Dear colleagues,

As national reference centre for AMC, we have established a randomized, double-blinded, N-of-1 protocol for a therapeutic trial for adult individuals with monoallelic PIEZO2-related distal arthrogryposis.

Distal arthrogryposis type 5 (DA5) is associated with gain-of-function mutations in the PIEZO2 gene, which 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. The primary endpoint is the patient's daily pain assessment using a numerical rating scale.Secondary endpoints include treatment tolerance, impact of the treatment on the use of co-analgesics and quality of life.

In order to extend the number of individuals and submit to the ERDERA Clinical Trial call (LOI due Sept 10^th, phase 1 due Sept 29^th), 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.

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