Quantification of Glucose-6-Phosphate (G6P) and Gamma-Aminobutyric Acid (GABA) in the brain using 7T MRI or 3T Spectroscopy in Lafora Disease and Neurogenetic Diseases.
Study ID: STU-2021-0870
Summary
after informed consent is obtained, the following information will be collected from their medical records. -General medical history -Lafora disease-specific medical history including stage/CGi score -Concomitant medications and procedures -Demographics -Weight and Height -Physical and neurological examinations -Blood and CSF data -electroencephalography eeG data MR Spectroscopy The brain G6P and GaBa will be measured by using non-invasive MRS at 7T or 3 Tesla at the advanced imaging Research Center, uTSouthwestern Medical Center. MRS scanning will be conducted on a Philips 'achieva' 7T scanner and/ or 3 Tesla , and spectral data acquired by positioning the subject head-first and supine in the MRi scanner (achieva, Philips Healthcare, Cleveland, oH), with the back of the head positioned in the center of a half-cylinder-shaped partial volume RF coil (Philips Healthcare, Cleveland, oH). MRS metabolite quantification will be achieved using standardized methods and protocols for MR spectroscopy (Ren, 20[See protocol for complete text]
The study objectives are as follows: -To quantify Glucose 6- Phosphate and GaBa measurement in brain cells in Lafora Disease and other neurogenetic Diseases. -To identify useful biomarkers and clinical outcome measures for future treatment studies -To evaluate the relationship of genotype to clinical severity