V. Cormier-Daire, E. Lausch, M. B. Bober, R. Carroll, S. B. Sousa, D. Deyle, M. Faden, G. Hartmann, A. Huser, J. Legare, K. Mohnike, T. Rohrer, F. Rutsch, P. Smith, A. Travessa, A. Verado, K. White, W. Wilcox, J. Hoover-Fong

View content

Poster

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2023

Quantification of the surgical burden associated with achondroplasia: a comprehensive review of the literature

M. Stender, J. Pimenta, M. Irving, S. Mukherjee

View content

Poster

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2023

Health-related quality of life (HRQoL) in achondroplasia: findings from LISA (Life Impact Study on Achondroplasia), a multinational and observational study in Latin America

J. C. Llerena Jr., V. Fano, P. Rosselli, M. Del Pino, C. Valenzuela, J. Méndez, N. C. Cavalcanti, P. A. Thomazinho, A. Aragão, J. Thomaz, T. Butt, R. Rowell, J. Pimenta, S. Cohen, R. Shediac, T. Magalhães, D. Bertola, C. A. Kim

View content

Poster

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2023

Gene panels for skeletal dysplasia and epilepsy: Maximizing clinical utility through careful design, regular review, and clinician-laboratory collaboration

A. A. Tayoun, S. Aradhya, M. Bailey, L. Bastaki, S. Došenović, F. Ezgü, E. Izzo, C. Lampe, J. J. O’Byrne, G. Seratti, C. Snow, C. Staufner, P. Striano

View content

Poster

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2023

Persistent and stable growth promoting effects of vosoritide in children with achondroplasia for up to 3.5 years: results from an ongoing Phase 3 extension study

J. Hoover-Fong, R. Savarirayan, L Tofts, M. Irving, W. R. Wilcox, C. A. Bacino, R. U. Font, P. Harmatz, F. Rutsch, M. B. Bober, L. E. Polgreen, I. Ginebreda, K. Mohnike, J. Charrow, D. Hoernschemeyer, K. Ozono, Y. Alanay, P. Arundel, S. Kagami, N. Yasui, K. White, H. M. Saal, A. Leiva-Gea, F. Luna-González, H. Mochizuki, D. Basel, D. M. Porco, K. Jayaram, E. Fisheleva, S. Lawrinson, J. Day

View content

Poster

View content

• Congresses
• Achondroplasia
• European Society for Paediatric Endocrinology (EPSE)
• 2022

Real-world experience with vosoritide for achondroplasia: Interim findings from an early access programme in France

V. Cormier-Daire, S. Cohen, T. Edouard, B. Isidor, S. Mukherjee, J. Pimenta, M. Rossi, E. Schaefer, S. Sigaudy, G. Baujat

View content

Poster

View content

• Congresses
• Achondroplasia
• International Skeletal Dysplasia Society (ISDS)
• 2022

Persistent growth in children with achondroplasia treated with vosoritide for two years: further evidence supporting the first precision therapy for this condition

R. Savarirayan, L. Tofts, M. Irving, W. Wilcox, C. A. Bacino, J. Hoover-Fong, R. Ullot Font, P. Harmatz, F. Rutsch, M. B. Bober, L. E. Polgreen, I. Ginebreda, K. Mohnike, J. Charrow, D. Hoernschemeyer, K. Ozono, Y. Alanay, P. Arundel, S. Kagami, N. Yasui, K. White, H. M. Saal, A. Leiva-Gea, F. Luna-González, H. Mochizuki, D. Basel, D. M. Porco, K. Jayaram, E. Fisheleva, L. Han, J. Day

View content

Presentation

View content

• Congresses
• Achondroplasia
• International Skeletal Dysplasia Society (ISDS)
• 2022

Health related quality of life (HRQoL) in achondroplasia: findings from LISA (Life Impact Study on Achondroplasia), a multinational and observational study in Latin America

Presenting Author: Dr. Juan Llerena Jr.

View content

Poster

View content

• Congresses
• Achondroplasia
• Endocrine Society (ENDO)
• 2022

A Randomized Controlled Trial of Vosoritide in Infants and Toddlers with Achondroplasia

R. Savarirayan, W. W. Wilcox, Paul Harmatz, J. Phillips III, L. Polgreen, L. Tofts, K. Ozono, P. Arundel, M. Irving, C. Bacino, D. Basel, M. Bober, J. Charrow, H. Mochizuki, Y. Kotani, H. Saal, G. Jeha, L. Han, E. Fisheleva, A. Huntsman-Labed, J. Day

View content

Poster

View content

• Congresses
• Achondroplasia
• Pediatric Endocrine Society (PES)
• 2022

Vosoritide for Children with Achondroplasia: Growth Velocity and Pubertal Milestones

L. E. Polgreen, M. Irving, J. Hoover-Fong, C. A. Bacino, J. Charrow, V. Cormier-Daire, P. Harmatz, P. Dickson, M. B. Bober, K. Mohnike, W. R. Wilcox, A. Huntsman Labed, S. Lawrinson, E. Fisheleva, J. Day, G. Jeha, J. Phillips, R. Savarirayan

View content

Presentation

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2022

Vosoritide for Children with Achondroplasia: Growth Velocity and Pubertal Milestones

Presenting Author: Melita Irving

View content

Poster

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2022

Expert opinions regarding impact of achondroplasia on health-related quality of life and long-term effects of vosoritide: a modified delphi study

R. Savarirayan, W. Baratela, T. Butt, V. Cormier-Daire, M. Irving, B. S. Miller, K. Mohnike, K. Ozono, R. G. Rosenfeld, A. Selicorni, D. Thompson, K. K. White, M. Wright, S. O. Fredwall

View content

Poster

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2022

Higher rates of non-skeletal complications in achondroplasia compared to the general population: a UK matched cohort study using CPRD-GOLD database

M. Irving, J. M. Pimenta, M. Cheung, L. MazzeoL, S. Landis, S. Mukherjee

View content

Poster

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2022

Associations between height and health-related quality of life (HRQoL) and functional independence in children with achondroplasia

M. Irving, R. Savarirayan, P.Arundel, L. Polgreen, K. Mohnike, K. Ozono, M. Saunders, E. Fisheleva, A. Huntsman-Labed, J. Day

View content

Poster

View content

• Congresses
• Achondroplasia
• American College of Medical Genetics & Genomics (ACMG)
• 2022

Clinical utility of a sponsored, no-charge skeletal dysplasia gene panel testing program: Results from >2600 tests

G. MacCarrick, W. Mackenzie, C. Raggio, K. White, D. Krakow, E. Izzo, V. Pansare, A. Hunt, R. Shediac, D. Chu, T. Yar Pang, S. Poll , H. McLaughlin, G. Seratti

View content

Poster

View content

• Congresses
• Achondroplasia
• European Society for Paediatric Endocrinology (EPSE)
• 2021

Higher rates of non-skeletal complications in achondroplasia compared to the general population: a UK matched cohort study using the CPRD database

J. M. Pimenta, M. Cheung, M. Irving, L. Mazzeo, S. Landis, S. Mukherjee

View content

Poster

View content

• Congresses
• Achondroplasia
• European Society for Paediatric Endocrinology (EPSE)
• 2021

Vosoritide Clinical Study Data Demonstrates CXM is a Superior Biomarker of Endochondral Bone Growth

K. Larimore, T. Nguyen, Y. Qi, G. Jeha, S. Zoog

View content

Poster

View content

• Congresses
• Achondroplasia
• European Society for Paediatric Endocrinology (EPSE)
• 2021

Associations between height and health-related quality of life (HRQoL) and functional independence in children with achondroplasia

M. Irving, R. Savarirayan, P. Arundel, L. E. Polgreen, K. Mohnike, K. Ozono, M. Saunders, E. Fisheleva, A. Huntsman-Labed, J. Day

View content