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

Last updated: November 30, 2022
Sponsor: Heinrich-Heine University, Duesseldorf
Overall Status: Active - Recruiting

Phase

N/A

Condition

Cerebral Palsy

Autism

Neuronal Ceroid Lipofuscinoses (Ncl)

Treatment

N/A

Clinical Study ID

NCT05645874
SFN children
2021-1556
  • All Genders
  • Accepts Healthy Volunteers

Study 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 SNF is a clinically relevant cause of pain and autonomic dysfunction.

Eligibility Criteria

Inclusion

control patients Inclusion Criteria:

  • Elective surgical intervention from lower leg
  • Interest to participate in the study, informed consent
  • Unremarkable neurological development

Exclusion

Exclusion Criteria:

  • Clinical signs of polyneuropathy, autonomic dysfunction
  • Skin inflammation, scar, skin disease, other known chronic diseases that can causesmall 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 causesmall fiber pathology

Study Design

Total Participants: 240
Study Start date:
January 01, 2022
Estimated Completion Date:
December 30, 2024

Connect with a study center

  • University Hospital Düsseldord, Department of General Pediatrics, Neonatology and Pediatric Cardiology

    Düsseldorf, 40225
    Germany

    Active - Recruiting

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