Clinical Trial: Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1

Study Status: RECRUITING
Recruit Status: RECRUITING
Study Type: OBSERVATIONAL

Official Title: Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1

Brief 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.

Detailed Summary: 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.
Sponsor: University of Arkansas

Current Primary Outcome: Mitochondrial function and cellular bioenergetics will be measured in PBMCs and platelets isolated from blood.
Clinical repercussions of MD in NF1 will be measured through serial scores of fatigue and pain on the same days that PBMC and platelets are collected.
Fatigue will be assessed through the Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-F).

Original Primary Outcome: Mitochondrial function and cellular bioenergetics will be measured in PBMCs and platelets isolated from blood.
Clinical repercussions of MD in NF1 will be measured through serial scores of fatigue and pain on the same days that PBMC and platelets are collected.
Fatigue will be assessed through the Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-F).

Current Secondary Outcome:

Original Secondary Outcome:

Information By: University of Arkansas

Dates:
Date Received: May 31, 2023
Date Started: July 26, 2023
Date Completion: July 26, 2023
Last Updated: August 23, 2023
Last Verified: August 01, 2023