Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease
Pilot Study to Assess Clinical and Pivotal Biomarkers in the Urine to Predict the Progression of Nephropathy in Fabry Disease
1 other identifier
observational
40
1 country
2
Brief Summary
The purpose of this research is to collect biological samples (urine) to develop assays for immune biomarkers to possibly in the future be able to screen subjects with Fabry disease and be able to understand better progression of nephropathy in Fabry disease and predict nephropathy in Fabry disease.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Sep 2023
2 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
September 11, 2023
CompletedStudy Start
First participant enrolled
September 14, 2023
CompletedFirst Posted
Study publicly available on registry
October 4, 2023
CompletedPrimary Completion
Last participant's last visit for primary outcome
July 12, 2025
CompletedStudy Completion
Last participant's last visit for all outcomes
September 12, 2025
CompletedOctober 4, 2023
September 1, 2023
1.8 years
September 11, 2023
September 29, 2023
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
identify urinary inflammatory biomarkers associated with nephropathy in Fabry disease, Units pg/ml
IL-1β, TNF-α, IL-6, Il-4, IL-8, Il-10, Il-12, Il-18, MCP1, RANTES, BAFF, APRIL, TGF-β1, INF-gamma, and PAI-1will be measured in urine.
through study completion, an average of 2 years
Secondary Outcomes (1)
Identify biomarkers of renal glomerular function, tubular injury and endothelial dysfunction. Units pg/ml
through study completion, an average of 2 years
Study Arms (4)
Fabry patients without clinical evidence of nephropathy
No deterioration of kidney function.
Fabry patients with clinical evidence of nephropathy
Deterioration of kidney function.
Naïve Fabry patients
These patients have no received treatment.
Healthy controls
Not diagnosed with Fabry disease.
Eligibility Criteria
There is no particular study population being investigated. Only patient with Fabry disease and healthy controls from across the world will be enrolled in the study.
You may qualify if:
- 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.
You may not qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (2)
Lysosomal & Rare Disorders Research & Treatment Center
Rockville, Maryland, 20853, United States
Lysosomal & Rare Disorders Research & Treatment Center
Fairfax, Virginia, 22030, United States
Biospecimen
Urine sample.
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE CONTROL
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
September 11, 2023
First Posted
October 4, 2023
Study Start
September 14, 2023
Primary Completion
July 12, 2025
Study Completion
September 12, 2025
Last Updated
October 4, 2023
Record last verified: 2023-09
Data Sharing
- IPD Sharing
- Will not share