Clinical trial NCT02718027: Biomarker for Alport Syndrome (BioAlport)
Official title: Biomarker for Alport Syndrome: An International, Multicenter, Observational, Longitudinal Protocol
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Nephritis, Hereditary
Hematuria-Nephropathy-Deafness Syndrome
Keywords: Alport Syndrome
Biomarker
Lead sponsor: CENTOGENE GmbH Rostock
Sponsor class: INDUSTRY
First posted: 2016-03-24
Enrollment: 12
Sex: ALL
Minimum age (years): 2
Maximum age (years): 50
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Participants with Alport Syndrome

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.

Eligibility criteria: 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

Primary outcomes:
measure: Identification of Alport Syndrome biomarker/s
timeFrame: 36 months
Secondary outcomes:
measure: Exploring the clinical robustness, specificity, and long-term variability of Alport syndrome biomarker/s
timeFrame: 36 months
Other outcomes:
Locations:
city: Tirana
country: Albania
facility: University Hospital Center Mother Teresa
city: Tbilisi
country: Georgia
facility: Department of Molecular and Medical Genetics, Tbilisi State Medical University
city: Cochin
country: India
facility: Amrita Institute of Medical Sciences & Research Centre
state: Kerala
city: Vilnius
country: Lithuania
facility: Rare diseases coordinating centre, Vilnius University Hospital Santaros klinikos
city: Lahore
country: Pakistan
facility: Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health
city: Timişoara
country: Romania
facility: Emergency Hospital for Children "Louis Turcanu"
city: Colombo
country: Sri Lanka
facility: Lady Ridgeway Hospital for Children
Study officials:
affiliation: Centogene GmbH
name: Peter Bauer, Prof. Dr.
role: STUDY_CHAIR
References: