Work

Assessing Gene Therapy Efficacy in Infantile-Onset Pompe Disease

Year: 2024

Type: article

Abstract: We report the novel finding of a widespread reduction in myocardial native T1 values and size of abnormal regions following gene therapy in a pediatric patient with infantile-onset Pompe disease. We emphasize the importance of serial cardiac magnetic resonance in assessing the efficacy of gene therapy and monitoring myocardial alterations in Pompe disease.

Source: JACC Case Reports

DOI: 10.1016/j.jaccas.2024.102446

Authors: Wanbing Wang, Xinghua Zhang, Jinhao Lyu, Fei Yan, Xin Lou

Institution: Chinese PLA General Hospital

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $850