Gene therapy to replace the missing GALT enzyme in classic galactosemia
Gene Therapy in a GALT-null Rat Model of Classic Galactosemia
['FUNDING_OTHER'] · EMORY UNIVERSITY · NIH-11179344
Testing a one-time gene therapy that delivers a working GALT enzyme to try to prevent the long-term problems of classic galactosemia in people born without the enzyme.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | EMORY UNIVERSITY (nih funded) |
| Locations | 1 site (ATLANTA, UNITED STATES) |
| Trial ID | NIH-11179344 on ClinicalTrials.gov |
What this research studies
This project uses a viral carrier (AAV9) to deliver a working copy of the GALT gene into a rat model that lacks the enzyme, to see if restoring GALT prevents the kinds of speech, learning, movement, growth, and reproductive problems that people with classic galactosemia often face. Researchers will give the gene therapy to GALT-null rats and follow them over time to measure levels of galactose and its metabolites (galactose-1P and galactitol) and look for improvements in growth and neurological and reproductive outcomes. The work is preclinical and done at Emory University using established animal models to learn whether this approach could work safely and broadly. Findings will inform whether a similar gene therapy could move toward human clinical trials in the future.
Who could benefit from this research
Good fit: Ideal future candidates would be people with classic galactosemia caused by GALT deficiency, especially infants identified by newborn screening who might benefit most from early correction of the enzyme defect.
Not a fit: People whose condition is not caused by GALT deficiency, those with irreversible late-stage damage, or individuals with unrelated health problems may not benefit from this specific therapy.
Why it matters
Potential benefit: If successful, this approach could lead to a one-time treatment that reduces harmful galactose metabolites and prevents lifelong cognitive, motor, growth, and reproductive complications of classic galactosemia.
How similar studies have performed: AAV-based gene therapies have shown success for other inherited metabolic diseases in animals and some human trials, but applying AAV9 GALT replacement specifically to galactosemia is novel and mostly untested in humans.
Where this research is happening
ATLANTA, UNITED STATES
- EMORY UNIVERSITY — ATLANTA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: FRIDOVICH-KEIL, JUDITH L. — EMORY UNIVERSITY
- Study coordinator: FRIDOVICH-KEIL, JUDITH L.
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.