Fabry DiseaseNCT06065605
Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease
An observational study of Fabry Disease, run by Lysosomal and Rare Disorders Research and Treatment Center, Inc. at 2 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 80 yearsHealthy volunteers can take part
- Conditions the study is for
- Fabry Disease
- How many people
- 40 participants
- Where
- 2 sitesUnited States
- Study dates
- 14 Sep 2023to 12 Sep 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 80 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: 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.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
2 sites in 1 country.
United States2 sites, 2 recruiting
- Recruiting
Lysosomal & Rare Disorders Research & Treatment Center
Fairfax, Virginia, 22030
Ozlem Goker-Alpan, M.D., 703-261-6220, Ogoker-alpan@ldrtc.org
Uyensa Beese, 703-261-6220, ubeese@ldrtc.org
- Recruiting
Lysosomal & Rare Disorders Research & Treatment Center
Rockville, Maryland, 20853
Ozlem Goker-Alpan, M.D., 703-261-6220, Ogoker-alpan@ldrtc.org
Margarita Ivanova, Ph.D., 703-261-6220, Mivanova@ldrtc.org
About this study
Official title: Pilot Study to Assess Clinical and Pivotal Biomarkers in the Urine to Predict the Progression of Nephropathy in Fabry Disease
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.
Read the detailed description
This is a study to assess the markers related to autophagy, apoptosis, pyroptosis, and inflammatory markers related to NFkB, TNF-alpha, and TGF-β1 pathways in the urine. Urinary biomarkers will then be compared to the standard measures of kidney function and proteinuria: GFR, cystatin-C, B2M, bikunin, NGAL. Gb3 and Lyso-Gb3, urine microalbumin, and urine protein-to-creatinine (UPCR) ratio. Investigators will also analyze the role of therapy, especially for the inflammatory responses in participants on stable enzyme replacement therapy (ERT) with that of patients naïve to therapy.
There will be a total of 25 biomarkers that will be assessed during the study. Biomarkers of inflammation
- Il-4
- Il-6
- IL-8
- Il-10
- Il-12
- Il-18
- MCP1
- TGF-β1
- IFN-γ
- TNF-α
- IL-1β
- RANTES
- BAFF
- APRIL
- PAI-1 Biomarkers of kidney function and proteinuria
- B2M
- Bikunin
- NGAL
- Osteopontin
- Clusterin
- Creatinine Acute kidney injury
- KIM-1
- YKL-40
- EGF
- CK-18 M30
- Conditions
- Fabry Disease
- Keywords
- Urine collection, biomarkers, CKD, Early detection
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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
B2M, GFR, albumin, cystatin C, osteopontin, clusterin, creatinine, EGF, NGAL, KIM-1, alpha-1-microglobulin, bikunin, YKL-40, CK-18 M30.
Measured: through study completion, an average of 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Oct 2023
- Study start14 Sep 2023
- Primary completion12 Jul 2025 (estimated)
- Study completion12 Sep 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06065605
- Sponsor's protocol ID
- 23-LDRTC-01
- Status last verified
- Sep 2023
- First submitted
- 11 Sep 2023
- Last updated
- 4 Oct 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Oct 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pilot Study to Assess Clinical and Pivotal Biomarkers in the Urine to Predict the Progression of Nephropathy in Fabry Disease
- ClinicalTrials.gov ID
- NCT06065605
- Acronym / sponsor ID
- 23-LDRTC-01
- Conditions
- Fabry Disease
- Keywords
- Urine collection, biomarkers, CKD, Early detection
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.University, hospital or other
- Study start
- 14 Sep 2023 (actual)
- Primary completion
- 12 Jul 2025 (estimated)
- Study completion
- 12 Sep 2025 (estimated)
- First posted
- 4 Oct 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
This is a study to assess the markers related to autophagy, apoptosis, pyroptosis, and inflammatory markers related to NFkB, TNF-alpha, and TGF-β1 pathways in the urine. Urinary biomarkers will then be compared to the standard measures of kidney function and proteinuria: GFR, cystatin-C, B2M, bikunin, NGAL. Gb3 and Lyso-Gb3, urine microalbumin, and urine protein-to-creatinine (UPCR) ratio. Investigators will also analyze the role of therapy, especially for the inflammatory responses in participants on stable enzyme replacement therapy (ERT) with that of patients naïve to therapy.
There will be a total of 25 biomarkers that will be assessed during the study. Biomarkers of inflammation
- Il-4
- Il-6
- IL-8
- Il-10
- Il-12
- Il-18
- MCP1
- TGF-β1
- IFN-γ
- TNF-α
- IL-1β
- RANTES
- BAFF
- APRIL
- PAI-1 Biomarkers of kidney function and proteinuria
- B2M
- Bikunin
- NGAL
- Osteopontin
- Clusterin
- Creatinine Acute kidney injury
- KIM-1
- YKL-40
- EGF
- CK-18 M30
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- 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.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
identify urinary inflammatory biomarkers associated with nephropathy in Fabry disease, Units pg/ml
Time frame: through study completion, an average of 2 years
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.
1 secondary outcome
Identify biomarkers of renal glomerular function, tubular injury and endothelial dysfunction. Units pg/ml
Time frame: through study completion, an average of 2 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Oct 2023.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by Lysosomal and Rare Disorders Research and Treatment Center, Inc. at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 4 Oct 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Ozlem Goker-Alpan, M.D. (703-261-6220, Ogoker-alpan@ldrtc.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
identify urinary inflammatory biomarkers associated with nephropathy in Fabry disease, Units pg/ml (time frame: through study completion, an average of 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Oct 2023; AzTrials last refreshed its copy on 7 Nov 2026.