Steven Gray
University of Texas Southwestern Medical Center, TX·Medicine & Clinical Research
Cells dispose of worn-out proteins inside lysosomes, small acidic compartments that act as recycling centers. When one of the enzymes in that pathway is missing, undigested material piles up and the compartments swell, damaging cells, especially in the brain.
- Fields
Medicine & Clinical Research
Genetics
Neuroscience
- Topics
gene therapy
adeno-associated virus
aspartylglucosaminuria
- Grants
- 1 known grant, through Aug 2027
What they work on
- Assess the safety and toxicology of AAV9/AGA, a harmless adeno-associated virus carrying a working copy of the AGA gene, in preclinical models following intrathecal injection into the fluid around the spinal cord.
- Manufacture AAV9/AGA vector at the quality and scale required for administration to human patients in a Phase I/II trial.
- Refine clinical biomarkers for judging treatment effect in aspartylglucosaminuria, including imaging that measures accumulated AGA enzyme substrate in discrete brain regions.
- Compile the data and obtain the regulatory approvals needed to initiate a Phase I/II clinical trial of intrathecal AAV9/AGA in patients with aspartylglucosaminuria.
More about the research
Aspartylglucosaminuria (AGU) is one such inherited disorder: a faulty AGA gene leaves cells unable to break down glycoproteins, so a sugar-amino acid fragment called aspartylglucosamine accumulates in lysosomes throughout the body. Children with AGU develop slowed and then regressing psychomotor development, along with skeletal and joint abnormalities, deteriorate sharply around their third decade, and typically live about 40 to 50 years. There is no treatment.
Why it matters
AGU is a progressive neurological disease with no available treatment; patients lose mental and physical function and depend on supportive care from early adulthood. Completing these IND-enabling studies could allow the first gene therapy trial for AGU to begin, offering affected children a possible disease-modifying option. Because the disease has clear biomarkers, the results may also show how well spinal-fluid delivery of AAV9 works as a platform for many other inherited neurological disorders.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Stephen Kaler
Columbia University, NY·Medicine & Clinical Research
Evaluate the preclinical safety and tolerability of AAV9 gene therapy delivering a shortened, codon-optimized ATP7A copper transporter gene for Menkes disease.
Xin Chen
University of Texas Southwestern Medical Center, TX·Genetics
Test whether AAV9fyhr-delivered PDHA1, injected into the spinal fluid of E75A mice at several doses and at young or older ages, improves behavior and corrects metabolic measures in this model of pyruvate dehydrogenase complex deficiency.
Christina Pacak
University of Minnesota, MN·Genetics
Optimize the capsid, or virus shell, and the promoter, the DNA switch controlling gene activity, of an AAV vector that delivers the ERCC5 (XPG) gene to improve treatment in Xpg-/- mice.
The school
University of Texas Southwestern Medical Center: 40 labs on PI Pages, $869M a year on research, 86 research doctorates a year.
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