Biomarker for Alport Syndrome (BioAlport)

Overview

International, multicenter, observational, longitudinal monitoring study to identify biomarker/s for Alport syndrome and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s

Full Title of Study: “Biomarker for Alport Syndrome: An International, Multicenter, Observational, Longitudinal Protocol”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: December 31, 2022

Detailed Description

Alport syndrome (AS) is a progressive hereditary glomerular disease with the prevalence 1 in 50,000. AS is caused by pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes encoding type IV collagen α3, α4, and α5 chains, respectively. There are three modes of inheritance: X-linked Alport syndrome (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). Alport Syndrome causes progressive kidney damage. The glomeruli and other normal kidney structures such as tubules are gradually replaced by scar tissue, leading to kidney failure. Boys with Alport Syndrome, regardless of the genetic type, eventually develop kidney failure. These boys often need dialysis or transplantation during their teenage or young adult years, but kidney failure can occur as late as 40-50 years of age in some men with Alport Syndrome. Most girls with the X-linked type of Alport Syndrome do not develop kidney failure. However, as women with Alport Syndrome get older the risk of kidney failure increases. Currently, diagnosis of Alport Syndrome relies on careful evaluation of the patient's signs and symptoms, along with the family history. Hearing and vision should also be tested. The evaluation can also include a blood test, urine tests, and a kidney biopsy to determine Alport Syndrome. A genetic test is crucial to confirm the diagnosis and determine the genetic type of Alport Syndrome. There is no cure for Alport syndrome; however, symptomatic treatment can help relieve symptoms. Kidney transplantation is usually very successful in people with Alport Syndrome and is considered the best treatment when end-stage kidney failure is approaching. The aim of this study to identify biomarker/s for Alport Syndrome and to explore their clinical robustness, specificity, and long-term variability, in the attempt to offer access to earlier diagnosis and treatment monitoring.

Arms, Groups and Cohorts

  • Participants with Alport Syndrome
    • Participants diagnosed with Alport syndrome aged between 2 months and 50 years

Clinical Trial Outcome Measures

Primary Measures

  • Identification of Alport Syndrome biomarker/s
    • Time Frame: 36 months
    • All samples will be analyzed for the identification of biomarker/s via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.

Secondary Measures

  • Exploring the clinical robustness, specificity, and long-term variability of Alport syndrome biomarker/s
    • Time Frame: 36 months
    • Samples will be analyzed for the identified biomarker candidates via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.

Participating in This Clinical Trial

INCLUSION CRITERIA

  • Informed consent is obtained from the participant or the parent/ legal guardian. – The participant is aged between 2 months and 50 years – The diagnosis of Alport Syndrome is genetically confirmed by CENTOGENE EXCLUSION CRITERIA – Informed consent is not obtained from the participant or from the parent/ legal guardian – The participant is younger than 2 months or older than 50 years – The diagnosis of Alport Syndrome is not genetically confirmed by CENTOGENE

Gender Eligibility: All

Minimum Age: 2 Months

Maximum Age: 50 Years

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • CENTOGENE GmbH Rostock
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Peter Bauer, Prof. Dr., Study Chair, Centogene GmbH

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