AngiokeratomasBioFabryNCT02778295
Biomarker for Patients With Fabry Disease (BioFabry)
An observational study of Angiokeratomas and Chronic Kidney Disease, run by CENTOGENE GmbH Rostock at 3 sites in 3 countries.
Trial summary
Development of a new mass spectrography-based biomarker for the early and sensitive diagnosis of Fabry disease from the blood Read more about this study
- Who is it for?
- Ages 2 months and older
- Conditions the study is for
- Angiokeratomas, Chronic Kidney Disease, Ocular Abnormalities
- How many people
- 0 participants
- Where
- 3 sitesin 3 countries
- Study dates
- 20 Aug 2018to 28 Feb 2021
- 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 and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with Fabry disease or high-grade suspicion for Fabry disease
Who may be able to join
- Informed consent will be obtained from the patient or the parents before any study related procedures.
- Patients of both genders older than 2 months
- The patient has a diagnosis of Fabry disease or a high-grade suspicion for Fabry disease
- High-grade suspicion present, if one or more inclusion criteria are valid:
- Positive family anamnesis for Fabry disease
- Pin and burning in the hands and feet
Show all 10Show fewer
- Angiokeratomas
- Gastrointestinal problems
- Heart problems
- Kidney problems
Who cannot join
- No Informed consent from the patient or the parents before any study related procedures.
- Patients of both gender younger than 2 months
- No diagnosis of Fabry disease or no valid criteria for profound suspicion of Fabry disease
Trial locations and contacts
3 sites in 3 countries.
3 sites in 3 countries
India1 site
NIRMAN-University of Mumbai-Institute of Research in Mental and Neurological handicap
Mumbai, 400705
About this study
Official title: Biomarker for Fabry Disease: BioFabry AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
Development of a new mass spectrography-based biomarker for the early and sensitive diagnosis of Fabry disease from the blood
Read the detailed description
Fabry disease is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
Annual incidence is reported to be 1 in 80,000 live births but this figure may underestimate disease prevalence. When late-onset variants of the disease are considered, a prevalence of approximately 1 in 3,000 has been suggested. Fabry disease is pan-ethnic.
Fabry disease is a disorder of glycosphingolipid metabolism caused by deficient or absent lysosomal alpha-galactosidase A activity related to mutations in the GLA gene (Xq21.3-q22) encoding the alpha-galactosidase A enzyme. Deficient activity results in accumulation of globotriaosylceramide (Gb3) within lysosomes, believed to trigger a cascade of cellular events.
Fabry disease is transmitted as an X-linked trait. The existence of atypical, late-onset, variants and the availability of specific therapy complicate genetic counseling.
The clinical picture covers a wide spectrum ranging from mild cases in heterozygous females, to severe cases in classically affected hemizygous males with no residual alpha-galactosidase A activity. These patients may have all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular (hearing loss and vertigo) and cerebrovascular (transient ischemic attacks, strokes) symptoms of the disease.
Female patients may have very mild to severe symptoms. Pain is a common early symptom of Fabry disease (chronic pain characterized by burning and tingling paresthesia and occasional episodic crises characterized by agonizing burning pain). Pain may resolve in adulthood.
Anhidrosis or hypohidrosis may occur causing heat and exercise intolerance. Other signs include corneal changes ("cornea verticilata"), Definitive laboratory diagnosis involves demonstration of marked enzyme deficiency in hemizygous males. Enzyme analysis may occasionally help to detect heterozygotes but is often inconclusive due to random X-chromosomal inactivation, making molecular testing (genotyping) of females mandatory.
With age, progressive damage to vital organ systems develops, possibly leading to organ failure. End-stage renal disease and life-threatening cardiovascular or cerebrovascular complications limit the life-expectancy .
New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.
Therefore it is the goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.
- Keywords
- Fabry Disease, Biomarker
- Medical subject headings
- Angiokeratoma, Renal Insufficiency, Chronic, Hearing Loss, Fabry Disease
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 |
|---|---|---|
| Observation | Patients with Fabry disease or high-grade suspicion for Fabry disease |
What is being measured
The primary outcome is the main question the study is designed to answer.
Sequencing of the Fabry disease related gene
Next-Generation Sequencing (NGS) of the GLA gene will be performed. The mutation will be confirmed by Sanger sequencing.
