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Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1

NCT05912400 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 55

Last updated 2025-05-08

Study results available
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Summary

Neurofibromatosis type 1 is a common genetic disease with a broad spectrum of clinical manifestations in multiple organs of the body. This project will study the (dys)function of mitochondria in patients with neurofibromatosis through multiple collections of blood samples from patients and people not afflicted by neurofibromatosis (control group). This study will evaluate how the function of mitochondria changes with time and if medications and supplements can influence the function of the mitochondria. Patients will also answer questions regarding symptoms like fatigue and pain.

Conditions

  • Neurofibromatosis 1

Interventions

DIAGNOSTIC_TEST

Blood draw

• An additional 10 mL of blood will then be drawn for mitochondrial testing purposes.

OTHER

FACIT-F and Pain Scales

• Questionnaires regarding pain and fatigue will be provided for the subject to review and answer.

Sponsors & Collaborators

  • University of Arkansas

    lead OTHER

Principal Investigators

  • Erika Santos Horta, MD · University of Arkansas

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2023-07-26
Primary Completion
2024-08-23
Completion
2024-08-23

Countries

  • United States

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 NCT05912400 on ClinicalTrials.gov