"Achondroplasia"

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study'a multi-center retrospective cohort study of achondroplasia in the US Skip to main contentAn official website of the United States government Here's how you know Log inAccess keysNCBI HomepageMyNCBI HomepageMain ContentMain NavigationPreview improvements -021-02141-4PMCID: PMC8697459PMID: 34949201Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort study of achondroplasia in the USJulie E. Hoover-Fong,1 Kerry J. Schulze,1,2 Adekemi Y. Alade,1,2 Michael B. Bober,3 Ethan Gough,1,2 S. Shahrukh Hashmi,4 Jacqueline T. Hecht,4,5

Vosoritide (achondroplasia, ? 2 years) ' Addendum to Project A23-92 1 Translation of the addendum Vosoritid (Achondroplasie) – Addendum zum Projekt A23-92 (Dossierbewertung). Please note: This translation is provided as a service by IQWiG to English-language readers. However, solely the German original text is absolutely authoritative and legally binding. Vosoritide (achondroplasia) Addendum to Project A23-92 (dossier assessment)1 ADDENDUM Project: A24-08 Version: 1.0 Status: 26 January 2024 Addendum A24-08 Version 1.0 Vosoritide – Addendum to Project A23-92 26 January 2024 Institute for Quality and Efficiency in Health Care (IQWiG) - i - Publishing details Publisher Institute for Quality and Efficiency in Health Care Topic Vosoritide (achondroplasia) – Addendum to Project A23-92 Commissioning

Vosoritide (achondroplasia, ? 4 months) ' Benefit assessment according to '35a Social Code Book V 1 Translation of Sections I 1 to I 6 of the dossier assessment Vosoritid ( Achondroplasie, ≥ 4 Monate bis < 2 Jahre) – Nutzenbewertung gemäß § 35a SGB V. Please note: This translation is provided as a service by IQWiG to English-language readers. However, solely the German original text is absolutely authoritative and legally binding. Vosoritide (achondroplasia, ≥ 4 months to < 2 years) Benefit assessment according to §35a SGB V1 EXTRACT Project: A23-116 Version: 1.0 Status: 27 Feb 2024 DOI: 10.60584/A23-116_en Extract of dossier assessment A23-116 Version 1.0 Vosoritide ( achondroplasia, ≥ 4 months to < 2 years) 27 Feb 2024 Institute for Quality and Efficiency in Health Care (IQWiG) - i

Vosoritide (achondroplasia, ? 2 years) ' Benefit assessment according to '35a Social Code Book V 1 Translation of Sections I 1 to I 6 of the dossier assessment Vosoritid (Achondroplasie) – Nutzenbewertung gemäß § 35a SGB V. Please note: This translation is provided as a service by IQWiG to English-language readers. However, solely the German original text is absolutely authoritative and legally binding. Vosoritide (achondroplasia) Benefit assessment according to §35a SGB V1 EXTRACT Project: A23-92 Version: 1.0 Status: 29 November 2023 Extract of dossier assessment A23-92 Version 1.0 Vosoritide ( achondroplasia) 29 November 2023 Institute for Quality and Efficiency in Health Care (IQWiG) - i - Publishing details Publisher Institute for Quality and Efficiency in Health Care Topic Vosoritide

International Consensus Guidelines on the Implementation and Monitoring of Vosoritide Therapy in Individuals with Achondroplasia BRIEF REPORTPersistent growth-promoting effects of vosoritide inchildren with achondroplasia are accompanied byimprovements in physical and social aspects ofhealth-related quality of lifeRavi Savarirayan1,*, Melita Irving2, William R. Wilcox3, Carlos A. Bacino4,Julie E by 1.45 (0.71) and 1.92 (0.77), respectively.Conclusion:These data suggest that after 3 years of treatment, vosoritide demonstrates a positiveeffect on physical and social functioning among children with achondroplasia, particularly inchildren with a more pronounced change in heightz-score.©2024 The Authors. Published by Elsevier Inc. on behalf of American College of MedicalGenetics and Genomics

Persistent Growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health related quality of life Nature Reviews Endocrinologynature reviews endocrinology statement Check for updatesInternational consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasiaRavi . Vosoritide is the first pharmacological, precision treatment for achondroplasia; it was approved for use in 2021, creating a need for vosoritide treatment guidelines to support clinicians. An international collaborative of leading experts and patient advocates was formed to develop this Consensus Statement. The group developed the guideline scope and topics during a hybrid meeting in November 2023

Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia Achondroplasia, the most prevalent skeletal dysplasia, stems from a functional mutation in the fibroblast growth factor receptor 3 gene, leading to growth impairment. This condition presents multifaceted medical, functional and psychosocial challenges throughout childhood, adolescence and adulthood . Current management strategies aim to minimise medical complications, optimise functional capabilities and provide comprehensive supportive care. Vosoritide (trade name: VOXZOGO, BioMarin Pharmaceuticals) is the first disease-modifying pharmaceutical treatment approved for the management of patients with achondroplasia and became available in Australia in May 2023. Standardised clinical guidelines

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia Your privacy, your choiceWe use essential cookies to make sure the site can function. We, and our 207 partners, also use optional cookies and similar technologies for advertising, personalisation of content, usage analysis, and social media.By accepting optional . The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton. The clinical and radiographic hallmarks of achondroplasia make accurate diagnosis possible in most patients. However, marked variability exists in the clinical care pathways and protocols

Navepegritide for treating achondroplasia in children and adolescents aged 2 to 15 years old Navepegritide for treating achondroplasia in children and adolescents aged 2 to 15 years old - NIHR Innovation Observatory * Who we are * What we do * Our Networks * Engage * Events * News * Resources Get in touch * * A world leading Horizon Scanning Facility The NIHR Innovation Observatory is a world Mission * Our Values * What we do * Emerging horizon * Transitional horizon * Imminent horizon * Our Networks * Our Stakeholders * Our Work with NICE * Health & Life Sciences Ecosystem * Engage * Industry * Public Involvement * Capacity Building * Events * News * Resources * Contact 31 October 2024 Navepegritide for treating achondroplasia in children and adolescents aged 2 to 15 years oldNavepegritide

Vosoritide for treating achondroplasia in children Vosoritide for treating achondroplasia in children - NIHR Innovation Observatory * Who we are * What we do * Our Networks * Engage * Events * News * Resources Get in touch * * A world leading Horizon Scanning Facility The NIHR Innovation Observatory is a world leading health and care innovation scanning centre, providing data-driven insights * Imminent horizon * Our Networks * Our Stakeholders * Our Work with NICE * Health & Life Sciences Ecosystem * Engage * Industry * Public Involvement * Capacity Building * Events * News * Resources * Contact 23 January 2024 Vosoritide for treating achondroplasia in childrenVosoritide is in clinical development for the treatment of achondroplasia in children aged 0 to 59 months. Achondroplasia is a rare

Vosoritide approved for treatment of linear growth in pediatric patients with achondroplasia: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) ACMG THERAPEUTICS BULLETINVosoritide approved for treatment of linear growth inpediatric patients with achondroplasia:A therapeutics bulletin of the American College ofMedical Genetics and Genomics (ACMG)Sheri institutions.Requests for permissions must be directed to the American College of Medical Genetics and Genomics, as rights holder.BackgroundAchondroplasia is an autosomal dominant genetic diagnosisthat occurs secondary to heterozygous pathogenic variants inFGFR3.1Gain of function variants inFGFR3inhibit chon-drocyte proliferation and differentiation, which negativelyregulates bone growth. Features of achondroplasia

Australian guidelines for the management of children with achondroplasia Achondroplasia is the most common form of skeletal dysplasia. In addition to altered growth, children and young people with achondroplasia may experience medical complications, develop and function differently to others and require psychosocial support. International, European and American consensus guidelines have been developed for the management of achondroplasia. The Australian focused guidelines presented here are designed to complement those existing guidelines. They aim to provide core care recommendations for families and clinicians, consolidate key resources for the management of children with achondroplasia, facilitate communication between specialist, local teams and families and support delivery of high

Vosoritide (Voxzogo) - achondroplasia Official address Domenico Scarlattilaan 6 ● 1083 HS Amsterdam ● The Netherlands An agency of the European Union Address for visits and deliveries Refer to www.ema.europa.eu/how-to-find-us Send us a question Go to www.ema.europa.eu/contact Telephone +31 (0)88 781 6000 © European Medicines Agency, 2021. Reproduction is authorised provided the source is acknowledged. EMA/373903/2021 EMEA/H/C/005475 Voxzogo (vosoritide) An overview of Voxzogo and why it is authorised in the EU What is Voxzogo and what is it used for? Voxzogo is a medicine for treating achondroplasia in patients aged 2 years and older whose bones are still growing. Achondroplasia is an inherited disease caused by a mutation (change) in a gene called fibroblast growth-factor

