×
About 815 results

ALLMedicine™ Achondroplasia Center

Research & Reviews  299 results

Disease-specific complications and multidisciplinary interventions in achondroplasia.
https://doi.org/10.1007/s00774-021-01298-z 10.1038/s41436-021-01287-7
Journal of Bone and Mineral Metabolism; Kitoh H, Matsushita M et. al.

Jan 15th, 2022 - Achondroplasia (ACH) is the most common skeletal dysplasia and characterized by a disproportionate short stature, macrocephaly with frontal bossing, exaggerated lumbar lordosis, and trident hands. It is induced by activated mutations in the fibrob...

Impact of achondroplasia on Latin American patients: a systematic review and meta-analy...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8728937
Orphanet Journal of Rare Diseases; Fano V, Kim CA et. al.

Jan 6th, 2022 - Achondroplasia (ACH), the most common form of disproportionate short stature, is caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene. Recent advances in drug therapy for ACH have highlighted the importance of elucidating...

Achondroplasia - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/achondroplasia/

Jan 6th, 2022 - Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion. In infancy, hypot...

Growth in achondroplasia including stature, weight, weight-for-height and head circumfe...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8697459
Orphanet Journal of Rare Diseases; Hoover-Fong JE, Schulze KJ et. al.

Dec 25th, 2021 - Achondroplasia is the most common genetic skeletal disorder causing disproportionate short stature/dwarfism. Common additional features include spinal stenosis, midface retrusion, macrocephaly and a generalized spondylometaphyseal dysplasia which ...

Hydrocephalus in achondroplasia: efficacy of endoscopic third ventriculostomy.
https://doi.org/10.3171/2021.9.PEDS21242
Journal of Neurosurgery. Pediatrics; Kim J, Patel VJ et. al.

Dec 18th, 2021 - Ventriculoperitoneal shunts (VPSs) for hydrocephalus in patients with achondroplasia are known to have a higher failure rate than in other hydrocephalus populations. However, the etiology of hydrocephalus in this group is considered "communicating...

see more →

Drugs  1 results see all →

Clinicaltrials.gov  8 results

Study of Infigratinib in Children With Achondroplasia
https://clinicaltrials.gov/ct2/show/NCT04265651

Dec 17th, 2021 - This is a Phase 2, multicenter, open-label, dose-escalation and dose-expansion study to evaluate the safety, tolerability, and efficacy of infigratinib, a fibroblast growth factor receptor (FGFR) 1-3-selective tyrosine kinase inhibitor, in childre...

The Norwegian Adult Achondroplasia Study
https://clinicaltrials.gov/ct2/show/NCT03780153

Dec 15th, 2021 - The present study aims to investigate the degree and extent of spinal stenosis, chronic pain, sleep apnoea, impaired hearing, cardiovascular risk factors and body composition in Norwegian adults with achondroplasia. The study will also explore the...

Extension Study of Infigratinib in Children With Achondroplasia (ACH)
https://clinicaltrials.gov/ct2/show/NCT05145010

Dec 6th, 2021 - This is a Phase 2, multicenter, open-label, extension (OLE) study to evaluate the long-term safety, tolerability, and efficacy of infigratinib, an FGFR 1-3-selective tyrosine kinase inhibitor, in subjects with ACH who previously completed a QED-sp...

Prospective Clinical Assessment Study in Children With Achondroplasia (ACH)
https://clinicaltrials.gov/ct2/show/NCT04035811

Sep 29th, 2021 - This is a long-term, multi-center, observational study in children 2.5 to 10 years with achondroplasia (ACH). The objective is to evaluate growth, ACH-related medical complications and treatments of study participants. No study medication will be ...

A Clinical Trial to Evaluate Safety of Vosoritide in At-risk Infants With Achondroplasia
https://clinicaltrials.gov/ct2/show/NCT04554940

Jul 26th, 2021 - Study 111-209 is a Phase 2 randomized, open-label clinical trial of BMN 111 in infants and young children with a diagnosis of Achondroplasia at a heightened risk of requiring cervicomedullary decompression surgery

see more →

News  14 results

FDA Approves Vosoritide for Children With Achondroplasia
https://www.medscape.com/viewarticle/963412

Nov 22nd, 2021 - The US Food and Drug Administration (FDA) has approved vosoritide (Voxzogo) daily injection for the treatment of children with achondroplasia, the most common form of human dwarfism. The indication is for children aged 5 years and older who have a...

Europe Approves Biomarin Drug for Type of Dwarfism in Region's First
https://www.medscape.com/viewarticle/957381

Aug 30th, 2021 - (Reuters) - U.S.-based Biomarin Pharmaceutical Inc said on Friday the European Commission cleared its treatment for one of the most common forms of dwarfism, the first such approval in the region for a therapy to treat achondroplasia. The approval...

Success for Vosoritide Spurs Testing in More Growth Disorders
https://www.medscape.com/viewarticle/947834

Mar 22nd, 2021 - On the basis of the quality of sustained bone growth achieved with vosoritide in dwarfism, studies are underway or being considered for more diseases that impair bone growth, according to discussion that followed the presentation of a phase 3 tria...

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...

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...

see more →

Patient Education  4 results see all →