SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT02214615

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

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.

NCT02214615 Erythromelalgia
MeSH: Erythromelalgia

2 Interventions

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: Drug

Carbamazepine

Name: Placebo

Type: Drug

Placebo


Primary Outcomes

Measure: Carbamazepine Affects Pain in Patients With S241T NaV1.7 IEM Mutation

Time: 15 days

Secondary Outcomes

Measure: Carbamazepine Affects Mean Duration of Pain Episode

Time: 15 days

Purpose: Treatment

Allocation: Randomized

Crossover Assignment


There is one SNP

SNPs


1 S241T

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 ---



HPO Nodes