ALLMedicine™ Achondroplasia Center

Jul 29th, 2021 - Achondroplasia is a genetic disorder characterized by defects in the development of endochondral bone resulting in skeletal abnormalities like stenosis of the foramen magnum and of the spine, shortened limb bones, and macrocephaly. Congenital spin...

Jul 11th, 2021 - Achondroplasia is a genetic skeletal dysplasia, characterised by dwarfism, with upper and lower limb deformities, that can lead to knee osteoarthritis; the surgical treatment is a challenge due to the particular joint anatomy variances. We present...

Jun 24th, 2021 - Achondroplasia and hypochondroplasia are the most common forms of disproportionate short stature, of which the vast majority of cases can be attributed to the hotspot missense mutations in the gene FGFR3. Here we presented cases with a novel crypt...

Jun 19th, 2021 - Achondroplasia is a type of disproportionate dwarfism with short limbs and a normal-sized torso. This condition results in a potential spinal abnormality and a difficult airway may increase the anesthetic risk, not only in neuraxial anesthesia, bu...

Jun 18th, 2021 - Growth hormone insensitivity (GHI) in children is characterized by short stature, functional IGF-I deficiency and normal or elevated serum GH concentrations. The clinical and genetic etiology of GHI is expanding. We undertook genetic characterizat...

Apr 14th, 2020 - The purpose of this protocol is to create an electronic registry to house phenotypic information from patients with all types of bone conditions. The initial focus of this registry will be to include U.S. patients with achondroplasia. Once populat...

Sep 24th, 2018 - This is a Phase 2, open-label, sequential cohort dose-escalation study of BMN 111 in children with achondroplasia. The primary objective is to assess the safety and tolerability of daily BMN 111 administered to children with achondroplasia.

Aug 14th, 2018 - Noonan syndrome (NS) is a relatively frequent autosomal dominant disorder characterised by facial dysmorphic features, heart defects, developmental delay, and short stature. This syndrome is mostly caused by gain-of-function mutations in the PTPN1...

Jul 11th, 2018 - Study 111-206 is a Phase 2 randomized, double-blind, placebo-controlled clinical trial of BMN 111 in infants and young children with a diagnosis of Achondroplasia.

Feb 28th, 2018 - This is a multinational, epidemiological, observational, retrospective, cross-sectional study of individuals with achondroplasia (subjects). This study will be conducted at up to approximately 20 sites in European countries. Subjects will be invit...

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...

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...

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...

Jun 18th, 2019 - Children with achondroplasia, the genetic bone growth disorder that causes disproportionate dwarfism, saw sustained increases in annualized growth velocity with an investigational C-type natriuretic peptide analogue called vosoritide, researchers ...

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...