Fabry DiseaseVIEPAFNCT00871611
Viennese Prevalence Study of Anderson-Fabry Disease
An observational study of Fabry Disease and Left Ventricular Hypertrophy, run by Medical University of Vienna at 1 site in Austria.
Trial summary
The prevalence of Anderson - Fabry disease in patients with left ventricular hypertrophy is unclear. The investigators will examine urine - α - Galactosidase activity and globotriaosylceramide isoforms in these patients. Read more about this study
- Who is it for?
- Ages 18 to 90 years
- Conditions the study is for
- Fabry Disease, Left Ventricular Hypertrophy
- How many people
- 4,000 participants
- Where
- 1 siteAustria
- Study dates
- Jan 2009to Jan 2012
- 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 18 to 90 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients with left ventricular hypertrophy diagnosed by echocardiography
Who may be able to join
- Patients with myocardial septum wall thickness ≥ 12mm
Who cannot join
- Patients < 18 years
- Patients unable to provide urine sample
Trial locations and contacts
1 site in 1 country.
Austria1 site
Department of Internal Medicine II, Div. Cardiology, Vienna General Hospital
Vienna, 1090
About this study
Official title: Prevalence of Anderson - Fabry Disease in Patients With Left Ventricular Hypertrophy
The prevalence of Anderson - Fabry disease in patients with left ventricular hypertrophy is unclear. The investigators will examine urine - α - Galactosidase activity and globotriaosylceramide isoforms in these patients.
Read the detailed description
Anderson - Fabry disease (AFD) is a rare, X - linked hereditary systemic lysosomal storage disorder which usually affects the heart. The reported incidence of AFD is between 1 in 117000 and 1 in 240000 live births. Due to a deficiency of the enzyme α - galactosidase, glycosphingo-lipids, primarily globotriaosylceramide, are stored also in endothelial and myocardial cells, leading to morphologic and functional changes. AFD-cardiomyopathy progresses with age and with the course of the disease, leading to reduced life expectancy. The investigators hypothesize, that AFD could be underdiagnosed in patients with only mild or moderate left ventricular myocardial hypertrophy. Early diagnosis of AFD may be relevant since affected patients might benefit from enzyme replacement therapy at early stage of disease. The investigators will examine 4000 consecutive patients with an echocardiographically measured interventricular septum thickness of ≥ 12mm. Urine samples will be collected and Gb3-isoforms, creatinine and α - Galactosidase activity will be measured.
- Conditions
- Fabry Disease, Left Ventricular Hypertrophy
- Keywords
- Hereditary, Anderson-Fabry, prevalence, heart, hypertrophy, urine, globotriaosylceramide, isoforms, α - Galactosidase
- Medical subject headings
- Fabry Disease, Hypertrophy, Left Ventricular, Hypertrophy
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of Anderson - Fabry disease
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Mar 2009 (estimated)
- Study startJan 2009
- Primary completionJan 2012 (estimated)
- Study completionJan 2012 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- More trials run by Medical University of ViennaThe sponsor's other registered studies.
- 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
- 4,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Medical University of Vienna
- Sponsor type
- University, hospital or other
- Collaborators
- Medical University of Graz
- Investigators
- Gerald Mundigler, MD, Principal investigator, Medical University of Vienna, Dept. Internal Medicine, Cardiology
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00871611
- Sponsor's protocol ID
- VIE190109
- Acronym
- VIEPAF
- Status last verified
- Jul 2011
- First submitted
- 27 Mar 2009
- Last updated
- 28 Jul 2011
- Results posted
- No
- Data monitoring committee
- No
Publications
Weidemann F, Breunig F. [Cardiac involvement in Fabry's disease]. Med Klin (Munich). 2008 Mar 15;103(3):161-5. doi: 10.1007/s00063-008-1023-1. German.
PubMed 18344066Linhart A, Kampmann C, Zamorano JL, Sunder-Plassmann G, Beck M, Mehta A, Elliott PM; European FOS Investigators. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J. 2007 May;28(10):1228-35. doi: 10.1093/eurheartj/ehm153. Epub 2007 May 5.
PubMed 17483538Monserrat L, Gimeno-Blanes JR, Marin F, Hermida-Prieto M, Garcia-Honrubia A, Perez I, Fernandez X, de Nicolas R, de la Morena G, Paya E, Yague J, Egido J. Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2007 Dec 18;50(25):2399-403. doi: 10.1016/j.jacc.2007.06.062.
