Autonomic Small Fiber Neuropathy and Ehlers Danlos Syndromes - Prospective Study and Registry
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: No intervention planned, but all patients get our standart treatment.
- Who it may be relevant to
- Registry conditions: Autonomic Neuropathy, Ehlers-Danlos Syndrome Hypermobility Type, Small Fiber Neuropathy, Postural Tachycardia Syndrome. Basic parameters: 18 years — 80 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Germany
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Autonomic Neuropathy and Its Pathophysiology in Autoimmune Autonomic Neuropathies, Postural Orthostatic Tachycardia Syndrome and Ehlers Danlos Syndromes: Peripheral Autonomic Small Fiber Neuropathy or Central Autonomic Failure? Validation of the Malmö POTS Score and a Better Diagnosis of POTS in Patientes With Autnomic Failure (VaGeMAPS-3-step-Diag)
Overview
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.
Interventions
- Other No intervention planned, but all patients get our standart treatment
Patients are selected from clinical Routine and get our standart Treatment based on their disease
Primary outcome measures
- Blood pressure [Time frame: baseline, 3 months and 18 months]
- Heart frequency [Time frame: baseline, 3 months and 18 months]
- Skin biopsy [Time frame: baseline]
- Composite autonomic severity Score [Time frame: baseline, 3 months and 18 months]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Study design
- Observational model
- Case-control
Study locations
Germany · 1 center
- University clinic RWTH Aachen — Aachen
Publications
- Igharo D, Thiel JC, Rolke R, Akkaya M, Weis J, Katona I, Schulz JB, Maier A. Skin biopsy reveals generalized small fibre neuropathy in hypermobile Ehlers-Danlos syndromes. Eur J Neurol. 2023 Mar;30(3):719-728. doi: 10.1111/ene.15649. Epub 2022 Dec 13. PMID 36437696
- Gerlach DA, Maier A, Manuel J, Bach A, Hoff A, Honemann JN, Heusser K, Voit D, Frahm J, Jordan J, Tank J. Real-Time Magnetic Resonance Imaging to Study Orthostatic Intolerance Mechanisms in Human Beings: Proof of Concept. J Am Heart Assoc. 2022 Nov;11(21):e026437. doi: 10.1161/JAHA.122.026437. Epub 2022 Oct 27. PMID 36300662
Identifiers
NCT: NCT04310644 · 19-016