Offered by: Nemours Children's
Location: Delaware Valley
Effect of TRPV4 Mutation on Calcium Channel Function — Toward New Therapies
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.
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.
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.
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