Understanding kidney changes in Fabry disease
Natural History and Structural Functional Relationships in Fabry Renal Disease Natural History, Structural Functional Relationships and Determinants of Renal Structural Responses (Changes) With Enzyme Replacement Therapy in Fabry Disease
This study looks at how kidney problems develop in people with Fabry disease before they start treatment to help understand the disease better and find ways to intervene early.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 50 (estimated) |
| Ages | 1 Year to 75 Years |
| Sex | All |
| Sponsor | University of Minnesota Academic / other |
| Locations | 2 sites (Minneapolis, Minnesota and 1 other locations) |
| Trial ID | NCT01581424 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the natural history of kidney changes in patients with Fabry disease before they start enzyme replacement therapy. It will analyze kidney biopsies to identify microscopic structural changes and correlate these with kidney function metrics such as glomerular filtration rate and urinary albumin excretion. The study seeks to establish a clearer understanding of how kidney injury progresses in Fabry patients, potentially leading to better early intervention strategies. By focusing on untreated patients, the research will provide insights into the disease's progression and its impact on kidney health.
Who should consider this trial
Good fit: Ideal candidates include patients diagnosed with Fabry disease who are undergoing kidney biopsies and have not received enzyme replacement therapy.
Not a fit: Patients with serum creatinine levels above 2.5 mg/dL or those with other renal diseases may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved early detection and intervention strategies for kidney dysfunction in Fabry disease patients.
How similar studies have performed: Other studies have shown success in understanding kidney function in Fabry disease, but this specific approach focusing on untreated patients is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patients diagnosed with Fabry disease who have/have not received enzyme replacement therapy where a clinical decision has been made to obtain a kidney biopsy, a GFR, and urinary albumin studies or where patients have previously completed clinical trials which included measures of renal function and renal biopsies. Exclusion Criteria: * Patients with serum creatinine more than 2.5 mg/dL or known to have a renal disease other than Fabry.
Where this trial is running
Minneapolis, Minnesota and 1 other locations
- University of Minnesota — Minneapolis, Minnesota, United States (Recruiting)
- Universtity of Minnesota, Department of Pediatric Nephrology — Minneapolis, Minnesota, United States (Recruiting)
Study contacts
- Principal investigator: Chet Whitley, MD — University of Minnesota
- Study coordinator: Michael Mauer, MD
- Email: mauer002@umn.edu
- Phone: 612-626-2720
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.