Study may change treatment of childhood growth disorders

A child’s growth is often measured by pediatricians during routine physicals to identify abnormalities of growth and stature. An abnormality in these measurements could mean a child has a growth disorder. There are many different causes of growth disorders. Some can be the result of defects in genes related to the growth plate, which is the tissue near the end of long bones that grows as the child grows. Children with a growth disorder can present many different symptoms including short stature, joint pain, heart problems, bone problems and developmental delays. Scientists still have a lot to learn about what exactly causes these genetic growth disorders and treatments are limited, especially in the pediatric population. Growth hormone is not uniformly helpful and has only been approved for a small number of conditions.

Vosoritide is an investigational drug that directly targets the growth plate to promote growth. It is an analog of the amino acid C-type natriuretic peptide (CNP). It binds its receptor on healthy cartilage cells called chondrocytes and is currently under investigation in clinical trials as a treatment for the bone growth disorder achondroplasia.

“Vosoritide for Selected Genetic Causes of Short Stature” is a Phase 2 study currently open at Children’s National Hospital. This study will target five types of genetic short stature including SHOX deficiency, hypochondroplasia, Rasopathies (which includes Noonan syndrome), heterozygous NPR2 defects and CNP deficiency.

Thirty-five children with short stature will be enrolled and followed for a six-month observation period to obtain baseline growth velocity, safety profile and quality of life assessment. Study participants will then be treated with vosoritide for 12 months and will be assessed for safety and improvement in growth outcomes.

“Many patients who present with short stature likely have genetic defects in genes involved in growth plate physiology. Those patients with selected causes of short stature that interact with the CNP pathway may benefit from treatment with vosoritide, which directly targets the growth plate,” said Andrew Dauber, M.D., MMSc., lead investigator of this clinical study and chief of Endocrinology at Children’s National Hospital, a program ranked in the top 10 by U.S. News & World Report. “In this study, our goal is to understand if vosoritide may be a safe and effective treatment option for certain genetically defined short stature syndromes.”

This clinical trial has been approved by the FDA and funded by BioMarin. Children’s National is the only site in the world offering this therapy for patients with these conditions. The study is currently underway and subject recruitment is ongoing. There are 9 participants enrolled to date.

“This study could fundamentally change the way we treat certain growth disorders”, says Dr. Dauber.

For more information on the clinical trial, click here.