Biomarker for Alport Syndrome (BioAlport) (BioAlport)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT02718027|
Recruitment Status : Active, not recruiting
First Posted : March 24, 2016
Last Update Posted : May 13, 2021
|Condition or disease|
|Nephritis, Hereditary Hematuria-Nephropathy-Deafness Syndrome|
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|
|Estimated Enrollment :||1000 participants|
|Official Title:||Biomarker for Alport Syndrome: An International, Multicenter, Observational, Longitudinal Protocol|
|Actual Study Start Date :||August 20, 2018|
|Estimated Primary Completion Date :||December 2023|
|Estimated Study Completion Date :||December 2023|
Participants with Alport Syndrome
Participants diagnosed with Alport syndrome aged between 2 months and 50 years
- 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.
- 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.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02718027
|University Hospital Center Mother Teresa|
|Tirana, Albania, 10001|
|Department of Molecular and Medical Genetics, Tbilisi State Medical University|
|Tbilisi, Georgia, 0177|
|Amrita Institute of Medical Sciences & Research Centre|
|Cochin, Kerala, India, 682041|
|Rare diseases coordinating centre, Vilnius University Hospital Santaros klinikos|
|Vilnius, Lithuania, 08406|
|Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health|
|Lahore, Pakistan, 54600|
|Emergency Hospital for Children "Louis Turcanu"|
|Timişoara, Romania, 300011|
|Lady Ridgeway Hospital for Children|
|Colombo, Sri Lanka, 00800|
|Study Chair:||Peter Bauer, Prof. Dr.||Centogene GmbH|