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The Hamlet study. Fabry or not Fabry: Better diagnosis of Fabry disease.


- candidate number14238
- NTR NumberNTR3840
- ISRCTNISRCTN wordt niet meer aangevraagd.
- Date ISRCTN created
- date ISRCTN requested
- Date Registered NTR21-jan-2013
- Secondary IDsT6-504 TI pharma
- Public TitleThe Hamlet study. Fabry or not Fabry: Better diagnosis of Fabry disease.
- Scientific TitleThe Hamlet study. Fabry or not Fabry: Valorization of clinical and laboratory assessments for improved diagnosis of Fabry disease.
- ACRONYMHamlet study
- hypothesisIndividuals with a single, non-specific symptom are often identified with a genetic variation of unknown significance in de AlfaGalactosidase A gene that is involved in Fabry disease. This study aims to develop diagnostic algorithms to improve the identification of true Fabry patients.
- Healt Condition(s) or Problem(s) studiedDiagnosis, Algorithm, Fabry disease
- Inclusion criteriaMales:
Decrease in alpha-galactosidase A activity in leucocytes, plasma or fibroblasts according to local laboratory criteria AND presence of a mutation in the alpha- galactosidase A gene of uncertain clinical relevance.

Females:
Presence of a mutation in the alpha-galactosidase A gene of uncertain clinical relevance.
- Exclusion criteriaPatient is unwilling to participate.
- mec approval receivedno
- multicenter trialno
- randomisedno
- groupParallel
- TypeSingle arm
- Studytypeobservational
- planned startdate 1-jan-2012
- planned closingdate31-dec-2013
- Target number of participants25
- InterventionsAll organ systems will be explored using clinical and biochemical assessments that are part of the standard of care. There are no additional study interventions.
- Primary outcomeDiagnostic criteria to determine if an individual has true Fabry disease or a non disease causing genetic variation.
These criteria will be incorporated in diagnostic algorithms per organ system (e.g. Heart, kidney). These algorithms will serve to:
1. Improve early identification of true Fabry patients, who may benefit from treatment and counseling;
2. Avoid misdiagnosis and unjustified treatment in individuals who do not have Fabry disease;
3. Improve the understanding of the phenotypic variability of Fabry disease by exploring each organ system;
4. Improve the understanding of the value of biochemical and genetic characterization of Fabry patients.
- Secondary outcomeN/A
- Timepoints3/2013: 2nd review of algorithms based upon new information. Report back to UMCs on study progress; Second newsletter.
9/2013: Meeting: Review outcomes, adjust algorithms, third newsletter.
12/2013: Final report/ publications in peer reviewed Medical journals, fourth newsletter.
- Trial web sitewww.amc.nl/sphinx
- statusopen: patient inclusion
- CONTACT FOR PUBLIC QUERIES Linda Tol, van der
- CONTACT for SCIENTIFIC QUERIES Linda Tol, van der
- Sponsor/Initiator Genzyme Corporation , Academic Medical Center (AMC), Amsterdam
- Funding
(Source(s) of Monetary or Material Support)
Academic Medical Center (AMC), TIpharma consortium, Genzyme Corporation, Shire HGT
- PublicationsN/A
- Brief summaryThe aim of the current study is to improve the use of clinical, imaging and laboratory assessments for early identification of the truly affected Fabry patient. This patient might subsequently benefit from treatment and counseling, while an individual who does not have Fabry disease will not be subject to the burden of having a genetic disease and time consuming and very costly treatment. The added value of assessing small fiber neuropathy for improved diagnosis is studied in a separate protocol that is part of the TI-pharma project T6-504, and is also registered in the 'Nederlands Trial Register'.
- Main changes (audit trail)
- RECORD21-jan-2013 - 11-dec-2013


  • Indien u gegevens wilt toevoegen of veranderen, kunt u een mail sturen naar nederlands@trialregister.nl