Why Alport syndrome leads to kidney damage
Elucidating novel mechanisms in the pathogenesis of Alport syndrome
['FUNDING_R01'] · UT SOUTHWESTERN MEDICAL CENTER · NIH-11194456
This project will look at how a collagen protein called α5 made by different kidney cells contributes to kidney injury in people with X‑linked Alport syndrome so we can better understand causes of blood and protein in the urine.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UT SOUTHWESTERN MEDICAL CENTER (nih funded) |
| Locations | 1 site (DALLAS, UNITED STATES) |
| Trial ID | NIH-11194456 on ClinicalTrials.gov |
What this research studies
From my perspective as a patient, the team will compare how the α5 collagen chain made by glomerular cells versus other kidney cells affects disease. They will study tubular cells to see how loss or abnormal α5 changes cell shape, survival, and signaling. The work uses lab models, genetic tools, and tissue samples to map the molecular steps that lead to proteinuria and scarring. The goal is to fill gaps in how Alport syndrome progresses beyond the glomerulus.
Who could benefit from this research
Good fit: People with a confirmed diagnosis of Alport syndrome—particularly males with X‑linked COL4A5 mutations—would be the most relevant candidates for any future patient-facing activities.
Not a fit: People without Alport syndrome or those already on long-term dialysis are unlikely to receive direct benefit from these lab-focused studies in the short term.
Why it matters
Potential benefit: If successful, the findings could point to new treatment targets to slow or prevent kidney damage in people with X‑linked Alport syndrome.
How similar studies have performed: Prior studies have clarified how collagen defects affect the glomerulus, but examining α5 function in kidney tubules is largely a new direction.
Where this research is happening
DALLAS, UNITED STATES
- UT SOUTHWESTERN MEDICAL CENTER — DALLAS, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MARCIANO, DENISE K — UT SOUTHWESTERN MEDICAL CENTER
- Study coordinator: MARCIANO, DENISE K
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.
Conditions: Alport syndrome, Alport syndrome (AS, ATS), Alport syndrome-like hereditary nephritis, Alport syndrome-like hereditary nephritis (ASLHN, ASLN), Alport's Syndrome