Individuals with a single, non-specific symptom are often identified with a genetic variant of unknown significance in the Alpha Galactosidase A gene that is involved in Fabry disease. Assessment of Small fibre neuropathy that is often present in…
ID
Bron
Verkorte titel
Aandoening
Fabry disease
Small fiber neuropathy
Diagnosis
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
Primary objective:<br>
To determine if alterations of intraepidermal nerve fiber density and quantitative sensory testing are present in patients with a possible diagnosis of Fabry disease, but without clinical signs and symptoms of small fiber neuropathy.
Achtergrond van het onderzoek
The aim of the current study is to evaluate the added value of quantitative sensory testing and intraepidermal nerve fiber density in individuals with a AGAL deficiency and/or variation in the GLA gene of unknown clinical significance. These assessments will be incorporated in a general Fabry disease diagnostic algorithm that will explore all organ systems involved in Fabry disease. this study is part of the TI-pharma project T6-504, the Hamlet study that 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 variant of unknown significance in the Alpha Galactosidase A gene that is involved in Fabry disease. Assessment of Small fibre neuropathy that is often present in classically affected Fabry disease patients, may be helpfull to identify true Fabry disease patients. The assessments will subsequently be incorporated in a diagnostic algorithm for Fabry disease.
Onderzoeksopzet
1. January 2013 start inclusion of subjects;
2. June 2013 analyzing results.
Onderzoeksproduct en/of interventie
1. Quantitative sensory testing (temperature threshold examination) AND;
2. Skin biopsy for Intraepidermal nerve fiber count.
Publiek
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
Wetenschappelijk
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 | NL3671 |
| NTR-old | NTR3841 |
| Ander register | TI pharma : T6-504 |
| ISRCTN | ISRCTN wordt niet meer aangevraagd. |