Clinical Trials for Short Stature Homeobox Gene Mutation
There is currently 1 ongoing clinical trial investigating treatment options for children with Short Stature Homeobox-Containing Gene Deficiency. This trial is evaluating vosoritide, a medication designed to promote bone growth, compared to continued human growth hormone treatment. The trial is being conducted across multiple European countries and involves children who have not responded adequately to standard growth hormone therapy.
Clinical trial locations
- France
- Germany
- Italy
- Spain
Study of Vosoritide for Children with Turner Syndrome, Short Stature Homeobox-Containing Gene Deficiency, and Noonan Syndrome Not Responding to Growth Hormone
This clinical trial is investigating whether vosoritide can offer a better treatment option for children with specific genetic growth conditions, including SHOX deficiency, who have not responded well to standard growth hormone therapy.
Main inclusion criteria:
- Children must be at least 3 years old, with girls younger than 10 and boys younger than 11 at enrollment
- A genetically confirmed diagnosis of Turner syndrome, SHOX deficiency, or Noonan syndrome is required
- Height must be significantly below average for age and sex, with a height Z-score of -2.00 or lower, meaning the child’s height is at least two standard deviations below the average
- Children must be at Tanner Stage 1, indicating they have not yet entered puberty
- At least one year of continuous human growth hormone treatment prior to joining the study
- Previous growth hormone treatment must have shown an inadequate response, meaning growth has not improved as expected
Main exclusion criteria:
- Children without a confirmed diagnosis of Turner Syndrome, SHOX deficiency, or Noonan Syndrome cannot participate
- Participants outside the specified age range are excluded
- Individuals from vulnerable populations who cannot provide informed consent are not eligible
Focus and goal of the trial:
The study aims to compare the effectiveness of vosoritide with continued human growth hormone therapy. Vosoritide is a C-type natriuretic peptide analog that works by targeting a specific pathway in the body that regulates bone growth. The trial will monitor growth over six months initially, with an extended treatment phase of up to 24 months. Researchers will track changes in height and calculate height Z-scores to determine if vosoritide can promote better growth outcomes than growth hormone alone. The study also includes comprehensive safety monitoring to observe any side effects.
Investigational drugs:
The trial is testing vosoritide, which is administered through subcutaneous injection (under the skin). Vosoritide mimics natural substances in the body that help control growth and development, specifically targeting bone growth pathways. It is being compared to human growth hormone, the standard treatment for these conditions. Three different doses of vosoritide will be evaluated to determine the most effective dose for promoting growth in children who have not responded adequately to growth hormone treatment.
Summary
Currently, there is one active clinical trial available for children with Short Stature Homeobox-Containing Gene Deficiency who have not responded well to standard growth hormone therapy. This trial is notable for its European focus, with sites in Germany, France, Spain, and Italy, making it accessible to families across multiple countries. The study represents an important step forward in finding alternative treatments for children with genetic growth conditions, focusing specifically on those for whom existing therapies have proven insufficient. The trial’s inclusion of three different doses of vosoritide will help researchers identify the optimal treatment approach for this patient population.
