AAV9 gene therapy for Aspartylglucosaminuria (AGU)

IND-enabling studies for Aspartylglucosaminuria (AGU) to support the initiation of an AAV9/AGA gene transfer clinical trial

NIH-funded research Ut Southwestern Medical Center · NIH-11169696

This project is preparing an AAV9-based gene therapy to deliver a working AGA gene for children with Aspartylglucosaminuria (AGU).

Quick facts

Grant typeU01 cooperative agreement
Study typeNIH-funded research
Funding institutionUt Southwestern Medical Center NIH-funded
Lab location1 site (Dallas, United States)
Project IDNIH-11169696 on NIH RePORTER

What this research studies

If I or my child had AGU, this project would be doing the lab and animal safety tests needed to move a gene therapy into humans. Researchers will produce an AAV9 viral vector carrying a healthy AGA gene, run assays to measure toxic substrate levels, and perform preclinical safety and dosing studies. The plan includes intrathecal delivery (injection into spinal fluid) to reach the brain and builds on prior FDA discussions to prepare an IND application. If those steps are completed, the team aims to open a Phase I/II clinical trial where eligible patients could receive the therapy and be followed for safety and benefit.

Who could benefit from this research

Good fit: Ideal candidates would be people with genetically confirmed AGU, especially children with early-stage disease who meet safety criteria and can travel to the trial site.

Not a fit: People with very advanced, late-stage disease, significant medical contraindications, or who cannot undergo intrathecal delivery may not receive benefit from this approach.

Why it matters

Potential benefit: If successful, the therapy could lower the toxic buildup that drives brain damage in AGU and slow or prevent worsening of developmental and neurological problems.

How similar studies have performed: AAV9 delivered intrathecally has been used in other rare pediatric neurodegenerative disorders and progressed to early human trials, providing precedent though AGU-specific results are still experimental.

Where this research is happening

Dallas, United States

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions Austin syndromeBatten DiseaseBatten-Mayou DiseaseBatten-Spielmeyer-Vogt Disease
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.