Results 21 to 30 of about 534 (161)

Consensus statement on the management of Achondroplasia in the Middle East [PDF]

Frontiers in Endocrinology
Achondroplasia is the most common skeletal dysplasia and presents as a lifelong, multi-system condition characterized by disproportionate short stature, rhizomelic limb shortening, macrocephaly with frontal bossing, and a spectrum of neurological ...
Nandu Thalange, Tawfeg Ben Omran, Afaf Alsagheir, Khalid Hussain, Maha Faden, Mona Aglan, Sareea Alremeithi, Abdelhadi Habeb   +7 more
doaj   +2 more sources

Biosynthesis and Characterization of Vosoritide by Escherichia coli

Pharmaceutical Fronts
Vosoritide is a therapeutic peptide that promotes skeletal growth by targeting the NPR-B receptor and was approved in 2021 for the treatment of achondroplasia.
Shuaiyi Huang, Xiaoyue Hu, Tao Luo, Jun Xu, Yu Duan, Jianguang Lu, Jun Feng   +6 more
doaj   +2 more sources

Expert consensus for the management of patients with achondroplasia in treatment with vosoritide

Anales de Pediatría (English Edition)
Introduction: Patients with achondroplasia present, in addition to disproportionate short stature, multiple manifestations that require a comprehensive approach. The present consensus of experts in Spain responds to the need to establish clear guidelines
Ana-Coral Barreda-Bonis, Josep Maria de Bergua Domingo, Enrique Galán-Gómez, Encarna Guillén-Navarro, Isabel Leiva-Gea, Isolina Riaño-Galán   +5 more
doaj   +3 more sources

From FGFR3 Hyperactivation to Disease-Modifying Therapy in Pediatric Achondroplasia: Molecular Mechanisms, Clinical Evidence, and Emerging Treatments [PDF]

Children
Background/Objectives: Achondroplasia is the most common genetic skeletal dysplasia associated with disproportionate short stature and is primarily caused by gain-of-function variants in the fibroblast growth factor receptor 3 (FGFR3) gene.
Rebecca Cristiana Șerban, Andreea Mitut-Veliscu, Alexandra Dumitra, Liana Marica, Cristina Popescu, Andrei Costache, Șerban Teona, Anca-Lelia Riza, Rodica Dirnu, Renata-Maria Varut, Ioana Streață   +10 more
doaj   +2 more sources

Efficacy and safety of Vosoritide in achondroplasia: A systematic review and meta-analysis. [PDF]

Indian J Med Res
Background and objectives Achondroplasia, a rare autosomal dominant disorder caused by FGFR3 mutation, is treated with vosoritide, a C-type natriuretic peptide analogue. This review aimed to assess vosoritide’s efficacy and safety to guide clinical practice and healthcare policy decisions.
Pahuja M, Prakash C, Umrao A, Chatterjee NS.   +3 more
europepmc   +4 more sources

C-Type Natriuretic Peptide Derivatives: Orthopaedic Implications in Achondroplasia [PDF]

Journal of the Pediatric Orthopaedic Society of North America
: The recent development of C-type natriuretic peptide (CNP) analogs to increase growth velocity in achondroplasia is now being used alongside limb lengthening procedures.
Emily Qian, MS, Kevin Chen, MD, Rachel Montoya, MD, MPA, MSc, Sanjeev Sabharwal, MD, MPH   +3 more
doaj   +2 more sources

Vosoritide (Voxzogo) for Achondroplasia: A Review of Clinical and Real-World Evidence. [PDF]

Cureus
Achondroplasia is the most common genetic skeletal dysplasia, caused by activating mutations in the FGFR3 gene that impair endochondral ossification and result in disproportionate short stature. Vosoritide (VOXZOGO®), a C-type natriuretic peptide analog, is the first targeted therapy approved for achondroplasia and acts by antagonizing FGFR3 signaling ...
Jones HL, Nania TI, Moore JM, Reed JD, Lyons AW, Potter P, Ashurst J, Holley H.   +7 more
europepmc   +3 more sources

Effect of vosoritide on spine morphology in children with achondroplasia: 1-year results from a randomized phase 2 study. [PDF]

J Endocr Soc
Achondroplasia is a skeletal dysplasia condition caused by reduced endochondral ossification resulting in disproportionate short stature and skeletal deformities, including thoracolumbar kyphosis (TLK) and spinal stenosis.
Irving M, Savarirayan R, Hoover-Fong JE, Dee A, Mukherjee S, Rivat C, Sabir I, White KK.   +7 more
europepmc   +2 more sources

Effect of vosoritide on genu varum in children with achondroplasia after 1 year in randomized placebo-controlled trials. [PDF]

J Endocr Soc
Achondroplasia is a skeletal dysplasia associated with multisystem complications including genu varum, which causes pain and limits mobility. Vosoritide, a targeted treatment for achondroplasia, improves growth in children and has an established safety ...
White KK, Irving M, Mukherjee S, Rivat C, Sabir I, Dee A, Savarirayan R.   +6 more
europepmc   +2 more sources

Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences [PDF]

Orphanet Journal of Rare Diseases
Background Achondroplasia is the most common form of disproportionate short stature and can lead to serious medical complications, including foramen magnum and spinal stenosis.
Anna Elsa Maria Allegri, Maria Francesca Bedeschi, Maria Beatrice Bocchi, Valentina Camurri, Michaela Veronika Gonfiantini, Chiara Leoni, Milena Mariani, Osvaldo Palmacci, Matteo Porro, Simone Riganti, Caterina Tedesco, Berardo Rinaldi, Emanuela Scarano, Concetta Schiavariello, Angelo Selicorni, Stefano Stagi, Fabio Verdoni, Giuseppe Zampino, Mohamad Maghnie, Roberta Onesimo   +19 more
doaj   +2 more sources