Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease

NCT ID: NCT06065605

Last Updated: 2023-10-04

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

40 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-09-14

Study Completion Date

2025-09-12

Brief Summary

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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

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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

1. Il-4
2. Il-6
3. IL-8
4. Il-10
5. Il-12
6. Il-18
7. MCP1
8. TGF-β1
9. IFN-γ
10. TNF-α
11. IL-1β
12. RANTES
13. BAFF
14. APRIL
15. PAI-1 Biomarkers of kidney function and proteinuria
16. B2M
17. Bikunin
18. NGAL
19. Osteopontin
20. Clusterin
21. Creatinine Acute kidney injury
22. KIM-1
23. YKL-40
24. EGF
25. CK-18 M30

Conditions

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Fabry Disease

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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Fabry patients without clinical evidence of nephropathy

No deterioration of kidney function.

No interventions assigned to this group

Fabry patients with clinical evidence of nephropathy

Deterioration of kidney function.

No interventions assigned to this group

Naïve Fabry patients

These patients have no received treatment.

No interventions assigned to this group

Healthy controls

Not diagnosed with Fabry disease.

No interventions assigned to this group

Eligibility Criteria

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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.
Minimum Eligible Age

18 Years

Maximum Eligible Age

80 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Lysosomal and Rare Disorders Research and Treatment Center, Inc.

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Lysosomal & Rare Disorders Research & Treatment Center

Rockville, Maryland, United States

Site Status RECRUITING

Lysosomal & Rare Disorders Research & Treatment Center

Fairfax, Virginia, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Ozlem Goker-Alpan, M.D.

Role: CONTACT

703-261-6220

Margarita Ivanova, Ph.D.

Role: CONTACT

703-261-6220

Facility Contacts

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Ozlem Goker-Alpan, M.D.

Role: primary

703-261-6220

Margarita Ivanova, Ph.D.

Role: backup

703-261-6220

Ozlem Goker-Alpan, M.D.

Role: primary

703-261-6220

Uyensa Beese

Role: backup

703-261-6220

Provided Documents

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Document Type: Study Protocol

View Document

Document Type: Informed Consent Form

View Document

Other Identifiers

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23-LDRTC-01

Identifier Type: -

Identifier Source: org_study_id

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