Identifying genetic causes of bladder dysfunction
Discovery and pathogenic characterization of novel monogenic causes of bladder dysfunction
['FUNDING_CAREER'] · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · NIH-11321941
This study is looking at how genes might cause bladder problems, especially in people born with kidney and urinary tract issues, and it aims to find new genetic reasons for these bladder difficulties so that doctors can offer better treatments tailored to each person's needs.
Quick facts
| Phase | ['FUNDING_CAREER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | RESEARCH INST NATIONWIDE CHILDREN'S HOSP (nih funded) |
| Locations | 1 site (COLUMBUS, UNITED STATES) |
| Trial ID | NIH-11321941 on ClinicalTrials.gov |
What this research studies
This research investigates the genetic factors contributing to bladder dysfunction, particularly focusing on congenital anomalies of the kidney and urinary tract (CAKUT). By utilizing whole exome sequencing, the study aims to discover novel monogenic causes of bladder dysfunction and understand how these genetic variations affect bladder function and development. Patients may undergo genetic testing to identify potential mutations that could explain their bladder issues, leading to better-targeted treatments and management strategies.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals, particularly children, who have been diagnosed with bladder dysfunction or related urinary tract anomalies.
Not a fit: Patients with bladder dysfunction not linked to genetic causes or those with acquired conditions unrelated to congenital anomalies may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment options for patients with bladder dysfunction caused by genetic factors.
How similar studies have performed: Previous research has successfully identified genetic causes of other congenital conditions, suggesting that this approach may yield valuable insights into bladder dysfunction as well.
Where this research is happening
COLUMBUS, UNITED STATES
- RESEARCH INST NATIONWIDE CHILDREN'S HOSP — COLUMBUS, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MANN, NINA — RESEARCH INST NATIONWIDE CHILDREN'S HOSP
- Study coordinator: MANN, NINA
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.