Focus of Study: Prevalence of Fabry Disease in CKD PopulationNCT00728364
Anderson-Fabry Disease in Chronic Kidney Disease Patients Not on Renal Replacement Therapy
An observational study of Focus of Study: Prevalence of Fabry Disease in CKD Population, run by Klinikum Wels-Grieskirchen at 1 site in Austria.
Trial summary
Anderson-Fabry disease is a rare X-linked lysosomal storage disorder due to the deficiency of alfa-galactosidase A (AGAL). The subsequent accumulation of glycosphingolipids may lead to to cardiac, renal, and central nervous system impairment as well as premature death. Read more about this study
- Who is it for?
- Ages 18 to 85 years
- Conditions the study is for
- Focus of Study: Prevalence of Fabry Disease in CKD Population
- How many people
- 4,353 participants
- Where
- 1 siteAustria
- Study dates
- Oct 2008to Dec 2011
- 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 85 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients with chronic kidney disease KDOQI stage 1-5 attending outpatient nephrology clinics in Austria and willing to participate
Who may be able to join
- Chronic kidney disease KDOQI stage 1-5
- Informed consent
Who cannot join
- Patients already on renal replacement therapy
- Not willing to participate
Trial locations and contacts
1 site in 1 country.
About this study
Official title: A Case Finding Study for Anderson-Fabry Disease Among Patients With Chronic Kidney Disease Not on Renal Replacement Therapy
Anderson-Fabry disease is a rare X-linked lysosomal storage disorder due to the deficiency of alfa-galactosidase A (AGAL). The subsequent accumulation of glycosphingolipids may lead to to cardiac, renal, and central nervous system impairment as well as premature death. Recently published studies suggest that the true incidence of the disease may be underestimated in certain risk groups, e.g. in patients with chronic kidney disease (CKD).
Therefore, the investigators initiated a multicenter case-finding study in Austria by screening patients with chronic kidney disease not yet on renal replacement therapy. Molecular isoforms of globotriaosylceramide (Gb3), characterized by different chain lengths of their N-acyl residues, will be determined in a urine sample. Characteristic parameters, including the ratio of C24/C18 isoforms will be used for identifying patients liable to have the disease. A positive result will be confirmed by biochemical and genetic testing.
A sample size of 5.000 chronic kidney disease patients is envisaged allowing for detection of 1 to 25 patients with Anderson-Fabry disease.
- Keywords
- Anderson Fabry disease, chronic kidney disease, prevalence
- Medical subject headings
- Fabry Disease, Renal Insufficiency, Chronic
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Aug 2008 (estimated)
- Study startOct 2008
- Primary completionAug 2011
- Study completionDec 2011
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Focus of Study: Prevalence of Fabry Disease in CKD PopulationStudies 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
- Cross-sectional
- Enrolment
- 4,353 participants (actual)
Sponsor and investigators
- Lead sponsor
- Klinikum Wels-Grieskirchen
- Sponsor type
- University, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Responsible party
- Principal investigator, Manfred Wallner MD, Klinikum Wels-Grieskirchen
- Investigators
- Manfred Wallner, MD, Principal investigator, Klinikum Wels-Grieskirchen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00728364
- Sponsor's protocol ID
- AFD-CKD-Austria-2008
- Status last verified
- Apr 2012
- First submitted
- 31 Jul 2008
- Last updated
- 12 Apr 2012
- Results posted
- No
- Data monitoring committee
- No
Publications
Kotanko P, Kramar R, Devrnja D, Paschke E, Voigtlander T, Auinger M, Pagliardini S, Spada M, Demmelbauer K, Lorenz M, Hauser AC, Kofler HJ, Lhotta K, Neyer U, Pronai W, Wallner M, Wieser C, Wiesholzer M, Zodl H, Fodinger M, Sunder-Plassmann G. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol. 2004 May;15(5):1323-9. doi: 10.1097/01.asn.0000124671.61963.1e.
PubMed 15100373
Study at a glance
From the registry record, last updated by the sponsor on 12 Apr 2012. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Case Finding Study for Anderson-Fabry Disease Among Patients With Chronic Kidney Disease Not on Renal Replacement Therapy
- ClinicalTrials.gov ID
- NCT00728364
- Acronym / sponsor ID
- AFD-CKD-Austria-2008
- Keywords
- Anderson Fabry disease, chronic kidney disease, prevalence
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 4,353 participants (actual)
- Lead sponsor
- Klinikum Wels-GrieskirchenUniversity, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Study start
- Oct 2008
- Primary completion
- Aug 2011 (actual)
- Study completion
- Dec 2011 (actual)
- First posted
- 5 Aug 2008 (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.
Anderson-Fabry disease is a rare X-linked lysosomal storage disorder due to the deficiency of alfa-galactosidase A (AGAL). The subsequent accumulation of glycosphingolipids may lead to to cardiac, renal, and central nervous system impairment as well as premature death. Recently published studies suggest that the true incidence of the disease may be underestimated in certain risk groups, e.g. in patients with chronic kidney disease (CKD).
Therefore, the investigators initiated a multicenter case-finding study in Austria by screening patients with chronic kidney disease not yet on renal replacement therapy. Molecular isoforms of globotriaosylceramide (Gb3), characterized by different chain lengths of their N-acyl residues, will be determined in a urine sample. Characteristic parameters, including the ratio of C24/C18 isoforms will be used for identifying patients liable to have the disease. A positive result will be confirmed by biochemical and genetic testing.
A sample size of 5.000 chronic kidney disease patients is envisaged allowing for detection of 1 to 25 patients with Anderson-Fabry disease.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 18 to 85 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with chronic kidney disease KDOQI stage 1-5 attending outpatient nephrology clinics in Austria and willing to participate
Key inclusion criteria (2 listed)
- Chronic kidney disease KDOQI stage 1-5
- Informed consent
Key exclusion criteria (2 listed)
- Patients already on renal replacement therapy
- Not willing to participate
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
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Apr 2012.
- Results publication: PubMed 15100373Kotanko P, Kramar R, Devrnja D, Paschke E, Voigtlander T, Auinger M, Pagliardini S, Spada M, Demmelbauer K, Lorenz M, Hauser AC, Kofler HJ, Lhotta K, Neyer U, Pronai W, Wallner M, Wieser C, Wiesholzer M, Zodl H, Fodinger M, Sunder-Plassmann G. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol. 2004 May;15(5):1323-9. doi: 10.1097/01.asn.0000124671.61963.1e.
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.
Manfred Wallner, MD principal investigator
Klinikum Wels-Grieskirchen
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 Focus of Study: Prevalence of Fabry Disease in CKD Population, run by Klinikum Wels-Grieskirchen 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 2 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: finished, as of the sponsor's last update on 12 Apr 2012. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00728364, which also lists 1 linked publication.
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 12 Apr 2012.