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Assessing small fiber neuropathy for improved diagnosis of Fabry disease.


- candidate number14239
- NTR NumberNTR3841
- ISRCTNISRCTN wordt niet meer aangevraagd.
- Date ISRCTN created
- date ISRCTN requested
- Date Registered NTR21-jan-2013
- Secondary IDsT6-504 TI pharma
- Public TitleAssessing small fiber neuropathy for improved diagnosis of Fabry disease.
- Scientific TitleQuantitative sensory testing and intraepidermal nerve fiber density for improved diagnosis of Fabry disease.
- ACRONYMHamlet study
- hypothesisIndividuals 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.
- Healt Condition(s) or Problem(s) studiedFabry disease, Diagnosis, Small fiber neuropathy
- 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 receivedyes
- multicenter trialno
- randomisedno
- groupParallel
- TypeSingle arm
- Studytypeintervention
- planned startdate 1-jan-2013
- planned closingdate31-dec-2013
- Target number of participants25
- Interventions1. Quantitative sensory testing (temperature threshold examination) AND;
2. Skin biopsy for Intraepidermal nerve fiber count.
- Primary outcomePrimary 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 outcomeSecondary 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.
- Timepoints1. January 2013 start inclusion of subjects;
2. June 2013 analyzing results.
- 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 Academic Medical Center (AMC, Amsterdam), Genzyme Corporation
- Funding
(Source(s) of Monetary or Material Support)
TIpharma consortium, Shire HGT, Academic Medical Center (AMC), Genzyme Corporation
- PublicationsN/A
- Brief summaryThe 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'.
- 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