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Clinical Trials/NL-OMON21690
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

Registry
who.int
Start Date
TBD
End Date
TBD
Last Updated
2 years ago
Study Type
Interventional

Investigators

Sponsor
TIpharma consortiumAcademia: Amcpharma: Genzyme, a sanofy companysubsidizing party: Shire HGT

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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