Nephritis, HereditaryBioAlportNCT02718027
Biomarker for Alport Syndrome (BioAlport)
An observational study of Nephritis, Hereditary and Hematuria-Nephropathy-Deafness Syndrome, run by CENTOGENE GmbH Rostock at 7 sites in 7 countries.
Trial 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 Read more about this study
- Who is it for?
- Ages 2 months to 50 years
- Conditions the study is for
- Nephritis, Hereditary, Hematuria-Nephropathy-Deafness Syndrome
- How many people
- 12 participants
- Where
- 7 sitesin 7 countries
- Study dates
- 20 Aug 2018to 31 Dec 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 months to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Participants with Alport Syndrome
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
7 sites in 7 countries.
7 sites in 7 countries
Georgia1 site
Department of Molecular and Medical Genetics, Tbilisi State Medical University
Tbilisi, 0177
India1 site
Amrita Institute of Medical Sciences & Research Centre
Kochi, Kerala, 682041
Lithuania1 site
Rare diseases coordinating centre, Vilnius University Hospital Santaros klinikos
Vilnius, 08406
Pakistan1 site
Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health
Lahore, 54600
Romania1 site
Emergency Hospital for Children "Louis Turcanu"
Timișoara, 300011
About this study
Official title: Biomarker for Alport Syndrome: An International, Multicenter, Observational, Longitudinal Protocol
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
Read the 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.
- Keywords
- Alport Syndrome, Biomarker
- Medical subject headings
- Nephritis, Hereditary
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Participants with Alport Syndrome | Participants diagnosed with Alport syndrome aged between 2 months and 50 years |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 36 months
Secondary outcomes (1)
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.
Measured: 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Mar 2016 (estimated)
- Study start20 Aug 2018
- Primary completion31 Dec 2022
- Study completion31 Dec 2022
Why it stopped: Study no longer pursued.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Nephritis, HereditaryStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 12 participants (actual)
Sponsor and investigators
- Lead sponsor
- CENTOGENE GmbH Rostock
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Peter Bauer, Prof. Dr., Study chair, Centogene GmbH
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02718027
- Sponsor's protocol ID
- BAP 06-2018
- Acronym
- BioAlport
- Status last verified
- Feb 2023
- First submitted
- 10 Nov 2015
- Last updated
- 10 Feb 2023
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 10 Feb 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Biomarker for Alport Syndrome: An International, Multicenter, Observational, Longitudinal Protocol
- ClinicalTrials.gov ID
- NCT02718027
- Acronym / sponsor ID
- BioAlport / BAP 06-2018
- Keywords
- Alport Syndrome, Biomarker
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Study no longer pursued.
- Enrolment
- 12 participants (actual)
- Lead sponsor
- CENTOGENE GmbH RostockIndustry (pharma, biotech, devices)
- Study start
- 20 Aug 2018 (actual)
- Primary completion
- 31 Dec 2022 (actual)
- Study completion
- 31 Dec 2022 (actual)
- First posted
- 24 Mar 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with Alport Syndrome | – | –Participants diagnosed with Alport syndrome aged between 2 months and 50 years |
Who may qualify
- Ages
- 2 months to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Participants with Alport Syndrome
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
1 secondary outcome
Exploring the clinical robustness, specificity, and long-term variability of Alport syndrome biomarker/s
Time frame: 36 months
Results and safety
The study was stopped early (reason given: Study no longer pursued.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Feb 2023.
- CENTOGENE is a rare disease company focused on transforming clinical, genetic, and biochemical data into medical solutions for patientsLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Peter Bauer, Prof. Dr. study chair
Centogene GmbH
7 sites in 7 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Nephritis, Hereditary and Hematuria-Nephropathy-Deafness Syndrome, run by CENTOGENE GmbH Rostock at 7 sites in 7 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 10 Feb 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in Albania, Georgia, India, Lithuania, Pakistan and 2 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: Study no longer pursued.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of Alport Syndrome biomarker/s (time frame: 36 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Feb 2023.