Carbamazapine for Inherited Erythromelalgia Patients With NaV1.7 Mutations

Pilot Study on the Response of Inherited Erythromelalgia Patients With NaV1.7 Mutations to Carbamazepine: Clinical Imaging Study

This research study is designed to investigate brain response using fMRI scan, and behavioral responses, to treatment with the drug carbamazepine (CBZ) in patients with the painful sodium channelopathy inherited Erythromelalgia (IEM). This study is designed to identify the central nervous system (CNS) regions that are activated during ongoing or evoked pain attacks, and the altered CNS response to CBZ treatment. This will advance our understanding of how IEM affects the brain. We also hope to validate a pharmacogenic approach to the study of IEM by use of an FDA approved drug. We hope, but cannot be sure, that subjects will directly benefit from this study.

Inclusion Criteria:

• diagnosis/symptoms of EM
• specific NaV1.7 sodium channel mutations (including S241T)

Exclusion Criteria:

• patients with no identified NaV1.7 mutation