PubMed 18154965Fauler G, Rechberger GN, Devrnja D, Erwa W, Plecko B, Kotanko P, Breunig F, Paschke E. Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard. Rapid Commun Mass Spectrom. 2005;19(11):1499-506. doi: 10.1002/rcm.1948.
PubMed 15880667
Study at a glance
From the registry record, last updated by the sponsor on 28 Jul 2011. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prevalence of Anderson - Fabry Disease in Patients With Left Ventricular Hypertrophy
- ClinicalTrials.gov ID
- NCT00871611
- Acronym / sponsor ID
- VIEPAF / VIE190109
- Conditions
- Fabry Disease, Left Ventricular Hypertrophy
- Keywords
- Hereditary, Anderson-Fabry, prevalence, heart, hypertrophy, urine, globotriaosylceramide, isoforms
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 4,000 participants (estimated)
- Lead sponsor
- Medical University of ViennaUniversity, hospital or other
- Collaborators
- Medical University of Graz
- Study start
- Jan 2009
- Primary completion
- Jan 2012 (estimated)
- Study completion
- Jan 2012 (estimated)
- First posted
- 30 Mar 2009 (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.
The prevalence of Anderson - Fabry disease in patients with left ventricular hypertrophy is unclear. The investigators will examine urine - α - Galactosidase activity and globotriaosylceramide isoforms in these patients.
Detailed description
Anderson - Fabry disease (AFD) is a rare, X - linked hereditary systemic lysosomal storage disorder which usually affects the heart. The reported incidence of AFD is between 1 in 117000 and 1 in 240000 live births. Due to a deficiency of the enzyme α - galactosidase, glycosphingo-lipids, primarily globotriaosylceramide, are stored also in endothelial and myocardial cells, leading to morphologic and functional changes. AFD-cardiomyopathy progresses with age and with the course of the disease, leading to reduced life expectancy. The investigators hypothesize, that AFD could be underdiagnosed in patients with only mild or moderate left ventricular myocardial hypertrophy. Early diagnosis of AFD may be relevant since affected patients might benefit from enzyme replacement therapy at early stage of disease. The investigators will examine 4000 consecutive patients with an echocardiographically measured interventricular septum thickness of ≥ 12mm. Urine samples will be collected and Gb3-isoforms, creatinine and α - Galactosidase activity will be measured.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 to 90 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with left ventricular hypertrophy diagnosed by echocardiography
Key inclusion criteria (1 listed)
- Patients with myocardial septum wall thickness ≥ 12mm
Key exclusion criteria (2 listed)
- Patients < 18 years
- Patients unable to provide urine sample
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
Prevalence of Anderson - Fabry disease
Time frame: 2 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Jul 2011.
- Background: PubMed 18344066Weidemann F, Breunig F. [Cardiac involvement in Fabry's disease]. Med Klin (Munich). 2008 Mar 15;103(3):161-5. doi: 10.1007/s00063-008-1023-1. German.
- Background: PubMed 17483538Linhart A, Kampmann C, Zamorano JL, Sunder-Plassmann G, Beck M, Mehta A, Elliott PM; European FOS Investigators. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J. 2007 May;28(10):1228-35. doi: 10.1093/eurheartj/ehm153. Epub 2007 May 5.
- Background: PubMed 18154965Monserrat L, Gimeno-Blanes JR, Marin F, Hermida-Prieto M, Garcia-Honrubia A, Perez I, Fernandez X, de Nicolas R, de la Morena G, Paya E, Yague J, Egido J. Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2007 Dec 18;50(25):2399-403. doi: 10.1016/j.jacc.2007.06.062.
- Background: PubMed 15880667Fauler G, Rechberger GN, Devrnja D, Erwa W, Plecko B, Kotanko P, Breunig F, Paschke E. Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard. Rapid Commun Mass Spectrom. 2005;19(11):1499-506. doi: 10.1002/rcm.1948.
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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.
Gerald Mundigler, MD principal investigator
Medical University of Vienna, Dept. Internal Medicine, Cardiology
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease and Left Ventricular Hypertrophy, run by Medical University of Vienna at 1 site in Austria.
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 1 inclusion and 2 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: status not confirmed, as of the sponsor's last update on 28 Jul 2011. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Austria. 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?
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?
Prevalence of Anderson - Fabry disease (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00871611, which also lists 4 linked publications.
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 28 Jul 2011.