Evaluating a biomarker for assessing gene therapy effectiveness in GM1 gangliosidosis
Validation of analytical methods for quantification of a pentasaccharide biomarker in efficacy assessment of AVV treatment for GM1 gangliosidosis
['FUNDING_U01'] · WASHINGTON UNIVERSITY · NIH-11046644
This study is looking at a special test that measures a sugar in your body fluids to see how well a new gene therapy works for GM1 gangliosidosis, a rare genetic condition, so that doctors can better track treatment progress and help improve your health.
Quick facts
| Phase | ['FUNDING_U01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | WASHINGTON UNIVERSITY (nih funded) |
| Locations | 1 site (SAINT LOUIS, UNITED STATES) |
| Trial ID | NIH-11046644 on ClinicalTrials.gov |
What this research studies
This research focuses on GM1 gangliosidosis, a rare genetic disorder caused by a deficiency in the β-galactosidase enzyme. The study aims to validate a specific pentasaccharide biomarker that can be measured in urine, plasma, and cerebrospinal fluid to assess the effectiveness of adeno-associated viral (AAV) gene therapy. By using advanced techniques like liquid chromatography-tandem mass spectrometry, the research seeks to establish a reliable method for evaluating treatment responses in patients. This could help in monitoring the efficacy of new therapies and improving patient outcomes.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with GM1 gangliosidosis, particularly those who may be eligible for AAV gene therapy.
Not a fit: Patients with other genetic disorders or those not diagnosed with GM1 gangliosidosis may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better assessment methods for the effectiveness of gene therapies in treating GM1 gangliosidosis, potentially improving patient care.
How similar studies have performed: Previous research has shown promise in using biomarkers for treatment assessment in similar genetic disorders, indicating a potential for success in this approach.
Where this research is happening
SAINT LOUIS, UNITED STATES
- WASHINGTON UNIVERSITY — SAINT LOUIS, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: JIANG, XUNTIAN — WASHINGTON UNIVERSITY
- Study coordinator: JIANG, XUNTIAN
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.