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Trial Title:
Evaluating Mitochondrial Dysfunction in Patients with Neurofibromatosis Type 1
NCT ID:
NCT05912400
Condition:
Neurofibromatosis 1
Conditions: Official terms:
Neurofibromatoses
Neurofibromatosis 1
Neurofibroma
Mitochondrial Diseases
Study type:
Observational
Overall status:
Active, not recruiting
Study design:
Time perspective:
Prospective
Intervention:
Intervention type:
Diagnostic Test
Intervention name:
Blood draw
Description:
• An additional 10 mL of blood will then be drawn for mitochondrial testing purposes.
Arm group label:
Control Group
Arm group label:
NF1 Group
Intervention type:
Other
Intervention name:
FACIT-F and Pain Scales
Description:
• Questionnaires regarding pain and fatigue will be provided for the subject to review
and answer.
Arm group label:
NF1 Group
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.
Criteria for eligibility:
Study pop:
- Patients with NF1 at the UAMS Adult NF1 clinic will be invited to participate in the
study during their regular clinic appointments.
- Spouses, friends, and non-relatives of NF1 patients who come to the UAMS Adult NF1
Clinic will be invited to participate in the control arm of the study at the time of
the patient appointment.
Sampling method:
Non-Probability Sample
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
Gender:
All
Minimum age:
18 Years
Maximum age:
N/A
Healthy volunteers:
Accepts Healthy Volunteers
Locations:
Facility:
Name:
University of Arkansas For Medical Sciences
Address:
City:
Little Rock
Zip:
72205
Country:
United States
Start date:
July 26, 2023
Completion date:
September 30, 2026
Lead sponsor:
Agency:
University of Arkansas
Agency class:
Other
Source:
University of Arkansas
Record processing date:
ClinicalTrials.gov processed this data on November 12, 2024
Source: ClinicalTrials.gov page:
https://clinicaltrials.gov/ct2/show/NCT05912400
