Carbamazapine for Inherited Erythromelalgia Patients With NaV1.7 Mutations

VA Connecticut Healthcare System

Status and phase: Completed; Phase 4

Conditions: Erythromelalgia

Treatments: Drug: Placebo; Drug: Carbamazepine

Study type: Interventional

Funder types: Other U.S. Federal agency

Identifiers

NCT02214615

SW0023

Details and patient eligibility

About

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.

Enrollment: 2 patients

Sex: All

Ages: 18 to 80 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

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

Exclusion criteria

• patients with no identified NaV1.7 mutation

Trial design

Primary purpose: Treatment

Allocation: Randomized

Interventional model: Crossover Assignment

Masking: Double Blind

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2 participants in 2 patient groups, including a placebo group

Carbamazepine

Active Comparator group

Description:

Administered in gradual doses from 200 mg twice a day increasing to no more than 800 mg twice a day if symptoms do not reduce. After 2 weeks of steady dose drug will be tapered down every 3 days.

Treatment:

Drug: Carbamazepine

Placebo

Placebo Comparator group

Description:

Administered in gradual doses from 200 mg twice a day increasing to no more than 800 mg twice a day if symptoms do not reduce to match dosing with carbamazepine. After 2 weeks of steady dose drug will be tapered down every 3 days.

Treatment:

Drug: Placebo