Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1

University of Arkansas

Status: Completed

Conditions: Neurofibromatosis 1

Treatments: Diagnostic Test: Blood draw; Other: FACIT-F and Pain Scales

Study type: Observational

Funder types: Other

Identifiers

NCT05912400

274877

Details and patient eligibility

About

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.

Full 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.

Enrollment: 55 patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

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

Trial design

55 participants in 2 patient groups

NF1 Group

Description:

This study will look to enroll 40 to 45 adults over 18 years old diagnosed with NF1.

Treatment:

Other: FACIT-F and Pain Scales

Diagnostic Test: Blood draw

Control Group

Description:

This study will look to enroll 10 to 15 adults over 18 years old without NF1.

Treatment:

Diagnostic Test: Blood draw