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

NCT05645874 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 203

Last updated 2025-11-28

No results posted yet for this 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 SFN is a clinically relevant cause of pain and autonomic dysfunction.

Conditions

  • Mitochondrial Diseases
  • Developmental Delay Disorder
  • Small Fiber Neuropathy
  • Cerebral Palsy

Interventions

DIAGNOSTIC_TEST

Skin biopsy

Control skin biopsies from children without a chronic underlying disease are drawn from surgical crop margins during elective orthopedic surgery of the lower leg (n\<80). Skin punch biopsies from children with acquired (n\<80) or genetic NDD (n\<80) or unknown etiology (N\<80) are drawn in the setting of elective interventions during sedation or after local anesthesia. IENFD is quantified by immunohistochemistry and compared between the control and NDD group.

Sponsors & Collaborators

  • Heinrich-Heine University, Duesseldorf

    lead OTHER

Principal Investigators

  • Felix Distelmaier · Department of General Pediatrics, Heinrich-Heine-University, Düsseldorf, Germany.

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2022-02-01
Primary Completion
2024-12-31
Completion
2024-12-31

Countries

  • Germany

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05645874 on ClinicalTrials.gov