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

NCT ID: NCT04310644

Last Updated: 2025-02-04

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-09-15

Study Completion Date

2029-09-15

Brief Summary

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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

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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.

Conditions

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Autonomic Neuropathy Ehlers-Danlos Syndrome Hypermobility Type Small Fiber Neuropathy Postural Tachycardia Syndrome

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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Postural Orthostatic Tachycardia Syndrome

Patients with orthostatic intolerance because of Postural orthostatic tachycardia syndrome diagnosed in our outpatient clinic by tilt table examination.

No intervention planned, but all patients get our standart treatment

Intervention Type OTHER

Patients are selected from clinical Routine and get our standart Treatment based on their disease

Ehlers Danlos Syndrome

Patients with hypermobile or classical EDS who are already diagnosed including genetical testing for classical or vascular EDS and Marfan Syndromes

No intervention planned, but all patients get our standart treatment

Intervention Type OTHER

Patients are selected from clinical Routine and get our standart Treatment based on their disease

Autoimmune autonomic neuropathy/Pure autonomic failure

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.

No intervention planned, but all patients get our standart treatment

Intervention Type OTHER

Patients are selected from clinical Routine and get our standart Treatment based on their disease

Healthy controls

Healthy controls with no documented cardiovascular or neurological disorders and no symtoms of autonomic failure/dizziness/fainting

No interventions assigned to this group

others

Patients who have comorbidities as mast cell activation syndrome, chronic fatigue and/or Post COVID syndrome, based on clinical diagnosis in our outpatient clinic.

No interventions assigned to this group

Interventions

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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

Intervention Type OTHER

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Maximum Eligible Age

80 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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DLR German Aerospace Center

OTHER

Sponsor Role collaborator

RWTH Aachen University

OTHER

Sponsor Role lead

Responsible Party

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Andrea Maier

Primary Investigator and attending physician

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Andrea Maier

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Aachen

Locations

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University clinic RWTH Aachen

Aachen, North Rhine-Westphalia, Germany

Site Status RECRUITING

Countries

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Germany

Central Contacts

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Andrea Maier, physician

Role: CONTACT

+492418089600 ext. +492418089600

Denver Igharo, student

Role: CONTACT

+492418089600 ext. +492418089600

Facility Contacts

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Andrea Maier, physician

Role: primary

+492418089600 ext. +492418089600

Denver Igharo, student

Role: backup

+492418089600 ext. +492418089600

References

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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.

Reference Type DERIVED
PMID: 36437696 (View on PubMed)

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.

Reference Type DERIVED
PMID: 36300662 (View on PubMed)

Related Links

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https://www.ukaachen.de/kliniken-institute/ans-ambulanz/die-ans-ambulanz.html

official homepage of our outpatient clinic for autonomic nervous system disorders

https://pubmed.ncbi.nlm.nih.gov/36437696/

Paper Skin biopsy reveals generalized small fibre neuropathy in hypermobile Ehlers-Danlos syndromes

Other Identifiers

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19-016

Identifier Type: -

Identifier Source: org_study_id

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