CompletedNot Applicable

Reference Values of Intraepidermal Nerve Fiber Density in Children and Small Fiber Neuropathy in Neurodevelopmental Disorders

Germany203 participantsStarted 2022-02-01

Plain-language summary

Background: Small-Fiber-Neuropathy describes the degeneration of mildly or unmyelinated nerve fibers and causes neuropathic pain and autonomic dysfunction. Gold standard for the diagnosis is a small skin punch biopsy from the lower leg and the histological quantification of the intraepidermal nerve fiber density (IENFD). In children, the normal IENFD has not been systematically assessed and normal reference values are needed. In Parkinson´s disease, the neurodegeneration also affects the peripheral nerves and SFN is present already in the early stages. Whether neurodevelopmental disorders (NDDs) in childhood are likewise associated with SFN is largely unknown. The IENFD is age-dependent and declines with age. Aims: In this study, we are establishing the reference values for the physiological IENFD in children from 0-18 years. Moreover, we are investigating if children with NDDs have a reduced IENFD and if SFN is a clinically relevant cause of pain and autonomic dysfunction.

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

control patients Inclusion Criteria: * Elective surgical intervention from lower leg * Interest to participate in the study, informed consent * Unremarkable neurological development Exclusion Criteria: * Clinical signs of polyneuropathy, autonomic dysfunction * Skin inflammation, scar, skin disease, other known chronic diseases that can cause small fiber pathology Neurodevelopmental patients Inclusion Criteria: * Neurodevelopmental problems (developmental delay, muscular hypotonia, seizures, ataxia,...) with age of onset before the age of 18 years * Interest to participate in the study, informed consent Exclusion Criteria: * Known polyneuropathy * Skin inflammation, scar, skin disease, other known chronic diseases that can cause small fiber pathology

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Part 1 - Cutoff for reduced intraepidermal nerve fiber density (IENFD) in children

Timeframe: 2 years

Part 2 - Proportion of children with reduced IENFD among children with neurodevelopmental disorders (NDDs).

Timeframe: 2 years

Trial details

NCT IDNCT05645874

SponsorHeinrich-Heine University, Duesseldorf

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2024-12-31

View on ClinicalTrials.gov More Mitochondrial Diseases trials

Plain-language summary

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.