Investigating genetic causes of nephrotic syndrome
Official title: Whole Genome Sequencing for Nephrotic Syndrome Discovery
Funded at Boston Children's Hospital · NIH-10696083 · Data updated 2026-11-12
This study is looking at the genes that might cause primary nephrotic syndrome, a kidney condition that makes you lose a lot of protein in your urine, to help find better ways to understand and treat it for patients like you.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | September 18, 2019 |
| Project end | August 31, 2025 |
| Funding year | 2023 |
| Award (this year) | $564,946 |
| NIH project number | 5R01DK119380-06 |
| Project ID | NIH-10696083 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with primary nephrotic syndrome.
✕Less likely to help
Patients with nephrotic syndrome caused by secondary factors or those without a genetic component may not benefit from this research.
What this research studies
This research focuses on understanding the genetic factors that contribute to primary nephrotic syndrome, a rare kidney disorder that leads to significant protein loss in urine. By utilizing whole genome sequencing and RNA sequencing, the study aims to identify genetic variants associated with the disease and their clinical implications. Patients with nephrotic syndrome will be analyzed to uncover molecular mechanisms that could lead to better classification and treatment options. The goal is to enhance patient care through a deeper understanding of the disease's underlying biology.
Why it matters
Potential benefit: If successful, this research could lead to more precise diagnoses and targeted treatments for patients with nephrotic syndrome.
How similar studies have gone: Previous research has shown promise in using genetic studies to improve understanding and treatment of nephrotic syndrome, indicating that this approach is both relevant and potentially impactful.
Where this research is happening
-
Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Sampson, Matthew Gordon — Boston Children's Hospital
- Study coordinator: Sampson, Matthew Gordon
Related research
Other NIH-funded projects on the same topics.
-
Whole genome sequencing to uncover molecular causes in nephrotic syndrome
A study to map the genetic and molecular factors behind nephrotic syndrome and related kidney diseases to help diagnose and guide future treatments for patients.
-
Sodium-related edema in nephrotic syndrome and ANGPTL4
A physician-scientist group is studying how a protein called ANGPTL4 may drive skin edema in nephrotic syndrome, with experiments in rodents and tests on human ANGPTL4 fragments.
-
Immune-driven tubulointerstitial injury in pediatric nephrotic syndrome
A physician-scientist aims to understand how immune processes cause kidney tissue damage in children with difficult-to-treat nephrotic syndrome.
-
Hodgkin lymphoma–linked nephrotic syndrome and kidney injury
This project looks at how Hodgkin lymphoma may cause nephrotic syndrome by changing a kidney gene and exposing kidney cells to lymphoma-related substances.
-
Targeting calcineurin regulators for better diagnostics and treatments for nephrotic syndrome
This work looks at whether proteins that control calcineurin can be used to make better tests and more precise treatments for people with nephrotic syndrome.
-
Investigating the role of a specific protein in childhood kidney disease
This study is looking at how a protein called CD93 might affect kidney health in children with Idiopathic Nephrotic Syndrome, and by examining blood and urine samples, researchers hope to find clues that could help doctors better understand and treat this condition.
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.