Biomarker for Alport Syndrome (BioAlport)

Terminated

• Conditions: Nephritis, Hereditary; Hematuria-Nephropathy-Deafness Syndrome

• Registration Number: NCT02718027
• Lead Sponsor: CENTOGENE GmbH Rostock

Brief Summary

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

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 Timeline

• Study First Submitted: 2015-11-10
• Study First Submitted QC: 2016-03-18
• Study First Posted: 2016-03-24
• Study Start: 2018-08-20
• Primary Completion: 2022-12-31
• Study Completion: 2022-12-31
• Status Verified: 2023-02
• Last Update Submitted: 2023-02-08
• Last Update Posted: 2023-02-10

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 12

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Identification of Alport Syndrome biomarker/s	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 Outcome Measures

Name	Time	Method
Exploring the clinical robustness, specificity, and long-term variability of Alport syndrome biomarker/s	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.

Trial Locations

Locations (7)

Lady Ridgeway Hospital for Children; 🇱🇰 Colombo, Sri Lanka

University Hospital Center Mother Teresa; 🇦🇱 Tirana, Albania

Amrita Institute of Medical Sciences & Research Centre; 🇮🇳 Cochin, Kerala, India

Department of Molecular and Medical Genetics, Tbilisi State Medical University; 🇬🇪 Tbilisi, Georgia

Rare diseases coordinating centre, Vilnius University Hospital Santaros klinikos; 🇱🇹 Vilnius, Lithuania

Emergency Hospital for Children "Louis Turcanu"; 🇷🇴 Timişoara, Romania

Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health; 🇵🇰 Lahore, Pakistan