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Completed

NCT Number: NCT05912400

Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1

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.

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Key information

Conditions

Neurofibromatosis 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Neoplasms Neoplasms by Histologic Type Neoplasms, Nerve Tissue Neoplastic Syndromes, Hereditary Nerve Sheath Neoplasms Nervous System Diseases Neurocutaneous Syndromes Neurodegenerative Diseases Neurofibroma Neurofibromatoses Neuromuscular Diseases Peripheral Nervous System Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Arkansas For Medical Sciences

Little Rock, Arkansas, 72205, United States

About this study

Neurofibromatosis type 1 is a common genetic disease with a broad spectrum of clinical manifestations in multiple organs of the body. Some of those symptoms are skin lesions, tumors and cancers, as also pain, and fatigue. In animal models of this disease, dysfunction of mitochondria, a part of the cell which is responsible for energy production, is often described. 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). Those blood samples will be used to run tests that analyses the function of the mitochondria and compare the results from the neurofibromatosis group with the control group. As multiple samples from the same patient will be tested in different times, 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. Doing so, the investigator plan to confirm mitochondrial dysfunction in patients, if the degree of dysfunction correlates with symptoms like pain and fatigue, and if supplements and medication like MEK inhibitors that patients with neurofibromatosis type 1 use in a daily basis modulates (for better or worse) a pre-existing mitochondrial dysfunction.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

NF1 Group:

Inclusion criteria

  • Diagnosed with NF1

Inclusion criteria

  • Not the first degree relative (biological parent, sibling, or child) of the NF1 patient who is in the NF1 group

Treatment and study plan

Blood draw

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

FACIT-F and Pain Scales

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

Primary outcomes

  1. Mitochondrial Respiration Efficiency (as Measured by OCR).

    Time frame: Baseline, Week 14, Week 28

    Mitochondrial respiration efficiency is measured here by the oxygen consumption rate (OCR) which is measured in units of picomoles per minute.

  2. Mitochondrial Respiration Efficiency (as Measured by ECAR).

    Time frame: Baseline, Week 14, Week 28

    Mitochondrial respiration efficiency is measured here by the extracellular acidification rate (ECAR) which is measured in millipH per minute.

  3. Vitamin D Levels

    Time frame: Baseline

    We hypothesize that mitochondrial dysfunction among NF1 patients sensitizes them to therapeutic interventions targeting mitochondria. We will assess the impact of vitamin D treatment to potentially improve mitochondrial function as measured by OCR. Vitamin D is measured in units of nanogram per milliliter.

  4. Pain (as Measured With NRS-11 for Current Pain Over the Past 24 Hours) of NF1 Patients

    Time frame: Baseline, Week 14, Week 28

    The NF1 clinical symptom of pain as measured with The Numeric Pain Rating Scale (NRS-11) for current pain over the past 24 hours (min=0, max=10, higher score = more pain). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits).

  5. Pain (as Measured With NRS-11 for Best Pain Over the Past 24 Hours) of NF1 Patients

    Time frame: Baseline, Week 14, Week 28

    The NF1 clinical symptom of pain as measured with The Numeric Pain Rating Scale (NRS-11) for best pain over the past 24 hours (min=0, max=10, higher score = more pain). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits).

  6. Pain (as Measured With NRS-11 for Worst Pain Over the Past 24 Hours) of NF1 Patients

    Time frame: Baseline, Week 14, Week 28

    The NF1 clinical symptom of pain as measured with The Numeric Pain Rating Scale (NRS-11) for worst pain over the past 24 hours (min=0, max=10, higher score = more pain). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits).

  7. Fatigue (as Measured FACIT-F TOI) of NF1 Patients.

    Time frame: Baseline, Week 14, Week 28

    The NF1 clinical symptom of fatigue as measured with the Functional Assessment of Chronic Illness Therapy - Fatigue (FACIT-F). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits).

    The FACIT-F asks respondents to rate items on a scale from 0 to 4. There are 5 subscales with varying possible ranges (due to varying numbers of items) as follows:

    • Physical Well-Being Subscale: Range 0-28,
    • Social/Family Well-Being Subscale: Range 0-28,
    • Emotional Well-Being Subscale: Range 0-24,
    • Functional Well-Being Subscale: Range 0-28, and
    • Fatigue Subscale: Range 0-52. The Trial Outcome Index (TOI) is the total score we chose to analyze. It consists of the sum of the Physical Well-Being Subscale, Functional Well-Being Subscale, and Fatigue Subscale and has a score range of 0-108.

    The higher the score, the better the quality of life.

Sponsors and collaborators

Lead sponsor

University of Arkansas

Other

Registry information

Important dates

Study start
2023
Primary completion
2024
Study completion
2024
First posted
Jun 22, 2023
Registry last updated
May 8, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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