- Not accepting healthy volunteers
- UTSW Principal Investigator: KAITLIN YOUNG BATLEY
summary
aspartylglucosaminuria (aGu) is a devastating neurodegenerative lysosomal storage disease (LSD) affecting children and young adults. The only available treatments are palliative care and supportive developmental therapies. aGu is caused by deficiency of the lysosomal enzyme aspartylglucosaminadase (aGa). This is a secreted lysosomal enzyme that cleaves the glycoprotein bond between sugar residues and proteins. Patients present with early developmental delay, plateau of development in adolescence, and regression in early adulthood [1,2]. adult-onset epilepsy, recurrent respiratory and skin infections, and connective tissue problems are also reported [3-5]. Due to a founder effect, most patients are of Finnish descent, however, variants have been identified worldwide. aGu is a particularly attractive disease to treat via gene therapy for two reasons: 1) it has a large intervention window because it is a slowly progressive neurodegenerative disorder and 2) there are robust[See protocol for complete text]
objective
The study objectives are as follows: * To quantify Glcnac-asn in brain cells in non aspartylglucosaminuria patients * To identify useful biomarkers and clinical outcome measures for future treatment studies * To evaluate the relationship of Glcnac-asn in aGu and controls to clinical severity