NL-OMON21690
Recruiting
Not Applicable
Quantitative sensory testing and intraepidermal nerve fiber density for improved diagnosis of Fabry disease.
TIpharma consortiumAcademia: Amcpharma: Genzyme, a sanofy companysubsidizing party: Shire HGT0 sites25 target enrollmentTBD
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Fabry diseaseSmall fiber neuropathyDiagnosis
- Sponsor
- TIpharma consortiumAcademia: Amcpharma: Genzyme, a sanofy companysubsidizing party: Shire HGT
- Enrollment
- 25
- Status
- Recruiting
- Last Updated
- 2 years ago
Overview
Brief Summary
/A
Investigators
Eligibility Criteria
Inclusion Criteria
- •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.
Outcomes
Primary Outcomes
Not specified
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