Clinical trial NCT04310644: Autonomic Small Fiber Neuropathy and Ehlers Danlos Syndromes - Prospective Study and Registry
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)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Autonomic Neuropathy
Ehlers-Danlos Syndrome Hypermobility Type
Small Fiber Neuropathy
Postural Tachycardia Syndrome
Lead sponsor: RWTH Aachen University
Sponsor class: OTHER
Collaborators: name: DLR German Aerospace Center
First posted: 2020-03-17
Enrollment: 200
Sex: ALL
Minimum age (years): 18
Maximum age (years): 80
Standard ages: ADULT
OLDER_ADULT
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: We will include patients with above mentioned disease who are diagnosed and treated in our outpatient clinic for autonomic disorders in Aachen, Germany.

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.

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

Primary outcomes:
measure: Blood pressure
timeFrame: baseline, 3 months and 18 months
measure: Heart frequency
timeFrame: baseline, 3 months and 18 months
measure: Skin biopsy
timeFrame: baseline
measure: Composite autonomic severity Score
timeFrame: baseline, 3 months and 18 months
Secondary outcomes:
Other outcomes:
Locations:
city: Aachen
country: Germany
facility: University clinic RWTH Aachen
state: Nordrhein Westfalen
Study officials:
affiliation: University Hospital, Aachen
name: Andrea Maier
role: PRINCIPAL_INVESTIGATOR
References: