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News & Recognition
- A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia
- Genetic Testing for Patients With Presumably Genetic Conditions and Family Members
- Evaluate Efficacy, Safety & Pharmacokinetics of Denosumab in Children With Osteogenesis Imperfecta
- Effect of TRPV4 Mutation on Calcium Channel Function - Toward New Therapies
- Genetic Basis of Cryptorchidism: Prospective Study
- Primordial Registry
- Rhizomelic Chondrodysplasia Punctata Registry
Effect of TRPV4 Mutation on Calcium Channel Function - Toward New Therapies
Offered by: Nemours
Location: Delaware Valley
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 Clinical Trials
Trial Name: Effect of TRPV4 Mutation on Calcium Channel Function - Toward New Therapies