Biomarker for Alport Syndrome (BioAlport) (BioAlport)

February 8, 2023 updated by: CENTOGENE GmbH Rostock

Biomarker for Alport Syndrome: An International, Multicenter, Observational, Longitudinal Protocol

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

Study Overview

Status

Terminated

Conditions

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.

Study Type

Observational

Enrollment (Actual)

12

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Albania
      • Tirana, Albania, 10001
        • University Hospital Center Mother Teresa
  • Georgia
      • Tbilisi, Georgia, 0177
        • Department of Molecular and Medical Genetics, Tbilisi State Medical University
  • India
    • Kerala
      • Cochin, Kerala, India, 682041
        • Amrita Institute Of Medical Sciences & Research Centre
  • Lithuania
      • Vilnius, Lithuania, 08406
        • Rare diseases coordinating centre, Vilnius University Hospital Santaros klinikos
  • Pakistan
      • Lahore, Pakistan, 54600
        • Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health
  • Romania
      • Timişoara, Romania, 300011
        • Emergency Hospital for Children "Louis Turcanu"
  • Sri Lanka
      • Colombo, Sri Lanka, 00800
        • Lady Ridgeway Hospital for Children

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 months to 50 years (ADULT, CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Participants with Alport Syndrome

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Participants with Alport Syndrome
Participants diagnosed with Alport syndrome aged between 2 months and 50 years

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
36 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
36 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

CENTOGENE GmbH Rostock

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

August 20, 2018

Primary Completion (ACTUAL)

December 31, 2022

Study Completion (ACTUAL)

December 31, 2022

Study Registration Dates

First Submitted

November 10, 2015

First Submitted That Met QC Criteria

March 18, 2016

First Posted (ESTIMATE)

March 24, 2016

Study Record Updates

Last Update Posted (ACTUAL)

February 10, 2023

Last Update Submitted That Met QC Criteria

February 8, 2023

Last Verified

February 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • BAP 06-2018

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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