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…
ID
Bron
Verkorte titel
Aandoening
Fabry disease
Diagnosis
Algorithm
Ondersteuning
Academia: Amc
pharma: Genzyme, a sanofy company
subsidizing party: Shire HGT
Academia: Amc
pharma: Genzyme, a sanofy company
subsidizing party: Shire HGT
Onderzoeksproduct en/of interventie
Uitkomstmaten
Primaire uitkomstmaten
Diagnostic criteria to determine if an individual has true Fabry disease or a non disease causing genetic variation.<br>
These criteria will be incorporated in diagnostic algorithms per organ system (e.g. Heart, kidney).
These algorithms will serve to:<br>
1. Improve early identification of true Fabry patients, who may benefit from treatment and counseling;<br>
2. Avoid misdiagnosis and unjustified treatment in individuals who do not have Fabry disease;<br>
3. Improve the understanding of the phenotypic variability of Fabry disease by exploring each organ system;<br>
4. Improve the understanding of the value of biochemical and genetic characterization of Fabry patients.
Achtergrond van het onderzoek
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'.
Doel van het onderzoek
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.
Onderzoeksopzet
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.
Onderzoeksproduct en/of interventie
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.
Algemeen / deelnemers
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
Wetenschappers
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
Belangrijkste voorwaarden om deel te mogen nemen (Inclusiecriteria)
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.
Belangrijkste redenen om niet deel te kunnen nemen (Exclusiecriteria)
Patient is unwilling to participate.
Opzet
Deelname
Opgevolgd door onderstaande (mogelijk meer actuele) registratie
Geen registraties gevonden.
Andere (mogelijk minder actuele) registraties in dit register
Geen registraties gevonden.
In overige registers
| Register | ID |
|---|---|
| NTR-new | NL3670 |
| NTR-old | NTR3840 |
| Ander register | TI pharma : T6-504 |
| ISRCTN | ISRCTN wordt niet meer aangevraagd. |