Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic Protoporphyria (INHEPP)
In erythropoietic protoporphyria there is an accumulation of protoporphyrin IX in the plasma and liver. The reason it builds up is either the last step to make heme, insertion of iron into protoporphyrin IX, is rate limiting or there is an increase in activity in the first step in the heme pathway.
It may be possible to decrease the amount of protoporphyrin IX made and see a decrease in symptoms. The first step to make heme is the key step in the pathway and it uses vitamin B6 as a cofactor. If the investigators can limit the amount of vitamin B6 the investigators can possibly reduce the activity of this rate limiting step. With decreased activity of the enzyme it may be possible for the body to utilize all the protoporphyrin IX that is made so that none builds up.
Erythropoietic Protoporphyria (EPP)
X Linked Erythropoietic Protoporphyria
|Study Design:||Endpoint Classification: Safety/Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
|Official Title:||Quantification of the Effects of Isoniazid Treatment on Erythrocyte and Plasma Protoporphyrin IX Concentration and Plasma Aminolevulinic Acid in Patients With Erythropoietic Protoporphyria|
- Decrease in plasma protoporphyrin [ Time Frame: 3 months ] [ Designated as safety issue: No ]Plasma protoporphyrin will be measured ever 2 weeks for 3 months.
- Sun sensitivity [ Time Frame: 3 months ] [ Designated as safety issue: No ]Patients will be asked if there is a change in sun sensitivity
|Study Start Date:||March 2012|
|Estimated Study Completion Date:||February 2014|
|Estimated Primary Completion Date:||February 2014 (Final data collection date for primary outcome measure)|
Subjects will receive isoniazid daily for 2 months. Subjects will be seen every 2 weeks to obtain lab samples and health check.
Isoniazid 5 mg/Kg up to 300 mg per day. Oral tablets. 2 months.
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|United States, Utah|
|University of Utah School of Medicine|
|Salt Lake City, Utah, United States, 84132|