Autonomic Small Fiber Neuropathy and Ehlers Danlos Syndromes - Prospective Study and Registry
- Conditions
- Ehlers-Danlos Syndrome Hypermobility TypeAutonomic NeuropathySmall Fiber NeuropathyPostural Tachycardia Syndrome
- Interventions
- Other: No intervention planned, but all patients get our standart treatment
- Registration Number
- NCT04310644
- Lead Sponsor
- RWTH Aachen University
- Brief Summary
We examine patients with different autonomic neuropathies and Ehlers Danlos syndromes compared to healthy controls at three different points over time (baseline, after 3 months and after 1.5 years) to gain knowledge about the course of this disease and understand its pathophysiology, with a focus on Small Fiber neuropathy. Moreover we will validate the german version of the Malmö POTS Score and establish an easy diagnostic scheme for patients in outpatient care.
- Detailed Description
Inclusion of patients with autoimmune autonomic neuropathies/ pure autonomic failure, postural orthostatic tachycardia syndrome, small fiber neuropathies, Ehlers-Danlos syndromes, Mast cell activation syndrom, Chronic fatigue syndrome and PostCOVID syndrome in our Registry study with follow up visits. Comparison to healthy controls concerning selected examinations.
Planned examinations are laboratory tests, questionnaires on mental and physical health status and circulatory disorders, attention tests, tilt table testing, standing test, sweat function, investigation of small fiber function via quantitative sensory testing as well as the density of nerve fibers in the skin. Measurements are performed at baseline mostly in clinical routine and follow up visits are offered.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 200
- autonomic neuropathy
- Postural orthostatic tachycardia syndrome
- hypermobile or classical Ehlers Danlos syndromes
- Chronic fatigue syndrome, mast cell activation syndrome and/or PostCOVID
- healty controls
- between 18-80 years
- in patients: diagnosis and clinical testing in our outpatient clinic
- German speaking
- pregnancy
- Pacemaker or Deep brain Stimulation
- sensory or motor Polyneuropathy
- neurodegenerative disease
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Autoimmune autonomic neuropathy/Pure autonomic failure No intervention planned, but all patients get our standart treatment Patients who have an autoimmune autonomic neuropathy based on clinical diagnosis and antibody testing in our outpatient clinic. Cardial MIBG Scintigraphy should have been performed. Ehlers Danlos Syndrome No intervention planned, but all patients get our standart treatment Patients with hypermobile or classical EDS who are already diagnosed including genetical testing for classical or vascular EDS and Marfan Syndromes Postural Orthostatic Tachycardia Syndrome No intervention planned, but all patients get our standart treatment Patients with orthostatic intolerance because of Postural orthostatic tachycardia syndrome diagnosed in our outpatient clinic by tilt table examination.
- Primary Outcome Measures
Name Time Method Blood pressure baseline, 3 months and 18 months Change in systolic and diastolic blood pressure over time
Skin biopsy baseline intraepithelial nerve fiber density between groups
Heart frequency baseline, 3 months and 18 months Change in heart frequency over time
Composite autonomic severity Score baseline, 3 months and 18 months Change of the Score over time, the results are interpreted as normal (score=0), mild (score=1-3), moderate (score=4-6) or severe (score=7-10)
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
University clinic RWTH Aachen
🇩🇪Aachen, Nordrhein Westfalen, Germany