Study of Autonomic Neuropathy and Ehlers-Danlos Syndromes Understanding Small Fiber Neuropathy and Improving Diagnosis of Postural Orthostatic Tachycardia Syndrome Including Validation of the Malmf6 POTS Score

What this Trial Is About

Researchers are studying patients with various autonomic neuropathies and Ehlers-Danlos syndromes, comparing them to healthy individuals at three time points baseline, after 3 months, and after 1.5 years. The study focuses on understanding the disease progression and the underlying mechanisms, especially involving Small Fiber neuropathy. It also aims to validate the German version of the Malm POTS Score and develop a simple diagnostic approach for outpatient care patients. Participants include groups with Postural Orthostatic Tachycardia Syndrome, hypermobile or classical Ehlers-Danlos syndromes, autoimmune autonomic neuropathies, mast cell activation syndrome, chronic fatigue, PostCOVID syndrome, and healthy controls. They receive standard treatment based on their conditions, with no experimental intervention planned. Evaluations occur at baseline, 3 months, and 18 months, including clinical and diagnostic tests. Throughout the study, participants undergo laboratory tests, questionnaires about physical and mental health and circulatory issues, attention tests, tilt table and standing tests, sweat function assessments, small fiber function testing via quantitative sensory testing, and skin biopsy to measure nerve fiber density. Researchers monitor blood pressure, heart rate, and a composite autonomic severity score at each visit. Follow-ups help track disease changes and improve diagnosis, with total participation lasting up to 18 months.

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