Mapping human skeletal muscle glycogen in Pompe disease patients

Le résumé fourni par la source

Motivation: Pompe disease is a glycogen storage disease which leads to abnormal glycogen accumulation in tissues such as skeletal muscle, but there is a lack of suitable noninvasive methods to assess disease progression and treatment response. Goal(s): To develop an MRI method for assessing glycogen levels in skeletal muscle of Pompe disease patients. Approach: We used glycoNOE MRI to detect glycogen and quantified signals using a Voigt and polynomial hybrid lineshape fitting model. Results: The glycoNOE signals showed significantly higher glycoNOE contrast in skeletal muscle for Pompe patients compared to the control (p < 0.0001). Impact: Glycogen level is an import marker for Pompe disease. Our proposed method is expected to be a useful tool for assessing disease progression and treatment response in Pompe disease and other glycogen storage diseases.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.