Alpha lipoic acid as a novel therapeutic approach to cystinuria. (3rd April 2018)

• Record Type: Journal Article
• Authors: Wiener, Scott V.; Chi, Thomas; Stoller, Marshall L
• Is Part Of: Expert opinion on orphan drugs. Volume 6:Number 4(2018)
• Page Start: 295
• Page End: 300
• Publication Date: 2018-04-03
• Subjects: Alpha Lipoic Acid -- Cystinuria -- Nephrolithiasis -- Penicillamine -- Tiopronin; Orphan drugs -- Periodicals; Rare diseases -- Periodicals; Chemotherapy -- Periodicals; 615.1
• DOI: 10.1080/21678707.2018.1462696
• Languages: English
• ISSNs: 2167-8707

Abstract

ABSTRACT: Introduction: Cystinuria is a rare form of kidney stone disease inherited through mutations in the cystine transporter genes SLC3A1 and SLC7A9. Patients suffer from frequent and painful renal cystine calculus formation necessitating repeated radiation exposure, hospitalizations and surgical interventions. Available dietary and pharmacologic managements are burdensome to patients due to the sheer volume of pills and fluid that must be consumed and display limited efficacy. Areas Covered: The epidemiology, pathophysiology, and currently available options for dietary and pharmacological management including hyperhydration, modification of urinary pH, organosulfur drugs and crystal Inhibitors are reviewed. A novel drug in clinical trials, alpha lipoic acid (ALA), is presented and its hypothesized mechanism of action reviewed. Expert Opinion: A novel potential therapy, alpha lipoic acid, has been strikingly effective when used in a knockout mouse model. This compound is available over the counter as a food supplement, has been used in multiple human trials for other disease processes and has been shown to be safe and well tolerated. The promise of ALA is to reduce the burden of medications, stone events, surgical interventions, and financial concerns in cystinuric patients.