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.
Name: Carbamazepine
Description: Day 1: Take 200 mg twice a day. Day 2: Take 200 mg twice a day. Day 3: Take 200 mg twice a day. Day 4: Take 200 mg twice a day. Day 5: Take 400 mg twice a day. Day 6: Take 400 mg twice a day. Day 7: Take 400 mg twice a day. Day 8: Take 400 mg twice a day. Day 9: Take 600 mg twice a day. Day 10: Take 600 mg twice a day. Day 11: Take 600 mg twice a day. Day 12: Take 600 mg twice a day. Day 13: Take 800 mg capsules twice a day. Day 14: Take 800 mg twice a day. Day 15: 800 mg twice a day. Day 16: Take 800 mg twice a day. Taper Down (After Visit 4 and 7) If maximal dose of 800 mg/day has been achieved, tapering down will take 9 days Taper down for 600 mg/day will take 6 days, and for 400 mg/day will take 3 days.Type: DrugCarbamazepine
Name: Placebo
Type: DrugPlacebo
Allocation: Randomized
Crossover Assignment
There is one SNP
Carbamazepine Affects Pain in Patients With S241T NaV1.7 IEM Mutation. --- S241T ---
Inclusion Criteria: - diagnosis/symptoms of EM - specific NaV1.7 sodium channel mutations (including S241T) Exclusion Criteria: - patients with no identified NaV1.7 mutation Inclusion Criteria: - diagnosis/symptoms of EM - specific NaV1.7 sodium channel mutations (including S241T) Exclusion Criteria: - patients with no identified NaV1.7 mutation Erythromelalgia Erythromelalgia null --- S241T ---
Inclusion Criteria: - diagnosis/symptoms of EM - specific NaV1.7 sodium channel mutations (including S241T) Exclusion Criteria: - patients with no identified NaV1.7 mutation Inclusion Criteria: - diagnosis/symptoms of EM - specific NaV1.7 sodium channel mutations (including S241T) Exclusion Criteria: - patients with no identified NaV1.7 mutation Erythromelalgia Erythromelalgia null --- S241T --- --- S241T ---