Clinical Trial
Offered by: Nemours Children's
Location: Delaware Valley
Trial Name
Effect of TRPV4 Mutation on Calcium Channel Function — Toward New Therapies
What is the trial about?
This study is looking at kids with Metatropic or other skeletal dysplasias to see what changes in the TRPV4 gene can tell us about disease severity.
Who can participate?
The study may include up to 20 patients who have Metatropic Dysplasia, Kozlowski type dysplasia, and Brachyolimias. We may include up to 6 patients without skeletal dysplasia as controls.
What is involved?
Participants will be asked to provide a blood and tissue (skin/bone) sample which will be collected during the child’s next surgical procedure. The blood sample will be sent to a laboratory to recover DNA and the tissue will be studied for disease related defects.
Contact Nemours Children's Clinical Trials
Trial Name: Effect of TRPV4 Mutation on Calcium Channel Function — Toward New Therapies
IRB#: 220473
Is a Clinical Trial Right for Your Child?
Learn more about clinical trials and get answers to questions you might have.
Go to FAQs View All Clinical Trials
Nemours has a number of service regions. Selecting your region will help us show you the right contact information and the most relevant content for you.