Gene/phenotype/disorder of interest
PIEZO2 (MIM#613629) / Distal arthrogryposis type 5 (ORPHA:1154)
Abstract
As national reference centre for arthrorgyposis multiplex congenita (AMC), we have established a therapeutic trial protocol for adult individuals with distal arthrogryposis type 5 (DA5), caused by hetorozygous gain-offunction variants in the PIEZO2 gene. PIEZO2 encodes a non-selective cation channel expressed in peripheral somatosensory afferent neurons of the dorsal root ganglia. Pain is a major complication and remains poorly controlled by conventional analgesic treatments.
The goal of our study is to test the efficacy in controlling pain of a repurposed antagonist of voltage-gated sodium channels. Secondary endpoints include treatment tolerance, impact of the treatment on the use of coanalgesics and quality of life.
In order to extend the number of individuals and submit to the ERDERA Clinical Trial call, we would like to reach out to other clinicians/ centres in charge of adult individuals affected by PIEZO2 related DA and potentially interested in participating.
Coordinating clinician
Klaus DIETERICH; kdieterich@chu-grenoble.fr
Institution
Department of Medical Genetics, CHU Grenoble Alpes, France
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: N
- Resampling of patients: N
- Linked to a translational/basic research project? N