Autonomic Small Fiber Neuropathy and Ehlers Danlos Syndromes - Prospective Study and Registry

Recruiting

• Conditions: Ehlers-Danlos Syndrome Hypermobility Type; Autonomic Neuropathy; Small Fiber Neuropathy; Postural Tachycardia Syndrome

• 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.

Study Timeline

• Study Start: 2019-09-15
• Study First Submitted: 2020-03-13
• Study First Submitted QC: 2020-03-13
• Study First Posted: 2020-03-17
• Status Verified: 2025-02
• Last Update Submitted: 2025-02-03
• Last Update Posted: 2025-02-04
• Primary Completion: 2028-09-15
• Study Completion: 2029-09-15

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 200

Inclusion Criteria

• 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

Exclusion Criteria

• pregnancy
• Pacemaker or Deep brain Stimulation
• sensory or motor Polyneuropathy
• neurodegenerative disease

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

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)

Trial Locations

Locations (1)

University clinic RWTH Aachen; 🇩🇪 Aachen, Nordrhein Westfalen, Germany