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About 730 results

ALLMedicine™ Achondroplasia Center

Research & Reviews  272 results

Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successf...
https://doi.org/10.1159/000517652
Pediatric Neurosurgery; Giordano F, Lenge M et. al.

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...

Total knee arthroplasty in a young patient with achondroplasia.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268906
BMJ Case Reports; Zmerly H, Russo M et. al.

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...

An intronic variant disrupts mRNA splicing and causes FGFR3-related skeletal dysplasia.
https://doi.org/10.1515/jpem-2020-0679
Journal of Pediatric Endocrinology & Metabolism : JPEM; Xu T, Shi L et. al.

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...

Real-time ultrasound-guided epidural anesthesia for cesarean section in a parturient wi...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8216363
The Journal of International Medical Research; Cao X, Yang W et. al.

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...

Genetic characterization of short stature patients with overlapping features of growth ...
https://doi.org/10.1210/clinem/dgab437
The Journal of Clinical Endocrinology and Metabolism; Andrews A, Maharaj A et. al.

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...

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Clinicaltrials.gov  6 results

Achondroplasia Natural History Multicenter Clinical Study
https://clinicaltrials.gov/ct2/show/NCT02597881

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...

A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia
https://clinicaltrials.gov/ct2/show/NCT02055157

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.

Treatment With HMG-COA Reductase Inhibitor of Growth and Bone Abnormalities in Children With Noonan Syndrome
https://clinicaltrials.gov/ct2/show/NCT02713945

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...

A Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia
https://clinicaltrials.gov/ct2/show/NCT03583697

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.

Lifetime Impact of Achondroplasia Study in Europe-LIAISE
https://clinicaltrials.gov/ct2/show/NCT03449368

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...

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News  10 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...

Vosoritide Boosts Growth in Kids With Achondroplasia
https://www.medpagetoday.com/pediatrics/growthdisorders/80559

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 ...

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...

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Patient Education  4 results see all →