Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1

Completed

Conditions: Neurofibromatosis 1

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

Registration Number: NCT05912400

Lead Sponsor: University of Arkansas

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.

Recruitment & Eligibility

Status: COMPLETED

Sex: All

Target Recruitment: 55

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

Exclusion Criteria

Not provided

Study & Design

Study Type: OBSERVATIONAL

Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
NF1 Group	Blood draw	This study will look to enroll 40 to 45 adults over 18 years old diagnosed with NF1.
NF1 Group	FACIT-F and Pain Scales	This study will look to enroll 40 to 45 adults over 18 years old diagnosed with NF1.
Control Group	Blood draw	This study will look to enroll 10 to 15 adults over 18 years old without NF1.

Primary Outcome Measures

Name	Time	Method
Mitochondrial Respiration Efficiency (as Measured by ECAR).	Baseline, Week 14, Week 28	Mitochondrial respiration efficiency is measured here by the extracellular acidification rate (ECAR) which is measured in millipH per minute.
Vitamin D Levels	Baseline	We hypothesize that mitochondrial dysfunction among NF1 patients sensitizes them to therapeutic interventions targeting mitochondria. We will assess the impact of vitamin D treatment to potentially improve mitochondrial function as measured by OCR. Vitamin D is measured in units of nanogram per milliliter.
Pain (as Measured With NRS-11 for Current Pain Over the Past 24 Hours) of NF1 Patients	Baseline, Week 14, Week 28	The NF1 clinical symptom of pain as measured with The Numeric Pain Rating Scale (NRS-11) for current pain over the past 24 hours (min=0, max=10, higher score = more pain). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits).
Pain (as Measured With NRS-11 for Best Pain Over the Past 24 Hours) of NF1 Patients	Baseline, Week 14, Week 28	The NF1 clinical symptom of pain as measured with The Numeric Pain Rating Scale (NRS-11) for best pain over the past 24 hours (min=0, max=10, higher score = more pain). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits).
Pain (as Measured With NRS-11 for Worst Pain Over the Past 24 Hours) of NF1 Patients	Baseline, Week 14, Week 28	The NF1 clinical symptom of pain as measured with The Numeric Pain Rating Scale (NRS-11) for worst pain over the past 24 hours (min=0, max=10, higher score = more pain). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits).
Mitochondrial Respiration Efficiency (as Measured by OCR).	Baseline, Week 14, Week 28	Mitochondrial respiration efficiency is measured here by the oxygen consumption rate (OCR) which is measured in units of picomoles per minute.
Fatigue (as Measured FACIT-F TOI) of NF1 Patients.	Baseline, Week 14, Week 28	The NF1 clinical symptom of fatigue as measured with the Functional Assessment of Chronic Illness Therapy - Fatigue (FACIT-F). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits). The FACIT-F asks respondents to rate items on a scale from 0 to 4. There are 5 subscales with varying possible ranges (due to varying numbers of items) as follows: 1. Physical Well-Being Subscale: Range 0-28, 2. Social/Family Well-Being Subscale: Range 0-28, 3. Emotional Well-Being Subscale: Range 0-24, 4. Functional Well-Being Subscale: Range 0-28, and 5. Fatigue Subscale: Range 0-52. The Trial Outcome Index (TOI) is the total score we chose to analyze. It consists of the sum of the Physical Well-Being Subscale, Functional Well-Being Subscale, and Fatigue Subscale and has a score range of 0-108. The higher the score, the better the quality of life.