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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Clinical and MRI Correlations in GM1 Patients: Fin ...
Clinical and MRI Correlations in GM1 Patients: Finding Biomarkers to Predict Treatment Response with Gene Therapy
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This document discusses a study conducted to find biomarkers that can predict the response to gene therapy in patients with GM1 gangliosidosis. GM1 gangliosidosis is a rare lysosomal storage disorder characterized by the buildup of sphingolipid metabolites. It is divided into three types based on symptom onset: Type I (infantile), Type II (late infantile and juvenile subtypes), and Type III (adult). The study aimed to use clinical endpoints such as the Vineland Adaptive Behavior Scale and non-invasive MRI techniques to assess the effectiveness of gene therapy.<br /><br />The study compared 41 untreated patients with Type II disease and two patients who received gene therapy. MRI analysis showed that untreated patients had white matter tracts with decreased fractional anisotropy (FA), indicating structural abnormalities, while the treated patients showed an increase in FA in the same regions. The behavior of untreated patients deteriorated over time, while the adaptive abilities of treated patients remained stable after gene therapy.<br /><br />The results suggest that differential diffusion tensor imaging (DTI) can be used to assess the response to treatment in GM1 gangliosidosis. Regions such as the corpus callosum, superior longitudinal fasciculus, and cingulum showed significant changes in FA. Adaptive behavior, as measured by the Vineland Adaptive Behavior Scale, was severely impaired in untreated patients but remained stable in treated patients.<br /><br />Overall, the study highlights the potential of using non-invasive MRI techniques to find biomarkers and assess the effectiveness of gene therapy in patients with GM1 gangliosidosis. Further exploration of the correlation between clinical outcomes and differential DTI is needed to provide better treatment options for patients with this disorder and other neurodegenerative disorders.
Asset Subtitle
Presenting Author - Maria T. Acosta, MD; Co-Author - Zeynep Vardar, MD, MD; Co-Author - Precilla D'Souza, PNP, DNP; Co-Author - Jean M. Johnston, RN, MS; Co-Author - Anna L. Kuhn, PhD; Co-Author - Audrey E. Thurm, PhD; Co-Author - Cristan Farmer, PhD; Co-Author - Mohammed S. Shazeeb, PhD; Co-Author - Cynthia J. Tifft, MD, PhD;
Meta Tag
Lysosomal Diseases
Methodology
Therapy
Co-Author
Zeynep Vardar, MD, MD
Co-Author
Precilla D'Souza, PNP, DNP
Co-Author
Jean M. Johnston, RN, MS
Co-Author
Anna L. Kuhn, PhD
Co-Author
Audrey E. Thurm, PhD
Co-Author
Cristan Farmer, PhD
Co-Author
Mohammed S. Shazeeb, PhD
Co-Author
Cynthia J. Tifft, MD, PhD
Presenting Author
Maria T. Acosta, MD
Keywords
biomarkers
gene therapy
GM1 gangliosidosis
lysosomal storage disorder
sphingolipid metabolites
clinical endpoints
Vineland Adaptive Behavior Scale
non-invasive MRI techniques
fractional anisotropy
diffusion tensor imaging
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