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About 678 results

ALLMedicine™ Achondroplasia Center

Research & Reviews  261 results

An Fgfr3-activating mutation in immature murine osteoblasts affects the appendicular an...
https://doi.org/10.1242/dmm.048272
Disease Models & Mechanisms; Biosse Duplan M, Dambroise E et. al.

Aug 24th, 2021 - Achondroplasia (ACH), the most common form of dwarfism, is caused by a missense mutation in the gene coding for fibroblast growth factor receptor 3 (FGFR3). The resulting increase in FGFR3 signaling perturbs the proliferation and differentiation o...

Quality of life, physical functioning, and psychosocial function among patients with ac...
https://doi.org/10.1080/09638288.2021.1963853
Disability and Rehabilitation; Constantinides C, Landis SH et. al.

Aug 18th, 2021 - Achondroplasia (ACH) is the most common form of skeletal dysplasia, resulting in disproportionate short stature and medical complications. We review the literature on physical functioning, psychosocial function, and quality of life (QoL) in ACH in...

A qualitative study of the impacts of having an infant or young child with achondroplas...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8344208
Orphanet Journal of Rare Diseases; Pfeiffer KM, Brod M et. al.

Aug 8th, 2021 - Currently, there is limited research on how having a child diagnosed with achondroplasia affects parents' lives. The purpose of the study was to investigate the experiences of parents of infants and young children less than two years of age with a...

Safe and persistent growth-promoting effects of vosoritide in children with achondropla...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8327889
Genetics in Medicine : Official Journal of the American C... Savarirayan R, Tofts L et. al.

Aug 4th, 2021 - Achondroplasia is caused by pathogenic variants in the fibroblast growth factor receptor 3 gene that lead to impaired endochondral ossification. Vosoritide, an analog of C-type natriuretic peptide, stimulates endochondral bone growth and is in dev...

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News  9 results

Vosoritide Ups Height in Achondroplasia in Year-Long Phase 3 Study
https://www.medscape.com/viewarticle/939744

Oct 26th, 2020 - A year of daily subcutaneous vosoritide was associated with a 0.6-inch (1.5-cm) greater increase in height than placebo in children with achondroplasia, the most common form of human dwarfism. There was no difference in the incidence of side effec...

Vosoritide Ups Height in Achondroplasia in Year-Long Phase 3 Study
https://www.staging.medscape.com/viewarticle/939744

Oct 26th, 2020 - A year of daily subcutaneous vosoritide was associated with a 0.6-inch (1.5-cm) greater increase in height than placebo in children with achondroplasia, the most common form of human dwarfism. There was no difference in the incidence of side effec...

Health Supervision Guidance for Achondroplasia Patients Updated
https://www.medscape.com/viewarticle/931243

May 29th, 2020 - (Reuters Health) - New clinical guidance from the American Academy of Pediatrics (AAP) on health supervision across the lifespan of people with achondroplasia focuses on recent advances in technology that can help diagnose and manage patients with...

Novel Agent Shows Promise as First Possible Therapy for Achondroplasia
https://www.medscape.com/viewarticle/914534

Jun 18th, 2019 - The results are preliminary, but a novel investigative agent has shown promise in a small trial in children for the treatment of achondroplasia, the most common form of human dwarfism. A phase 2 proof of concept study found that treatment with vos...

Novel Agent Shows Promise as First Possible Therapy for Achondroplasia
https://www.staging.medscape.com/viewarticle/914534

Jun 18th, 2019 - The results are preliminary, but a novel investigative agent has shown promise in a small trial in children for the treatment of achondroplasia, the most common form of human dwarfism. A phase 2 proof of concept study found that treatment with vos...

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Patient Education  1 results see all →