Fabry disease Small fiber neuropathy Diagnosis
Conditions
Interventions
1. Quantitative sensory testing (temperature threshold examination) AND
2. Skin biopsy for Intraepidermal nerve fiber count.
Sponsors
TIpharma consortium
Academia: Amc
pharma: Genzyme, a sanofy company
subsidizing party: Shire HGT
Eligibility
Inclusion criteria
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
Exclusion criteria: Patient is unwilling to participate.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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
| Measure | Time frame |
|---|---|
| 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. | — |
Contacts
Public ContactLinda Tol, van der
Dept of Internal Medicine, div of Endocrinology and Metabolism F5-165 Academic Medical Center Meibergdreef 9
Outcome results
None listed