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Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1

NCT ID: NCT05912400

Last Updated: 2025-05-08

Study Results

Results available

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Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

55 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-07-26

Study Completion Date

2024-08-23

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Neurofibromatosis 1

Study Design

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Observational Model Type

OTHER

Study Time Perspective

PROSPECTIVE

Study Groups

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NF1 Group

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

Blood draw

Intervention Type DIAGNOSTIC_TEST

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

FACIT-F and Pain Scales

Intervention Type OTHER

• 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.

Blood draw

Intervention Type DIAGNOSTIC_TEST

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

Interventions

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Blood draw

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

Intervention Type DIAGNOSTIC_TEST

FACIT-F and Pain Scales

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

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Diagnosed with NF1


* Not the first degree relative (biological parent, sibling, or child) of the NF1 patient who is in the NF1 group
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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University of Arkansas

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Erika Santos Horta, MD

Role: PRINCIPAL_INVESTIGATOR

University of Arkansas

Locations

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University of Arkansas For Medical Sciences

Little Rock, Arkansas, United States

Site Status

Countries

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United States

Provided Documents

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Document Type: Study Protocol and Statistical Analysis Plan

View Document

Other Identifiers

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274877

Identifier Type: -

Identifier Source: org_study_id

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