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Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1

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ClinicalTrials.gov Identifier: NCT05912400
Recruitment Status : Recruiting
First Posted : June 22, 2023
Last Update Posted : August 25, 2023
Sponsor:
Information provided by (Responsible Party):
University of Arkansas

Study Description
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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.

Condition or disease Intervention/treatment
Neurofibromatosis 1 Diagnostic Test: Blood draw Other: FACIT-F and Pain Scales

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.
Study Design
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Study Type : Observational
Estimated Enrollment : 60 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1
Actual Study Start Date : July 26, 2023
Estimated Primary Completion Date : July 2025
Estimated Study Completion Date : July 2026

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Neurofibromatosis

Groups and Cohorts
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Group/Cohort Intervention/treatment
NF1 Group
This study will look to enroll 40 to 45 adults over 18 years old diagnosed with NF1.
 Diagnostic Test: Blood draw
• An additional 10 mL of blood will then be drawn for mitochondrial testing purposes.

Other: FACIT-F and Pain Scales
• Questionnaires regarding pain and fatigue will be provided for the subject to review and answer.
Control Group
This study will look to enroll 10 to 15 adults over 18 years old without NF1.
 Diagnostic Test: Blood draw
• An additional 10 mL of blood will then be drawn for mitochondrial testing purposes.


Outcome Measures
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Primary Outcome Measures :
  1. Demonstrate that mitochondrial respiration efficiency of PBMCs inversely correlates with clinical symptoms of NF1 patients. [ Time Frame: 1 year ]
    Mitochondrial function and cellular bioenergetics will be measured in PBMCs and platelets isolated from blood. Clinical repercussions of MD in NF1 will be measured through serial scores of fatigue and pain on the same days that PBMC and platelets are collected. Fatigue will be assessed through the Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-F).

  2. Measure the change over time of therapeutic interventions impact on mitochondrial function and metabolic plasticity of circulating cells of NF1 patients. [ Time Frame: Completed at each of the 3 total visits required by the study. Each visit will occur at 14 weeks (+/- 2 weeks) ]
    The NF1 and healthy control groups' mitochondrial function and metabolic plasticity parameters will be compared in addition to longitudinal changes in these parameters for each NF1 patient. Linear regression analysis will be utilized to establish the relationship between coupling efficiency, respiratory capacity (ATP-linked, reserve capacity etc.) as well as metabolic plasticity and NF1 clinical phenotype and biochemical scores for fatigue, pain, CK, cardiac function, BMI, and liver function. Analysis of variance for repeated measures will also be used to analyze changes in these parameters over time by each group (NF1 patients before and after Vitamin D and/or KOS administration).


Biospecimen Retention:   Samples Without DNA
Blood samples will be collected from patients and controls during routine appointments.

Eligibility Criteria
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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.
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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05912400


Contacts
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Contact: Aaron Holley 501-686-8274 jaholley@uams.edu
Contact: Beth Scanlan 501-686-8274 bscanlan@uams.edu

Locations
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United States, Arkansas
University of Arkansas For Medical Sciences Recruiting
Little Rock, Arkansas, United States, 72205
Principal Investigator: Erika Santos Horta, MD         
Sponsors and Collaborators
University of Arkansas
Investigators
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Principal Investigator: Erika Santos Horta, MD University of Arkansas
More Information
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Responsible Party: University of Arkansas
ClinicalTrials.gov Identifier: NCT05912400    
Other Study ID Numbers: 274877
First Posted: June 22, 2023    Key Record Dates
Last Update Posted: August 25, 2023
Last Verified: August 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Neurofibromatoses
Neurofibromatosis 1
Neurofibroma
Mitochondrial Diseases
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
Genetic Diseases, Inborn
Peripheral Nervous System Diseases
Neuromuscular Diseases
Peripheral Nervous System Neoplasms
Nervous System Neoplasms
Metabolic Diseases