Vosoritide (Voxzogo) - improve growth in children five years of age and older with achondroplasia and open epiphyses Drug Approval Package: VOXZOGO * Skip to main page content * Skip to search * Skip to topics menu * Skip to common linksHHS U.S. Department of Health and Human Services U.S. Food and Drug Administration * Follow FDA * En EspañolSearch FDASubmit search * Popular Content * Home

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton. The clinical and radiographic hallmarks of achondroplasia make accurate diagnosis possible in most patients. However, marked variability exists in the clinical care pathways and protocols practised by clinicians who manage children and adults with this condition. A group of 55 international

Oral Infigratinib Therapy in Children with Achondroplasia. Achondroplasia is a genetic skeletal condition that results in disproportionately short stature and medical complications throughout life. Infigratinib is an orally bioavailable FGFR1-3 selective tyrosine kinase inhibitor in development for achondroplasia. In this phase 2 dose-finding study, we evaluated the safety and efficacy of oral infigratinib in children with achondroplasia between the ages of 3 and 11 years. A total of 72 children were enrolled in five sequential cohorts to receive daily infigratinib at doses of 0.016 mg per kilogram of body weight (cohort 1), 0.032 mg per kilogram (cohort 2), 0.064 mg per kilogram (cohort 3), 0.128 mg per kilogram (cohort 4), and 0.25 mg per kilogram (cohort 5) for 6 months, followed by 12 months

Approach to the Patient with Achondroplasia - New Considerations for Diagnosis, Management and Treatment. Achondroplasia is the most common disproportionate short-stature skeletal dysplasia. Features associated with achondroplasia are rhizomelia, macrocephaly, midface hypoplasia, and typical cognition. Potential medical complications include foramen magnum stenosis, hydrocephalus, middle ear dysfunction, obstructive and central sleep apnea, spinal stenosis and genu varum. Recently, vosoritide, a CNP analogue, was approved by the FDA with the primary indication of increasing linear growth in all children with achondroplasia and open growth plates. Due to this, pediatric endocrinologists suddenly are encountering infants and children with achondroplasia in their clinic whose families are seeking

Fgfr3 enhancer deletion markedly improves all skeletal features in a mouse model of achondroplasia. Achondroplasia, the most prevalent short-stature disorder, is caused by missense variants overactivating the fibroblast growth factor receptor 3 (FGFR3). As current surgical and pharmaceutical treatments only partially improve some disease features, we sought to explore a genetic approach. We show that an enhancer located 29 kb upstream of mouse Fgfr3 (-29E) is sufficient to confer a transgenic mouse reporter with a domain of expression in cartilage matching that of Fgfr3. Its CRISPR/Cas9-mediated deletion in otherwise WT mice reduced Fgfr3 expression in this domain by half without causing adverse phenotypes. Importantly, its deletion in mice harboring the ortholog of the most common human achondroplasia

Functional Change in a Child With Achondroplasia Following 12 Months Treatment With Vosoritide-A Case Report. Achondroplasia is the most common form of skeletal dysplasia. Over the last 24 months, a new treatment (vosoritide) is now available to promote endochondral growth through a daily injection. While research has identified increased annualized growth velocity in children with achondroplasia receiving vosoritide injections, there is currently little information on functional change and independence in self-care following this treatment. Here, we present a 5-year-old boy with achondroplasia who received vosoritide injections for 12 months. His functional performance was measured using the Functional Independence Measure for Children (WeeFIM). He was found to have a slightly higher level

Anesthetic Management of Parturients With Achondroplasia During Labor and Delivery: A Narrative Review. Achondroplasia accounts for approximately 70% of all forms of dwarfism. Cesarean delivery is often required in parturients with achondroplasia due to cephalopelvic disproportion. There is no consensus on the optimal management for cesarean delivery considering the difficulties in both general and regional anesthesia in patients with achondroplasia. The aim of this study was to explore the literature for prior case reports and series to determine the optimum anesthetic management for cesarean delivery in achondroplastic patients. We conducted a review of the literature using Embase, Medline, Scopus, and Web of Science database searches for case series and case reports on achondroplasia