Clinical trial NCT05912400: Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1
Official title: Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Neurofibromatosis 1
Lead sponsor: University of Arkansas
Sponsor class: OTHER
First posted: 2023-06-22
Enrollment: 55
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: * 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.

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 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.

Eligibility 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

Primary outcomes:
measure: Mitochondrial Respiration Efficiency (as Measured by OCR).
timeFrame: Baseline, Week 14, Week 28
measure: Mitochondrial Respiration Efficiency (as Measured by ECAR).
timeFrame: Baseline, Week 14, Week 28
measure: Vitamin D Levels
timeFrame: Baseline
measure: Pain (as Measured With NRS-11 for Current Pain Over the Past 24 Hours) of NF1 Patients
timeFrame: Baseline, Week 14, Week 28
measure: Pain (as Measured With NRS-11 for Best Pain Over the Past 24 Hours) of NF1 Patients
timeFrame: Baseline, Week 14, Week 28
measure: Pain (as Measured With NRS-11 for Worst Pain Over the Past 24 Hours) of NF1 Patients
timeFrame: Baseline, Week 14, Week 28
measure: Fatigue (as Measured FACIT-F TOI) of NF1 Patients.
timeFrame: Baseline, Week 14, Week 28
Secondary outcomes:
Other outcomes:
Locations:
city: Little Rock
country: United States
facility: University of Arkansas For Medical Sciences
state: Arkansas
Study officials:
affiliation: University of Arkansas
name: Erika Santos Horta, MD
role: PRINCIPAL_INVESTIGATOR
References: