Assess urine biomarkers to predict kidney issues in Fabry disease
Pilot Study to Assess Clinical and Pivotal Biomarkers in the Urine to Predict the Progression of Nephropathy in Fabry Disease
This study is testing if certain substances in urine can help predict kidney problems in people with Fabry disease.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 40 (estimated) |
| Ages | 18 Years to 80 Years |
| Sex | All |
| Sponsor | Lysosomal and Rare Disorders Research and Treatment Center, Inc. Academic / other |
| Locations | 2 sites (Rockville, Maryland and 1 other locations) |
| Trial ID | NCT06065605 on ClinicalTrials.gov |
What this trial studies
This observational study aims to collect urine samples from individuals diagnosed with Fabry disease to identify and analyze biomarkers related to kidney function and inflammation. The research will focus on 25 specific biomarkers associated with autophagy, apoptosis, and inflammatory pathways, comparing these to standard kidney function measures. The goal is to develop assays that could help in early detection and understanding of nephropathy progression in Fabry disease. Participants will include those on enzyme replacement therapy and those who are therapy-naïve.
Who should consider this trial
Good fit: Ideal candidates are adults aged 18 to 80 with a confirmed diagnosis of Fabry disease.
Not a fit: Patients with other genetic conditions associated with chronic kidney disease or those with chronic infections may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved early detection and monitoring of kidney complications in patients with Fabry disease.
How similar studies have performed: While this approach is innovative, similar studies assessing biomarkers for kidney disease have shown promise in other conditions, suggesting potential for success.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Male and Female subject is greater than 18 but not older than 80 years. * Subject willing to sign the informed consent and/or assent. * Confirmed diagnosis of Fabry disease based on deficient α-Gal A enzymatic activity and molecular analysis demonstrating pathogenic variants in the GLA gene. Exclusion Criteria: * Any other known genetic condition associated with CKD. * Evidence of hepatitis B or C infections or other chronic infectious diseases, * Pregnancy or breastfeeding. * Any other chronic condition, as per PI's discretion, that makes the subject ineligible.
Where this trial is running
Rockville, Maryland and 1 other locations
- Lysosomal & Rare Disorders Research & Treatment Center — Rockville, Maryland, United States (Recruiting)
- Lysosomal & Rare Disorders Research & Treatment Center — Fairfax, Virginia, United States (Recruiting)
Study contacts
- Study coordinator: Ozlem Goker-Alpan, M.D.
- Email: Ogoker-alpan@ldrtc.org
- Phone: 703-261-6220
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.