Measured: 4 weeks
Secondary outcomes (1)
The Fabry disease specific biomarker candidates finding
The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 May 2016 (estimated)
- Study start20 Aug 2018
- Primary completion28 Feb 2021
- Study completion28 Feb 2021
Why it stopped: Transition into BioMetabol
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for AngiokeratomasStudies 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
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- CENTOGENE GmbH Rostock
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Peter Bauer, Prof., Study chair, Centogene GmbH
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02778295
- Sponsor's protocol ID
- BFA 06-2018
- Acronym
- BioFabry
- Status last verified
- Feb 2023
- First submitted
- 18 May 2016
- Last updated
- 13 Feb 2023
- Results posted
- No
- Data monitoring committee
- No
- 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 13 Feb 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Biomarker for Fabry Disease: BioFabry AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
- ClinicalTrials.gov ID
- NCT02778295
- Acronym / sponsor ID
- BioFabry / BFA 06-2018
- Keywords
- Fabry Disease, Biomarker
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: Transition into BioMetabol
- Enrolment
- 0 participants (actual)
- Lead sponsor
- CENTOGENE GmbH RostockIndustry (pharma, biotech, devices)
- Study start
- 20 Aug 2018 (actual)
- Primary completion
- 28 Feb 2021 (actual)
- Study completion
- 28 Feb 2021 (actual)
- First posted
- 19 May 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.
Development of a new mass spectrography-based biomarker for the early and sensitive diagnosis of Fabry disease from the blood
Detailed description
Fabry disease is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
Annual incidence is reported to be 1 in 80,000 live births but this figure may underestimate disease prevalence. When late-onset variants of the disease are considered, a prevalence of approximately 1 in 3,000 has been suggested. Fabry disease is pan-ethnic.
Fabry disease is a disorder of glycosphingolipid metabolism caused by deficient or absent lysosomal alpha-galactosidase A activity related to mutations in the GLA gene (Xq21.3-q22) encoding the alpha-galactosidase A enzyme. Deficient activity results in accumulation of globotriaosylceramide (Gb3) within lysosomes, believed to trigger a cascade of cellular events.
Fabry disease is transmitted as an X-linked trait. The existence of atypical, late-onset, variants and the availability of specific therapy complicate genetic counseling.
The clinical picture covers a wide spectrum ranging from mild cases in heterozygous females, to severe cases in classically affected hemizygous males with no residual alpha-galactosidase A activity. These patients may have all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular (hearing loss and vertigo) and cerebrovascular (transient ischemic attacks, strokes) symptoms of the disease.
Female patients may have very mild to severe symptoms. Pain is a common early symptom of Fabry disease (chronic pain characterized by burning and tingling paresthesia and occasional episodic crises characterized by agonizing burning pain). Pain may resolve in adulthood.
Anhidrosis or hypohidrosis may occur causing heat and exercise intolerance. Other signs include corneal changes ("cornea verticilata"), Definitive laboratory diagnosis involves demonstration of marked enzyme deficiency in hemizygous males. Enzyme analysis may occasionally help to detect heterozygotes but is often inconclusive due to random X-chromosomal inactivation, making molecular testing (genotyping) of females mandatory.
With age, progressive damage to vital organ systems develops, possibly leading to organ failure. End-stage renal disease and life-threatening cardiovascular or cerebrovascular complications limit the life-expectancy .
New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.
Therefore it is the goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Observation | – | –Patients with Fabry disease or high-grade suspicion for Fabry disease |
Who may qualify
- Ages
- 2 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with Fabry disease or high-grade suspicion for Fabry disease
Key inclusion criteria (10 listed)
- Informed consent will be obtained from the patient or the parents before any study related procedures.
- Patients of both genders older than 2 months
- The patient has a diagnosis of Fabry disease or a high-grade suspicion for Fabry disease
- High-grade suspicion present, if one or more inclusion criteria are valid:
Key exclusion criteria (3 listed)
- No Informed consent from the patient or the parents before any study related procedures.
- Patients of both gender younger than 2 months
- No diagnosis of Fabry disease or no valid criteria for profound suspicion of Fabry disease
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
Sequencing of the Fabry disease related gene
Time frame: 4 weeks
Next-Generation Sequencing (NGS) of the GLA gene will be performed. The mutation will be confirmed by Sanger sequencing.
1 secondary outcome
The Fabry disease specific biomarker candidates finding
Time frame: 24 months
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Feb 2023.
- Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.Link provided by the sponsor.
- Individual participant dataSharing planned: Undecided
Related trials for Angiokeratomas
RecruitingObservational study
Fabry Disease Registry & Pregnancy Sub-registry
Fabry Disease
RecruitingPhase 2
A Phase 2, Baseline-Controlled Study Evaluating the Safety and Efficacy of PTX-022 (Sirolimus) Topical Gel 3.9% in the Treatment of Angiokeratomas (LOTU)
Angiokeratomas
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. study chair
Centogene GmbH
3 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Angiokeratomas and Chronic Kidney Disease, run by CENTOGENE GmbH Rostock at 3 sites in 3 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 10 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: withdrawn, as of the sponsor's last update on 13 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 3 sites in Germany, India, Sri Lanka. 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 withdrawn before enrolling participants, so there are no results.
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?
Sequencing of the Fabry disease related gene (time frame: 4 weeks). 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 13 Feb 2023.