NCT05912400

Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 55 (actual)
• Sponsor: University of Arkansas · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

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 description

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.

Conditions

• Neurofibromatosis 1

Interventions

Type	Name	Description
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.

Timeline

• Start date: 2023-07-26
• Primary completion: 2024-08-23
• Completion: 2024-08-23
• First posted: 2023-06-22
• Last updated: 2025-05-08
• Results posted: 2025-05-08

Locations

1 site across 1 country: United States