Andrew Dauber, MD, Chief of Endocrinology at Children’s National Hospital, discusses data presented on the efficacy of vosoritide in genetic skeletal conditions.
Disease Overview
Achondroplasia is a rare skeletal disorder that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size, small fingers, and normal intelligence. Achondroplasia can cause health complications such as interruption of breathing, obesity, recurrent ear infections, an exaggerated inward curve of the lumbar spine. More serious problems include spinal stenosis and hydrocephalus. Some people with achondroplasia may have delayed motor development early on, but cognition is normal. Achondroplasia is caused by genetic changes in the FGFR3 gene.
Hypochondroplasia is a rare skeletal disease characterized by very short stature. Hypochondroplasia is similar to achondroplasia, but the features tend to be milder. People with hypochondroplasia usually have very short stature, large head, accentuated lordosis, short arms and legs, and broad, short hands and feet. Other features include a limited range of motion in the elbows, lordosis, and bowed legs. Uncommon symptoms may include learning difficulties and convulsions. Hypochondroplasia is caused by genetic changes in the FGFR3 gene.
Vosoritide Clinical Trials
Voxzogo (vosoritide) is a C-type natriuretic peptide analog that acts as a positive regulator of the signaling pathway downstream of FGFR3. This promotes endochondral bone growth. Vosoritide is currently approved by the US Food and Drug Administration (FDA) for the treatment of achondroplasia.
The CANOPY clinical program is a group of studies evaluating vosoritide for the treatment of children with various genetic skeletal disorders, including achondroplasia and hypochondroplasia. For a full list of clinical trials, including the CANOPY program, click here.
Data from a few of these trials was recently presented at the 2024 International Skeletal Dysplasia Society (ISDS) meeting. In a trial on achondroplasia it was observed that children treated with vosoritide experienced significant improvements in health-related quality of life and increased bone strength. Additionally, these patients maintained their bone strength.
Positive results were also seen in a trial evaluating the efficacy of the treatment in children with hypochondroplasia. Observed was sustained improvement in mean annualized growth velocity and height standard deviation. Adverse events and safety profiles were consistent with those seen in clinical trials for achondroplasia.
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To learn more about rare skeletal disorders, visit https://checkrare.com/diseases/musculoskeletal-diseases/
Tags: Genetic, musculoskeletal, drug development, treatment
