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Biomarker for Alport Syndrome (BioAlport) (BioAlport)

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ClinicalTrials.gov Identifier: NCT02718027
Recruitment Status : Active, not recruiting
First Posted : March 24, 2016
Last Update Posted : May 13, 2021
Sponsor:
Information provided by (Responsible Party):
CENTOGENE GmbH Rostock

Tracking Information
First Submitted Date November 10, 2015
First Posted Date March 24, 2016
Last Update Posted Date May 13, 2021
Actual Study Start Date August 20, 2018
Estimated Primary Completion Date December 2023   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: April 8, 2020)
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.
Original Primary Outcome Measures
 (submitted: March 18, 2016)
Development of a new MS-based biomarker for the early diagnosis of Alport disease from plasma [ Time Frame: 24 months ]
Change History
Current Secondary Outcome Measures
 (submitted: April 8, 2020)
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.
Original Secondary Outcome Measures
 (submitted: March 18, 2016)
Number of correctly identified patients with Alport disease [ Time Frame: 24 month ]
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Biomarker for Alport Syndrome (BioAlport)
Official Title Biomarker for Alport Syndrome: An International, Multicenter, Observational, Longitudinal Protocol
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 Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)
Sampling Method Probability Sample
Study Population Participants with Alport Syndrome
Condition
  • Nephritis, Hereditary
  • Hematuria-Nephropathy-Deafness Syndrome
Intervention Not Provided
Study Groups/Cohorts Participants with Alport Syndrome
Participants diagnosed with Alport syndrome aged between 2 months and 50 years
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Active, not recruiting
Estimated Enrollment
 (submitted: August 24, 2018)
1000
Original Estimated Enrollment
 (submitted: March 18, 2016)
50
Estimated Study Completion Date December 2023
Estimated Primary Completion Date December 2023   (Final data collection date for primary outcome measure)
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
Sex/Gender
Sexes Eligible for Study: All
Ages 2 Months to 50 Years   (Child, Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Albania,   Georgia,   India,   Lithuania,   Pakistan,   Romania,   Sri Lanka
Removed Location Countries Egypt,   Germany
 
Administrative Information
NCT Number NCT02718027
Other Study ID Numbers BAP 06-2018
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Undecided
Responsible Party CENTOGENE GmbH Rostock
Study Sponsor CENTOGENE GmbH Rostock
Collaborators Not Provided
Investigators
Study Chair: Peter Bauer, Prof. Dr. Centogene GmbH
PRS Account CENTOGENE GmbH Rostock
Verification Date May 2021