Fabry disease
Conditions
Interventions
Group 1: 50 patients with Fabry disease suffering from pain: sensory testing, measurement of perfusion via functional laser speckle contrast analysis (fLASCA) after skin heating and physical exertion
Sponsors
Universitätsklinikum Schleswig-Holstein, Campus Kiel
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Inclusion criteria
Inclusion criteria: Fabry patients - patients suffering from chronic pain - on a stable therapy regimen for at least two years or not receiving treatment - able to give informed consent healthy controls Chosen according to the criteria provided in: Gierthmühlen J, Enax-Krumova EK, Attal N, Bouhassira D, Cruccu G, Finnerup NB, Haanpää M, Hansson P, Jensen TS, Freynhagen R, Kennedy JD, Mainka T, Rice ASC, Segerdahl M, Sindrup SH, Serra J, Tölle T, Treede RD, Baron R, Maier C. Who is healthy? Aspects to consider when including healthy volunteers in QST--based studies-a consensus statement by the EUROPAIN and NEUROPAIN consortia. Pain. 2015 Nov;156(11):2203-2211. doi: 10.1097/j.pain.0000000000000227. PMID: 26075963.
Exclusion criteria
Exclusion criteria: Fabry patients: - severe depression - chronic alcoholism (regular consumption of alcohol exceeding 10 g a day for women and 20 g a day for men) or substance abuse (including consumption of any illegal drugs, consumption of prescription medication (e.g. opioids, benzodiazepines) either not prescribed to the patients or in overly high doses) - The use of medical cannabis as well as CBD or THC preparation or supplement-grade CBD (according to German regulations) is permitted. Patients consuming cannabis which is not prescribed by a medical professional and obtained from a pharmacy or licensed dispensary will be excluded. - patients on investigational drugs - any reason preventing an accurate understanding of the tests
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Identification of subgroups in patients with Fabry disease based on sensory and vascular parameters | — |
Secondary
| Measure | Time frame |
|---|---|
| Subgroups of patients identified will be compared concerning (1) different pain types, (2) development of pain with or without medication, (3) disease progression with or without ERT, (4) genetic differences. | — |
Countries
Germany
Contacts
Public ContactRalf Baron
Universitätsklinikum Schleswig-Holstein, Campus Kiel
Outcome results
None listed