An observational study in Nephritis, Hereditary and Hematuria-Nephropathy-Deafness Syndrome, sponsored by CENTOGENE GmbH Rostock. Terminated at 7 sites in 7 countries. Open to participants aged 2 Months to 50 Years. Per ClinicalTrials.gov, last updated 2023-02-10.
Sponsored by CENTOGENE GmbH Rostock · Observational
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
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.
38 studies on the registry are indexed under Nephritis, Hereditary; 14 are open to participants now.
This study's enrollment of 12 is below the median of 655 across 17 observational studies indexed under Nephritis, Hereditary.
Browse Nephritis, Hereditary studies →CENTOGENE GmbH Rostock is the lead sponsor of 57 studies on the registry; none are open to participants now.
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Participants with Alport Syndrome
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
EXCLUSION CRITERIA
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Participants diagnosed with Alport syndrome aged between 2 months and 50 years
Identification of Alport Syndrome biomarker/s
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.
Time frame: 36 months
Exploring the clinical robustness, specificity, and long-term variability of Alport syndrome biomarker/s
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.
Time frame: 36 months
Plan to share: Undecided
This study is terminated, as verified in Feb 2023. You cannot join it, but the record below documents what was studied.
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