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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
Sponsor:
Information provided by (Responsible Party):
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

Condition or disease
Nephritis, Hereditary Hematuria-Nephropathy-Deafness Syndrome

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.

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
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

Resource links provided by the National Library of Medicine


Group/Cohort
Participants with Alport Syndrome
Participants diagnosed with Alport syndrome aged between 2 months and 50 years



Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. 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
Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)


Information from the National Library of Medicine

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Ages Eligible for Study:   2 Months to 50 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Participants with Alport Syndrome
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

Information from the National Library of Medicine

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


Locations
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Albania
University Hospital Center Mother Teresa
Tirana, Albania, 10001
Georgia
Department of Molecular and Medical Genetics, Tbilisi State Medical University
Tbilisi, Georgia, 0177
India
Amrita Institute of Medical Sciences & Research Centre
Cochin, Kerala, India, 682041
Lithuania
Rare diseases coordinating centre, Vilnius University Hospital Santaros klinikos
Vilnius, Lithuania, 08406
Pakistan
Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health
Lahore, Pakistan, 54600
Romania
Emergency Hospital for Children "Louis Turcanu"
Timişoara, Romania, 300011
Sri Lanka
Lady Ridgeway Hospital for Children
Colombo, Sri Lanka, 00800
Sponsors and Collaborators
CENTOGENE GmbH Rostock
Investigators
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Study Chair: Peter Bauer, Prof. Dr. Centogene GmbH
Additional Information:
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Responsible Party: CENTOGENE GmbH Rostock
ClinicalTrials.gov Identifier: NCT02718027    
Other Study ID Numbers: BAP 06-2018
First Posted: March 24, 2016    Key Record Dates
Last Update Posted: May 13, 2021
Last Verified: May 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by CENTOGENE GmbH Rostock:
Alport Syndrome
Biomarker
Additional relevant MeSH terms:
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Deafness
Nephritis
Hematuria
Nephritis, Hereditary
Syndrome
Disease
Pathologic Processes
Kidney Diseases
Urologic Diseases
Hearing Loss
Hearing Disorders
Ear Diseases
Otorhinolaryngologic Diseases
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Urination Disorders
Hemorrhage
Urogenital Abnormalities
Congenital Abnormalities
Collagen Diseases
Connective Tissue Diseases