Fabry disease Diagnosis Algorithm
Conditions
Interventions
All organ systems will be explored using clinical and biochemical assessments that are part of the standard of care. There are no additional study interventions.
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 |
|---|---|
| Diagnostic criteria to determine if an individual has true Fabry disease or a non disease causing genetic variation. These criteria will be incorporated in diagnostic algorithms per organ system (e.g. Heart, kidney). These algorithms will serve to: 1. Improve early identification of true Fabry patients, who may benefit from treatment and counseling; 2. Avoid misdiagnosis and unjustified treatment in individuals who do not have Fabry disease; 3. Improve the understanding of the phenotypic variability of Fabry disease by exploring each organ system; 4. Improve the understanding of the value of biochemical and genetic characterization of Fabry patients. | — |
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