No registrations found.
ID
Source
Brief title
Health condition
Fabry disease
Diagnosis
Algorithm
Sponsors and support
Academia: Amc
pharma: Genzyme, a sanofy company
subsidizing party: Shire HGT
Academia: Amc
pharma: Genzyme, a sanofy company
subsidizing party: Shire HGT
Intervention
Outcome measures
Primary outcome
Diagnostic 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 outcome
N/A
Background summary
The 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'.
Study objective
Individuals 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.
Study design
3/2013: 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.
Intervention
All organ systems will be explored using clinical and biochemical assessments that are part of the standard of care. There are no additional study interventions.
F5-165<br>
Academic Medical Center<br>
Meibergdreef 9
Linda Tol, van der
Amsterdam 1105 AZ
The Netherlands
+31 (0)20 5666071
l.vandertol@amc.uva.nl
F5-165<br>
Academic Medical Center<br>
Meibergdreef 9
Linda Tol, van der
Amsterdam 1105 AZ
The Netherlands
+31 (0)20 5666071
l.vandertol@amc.uva.nl
Inclusion criteria
Males:
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 criteria
Patient is unwilling to participate.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| NTR-new | NL3670 |
| NTR-old | NTR3840 |
| Other | TI pharma : T6-504 |
| ISRCTN | ISRCTN wordt niet meer aangevraagd. |