Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1
Purpose
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.
Condition
- Neurofibromatosis 1
Eligibility
- Eligible Ages
- Over 18 Years
- Eligible Genders
- All
- Accepts Healthy Volunteers
- Yes
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
Study Design
- Phase
- Study Type
- Observational
- Observational Model
- Other
- Time Perspective
- Prospective
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| NF1 Group | This study will look to enroll 40 to 45 adults over 18 years old diagnosed with NF1. |
|
| Control Group | This study will look to enroll 10 to 15 adults over 18 years old without NF1. |
|
Recruiting Locations
More Details
- NCT ID
- NCT05912400
- Status
- Completed
- Sponsor
- University of Arkansas
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.