No registrations found.
ID
Source
Brief title
Health condition
Fabry disease
Small fiber neuropathy
Diagnosis
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
Primary objective:
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.
Secondary outcome
Secondary objective:
To evaluate if alterations of intraepidermal nerve fiber density and quantitative sensory testing can contribute to the diagnosis of Fabry disease in patients with a possible diagnosis of Fabry disease, but without clinical signs and symptoms of small fiber neuropathy.
Background summary
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'.
Study objective
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.
Study design
1. January 2013 start inclusion of subjects;
2. June 2013 analyzing results.
Intervention
1. Quantitative sensory testing (temperature threshold examination) AND;
2. Skin biopsy for Intraepidermal nerve fiber count.
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 | NL3671 |
| NTR-old | NTR3841 |
| Other | TI pharma : T6-504 |
| ISRCTN | ISRCTN wordt niet meer aangevraagd. |