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.

Study Overview

• Status: Completed
• Conditions: Erythromelalgia
• Intervention / Treatment: Drug: Placebo; Drug: Carbamazepine

• Study Type: Interventional
• Enrollment (Actual): 2
• Phase: Phase 4

Contacts and Locations

Study Locations

• United States
  • Connecticut
    • New Haven, Connecticut, United States, 06520
      • Yale University
    • West Haven, Connecticut, United States, 06516
      • VA Connecticut Healthcare System

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years to 78 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

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

Exclusion Criteria:

• patients with no identified NaV1.7 mutation

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: Randomized
• Interventional Model: Crossover Assignment
• Masking: Double

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Active Comparator: Carbamazepine; 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.	Drug: Carbamazepine; 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.; Other Names: Tegretol
Placebo Comparator: Placebo; 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.	Drug: Placebo

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Carbamazepine Affects Pain in Patients With S241T NaV1.7 IEM Mutation	15 days

Secondary Outcome Measures

Outcome Measure	Time Frame
Carbamazepine Affects Mean Duration of Pain Episode	15 days

Collaborators and Investigators

• Sponsor: VA Connecticut Healthcare System
• Investigators: Principal Investigator: Stephen Waxman, MD, PhD, VAMC West Haven and Yale University

Study record dates

Study Major Dates

• Study Start: April 1, 2014
• Primary Completion (Actual): July 1, 2016
• Study Completion (Actual): July 1, 2016

Study Registration Dates

• First Submitted: August 10, 2014
• First Submitted That Met QC Criteria: August 11, 2014
• First Posted (Estimate): August 12, 2014

Study Record Updates

• Last Update Posted (Actual): June 6, 2017
• Last Update Submitted That Met QC Criteria: May 8, 2017
• Last Verified: May 1, 2017

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Peripheral Vascular Diseases; Erythromelalgia; Physiological Effects of Drugs; Molecular Mechanisms of Pharmacological Action; Central Nervous System Depressants; Peripheral Nervous System Agents; Analgesics; Sensory System Agents; Analgesics, Non-Narcotic; Tranquilizing Agents; Psychotropic Drugs; Membrane Transport Modulators; Anticonvulsants; Sodium Channel Blockers; Antimanic Agents; Cytochrome P-450 Enzyme Inducers; Cytochrome P-450 CYP3A Inducers; Carbamazepine
• Other Study ID Numbers: SW0023