Assessing small fiber neuropathy for improved diagnosis of Fabry disease.
Recruiting
- Conditions
- Fabry diseaseSmall fiber neuropathyDiagnosis
- Registration Number
- NL-OMON21690
- Lead Sponsor
- TIpharma consortiumAcademia: Amcpharma: Genzyme, a sanofy companysubsidizing party: Shire HGT
- Brief Summary
/A
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 25
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.
Exclusion Criteria
Patient is unwilling to participate.
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Primary objective:<br /><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.
- Secondary Outcome Measures
Name Time Method Secondary objective:<br /><br>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.