Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1

NCT05912400 | Completed Results

• 1 other identifier: 274877
• Study Type: observational
• Target: 55
• Locations: 1 country
• Sites: 1

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.

Conditions

Neurofibromatosis 1

Outcome Measures

Primary Outcomes (7)

• Mitochondrial Respiration Efficiency (as Measured by OCR).

  Mitochondrial respiration efficiency is measured here by the oxygen consumption rate (OCR) which is measured in units of picomoles per minute.

  Baseline, Week 14, Week 28

• Mitochondrial Respiration Efficiency (as Measured by ECAR).

  Mitochondrial respiration efficiency is measured here by the extracellular acidification rate (ECAR) which is measured in millipH per minute.

  Baseline, Week 14, Week 28

• Vitamin D Levels

  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.

  Baseline

• Pain (as Measured With NRS-11 for Current Pain Over the Past 24 Hours) of NF1 Patients

  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).

  Baseline, Week 14, Week 28

• Pain (as Measured With NRS-11 for Best Pain Over the Past 24 Hours) of NF1 Patients

  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).

  Baseline, Week 14, Week 28

• Pain (as Measured With NRS-11 for Worst Pain Over the Past 24 Hours) of NF1 Patients

  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).

  Baseline, Week 14, Week 28

• Fatigue (as Measured FACIT-F TOI) of NF1 Patients.

  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.

  Baseline, Week 14, Week 28

Study Arms (2)

NF1 Group

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

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

Control Group

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

Diagnostic Test: Blood draw

Interventions

Blood draw DIAGNOSTIC_TEST

• An additional 10 mL of blood will then be drawn for mitochondrial testing purposes.

Control Group; NF1 Group

FACIT-F and Pain Scales OTHER

• Questionnaires regarding pain and fatigue will be provided for the subject to review and answer.

NF1 Group

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• Diagnosed with NF1
• Not the first degree relative (biological parent, sibling, or child) of the NF1 patient who is in the NF1 group

Sponsors & Collaborators

• University of Arkansas: lead

Study Sites (1)

University of Arkansas For Medical Sciences

Little Rock, Arkansas, 72205, United States

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood samples will be collected from patients and controls during routine appointments.

MeSH Terms

Conditions

Neurofibromatosis 1

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Neurofibromatoses; Neurofibroma; Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Results Point of Contact

• Title: I-Shin Wen
• Organization: University of Arkansas for Medical Sciences

IWen@uams.edu

5016868274

Study Officials

• Erika Santos Horta, MD

  University of Arkansas

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 31, 2023
• First Posted: June 22, 2023
• Study Start: July 26, 2023
• Primary Completion: August 23, 2024
• Study Completion: August 23, 2024
• Last Updated: May 8, 2025
• Results First Posted: May 8, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)