Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. |
ClinicalTrials.gov Identifier: NCT05912400 |
Recruitment Status :
Recruiting
First Posted : June 22, 2023
Last Update Posted : August 25, 2023
|
Sponsor:
University of Arkansas
Information provided by (Responsible Party):
University of Arkansas
Tracking Information | |||||||||
---|---|---|---|---|---|---|---|---|---|
First Submitted Date | May 31, 2023 | ||||||||
First Posted Date | June 22, 2023 | ||||||||
Last Update Posted Date | August 25, 2023 | ||||||||
Actual Study Start Date | July 26, 2023 | ||||||||
Estimated Primary Completion Date | July 2025 (Final data collection date for primary outcome measure) | ||||||||
Current Primary Outcome Measures |
|
||||||||
Original Primary Outcome Measures | Same as current | ||||||||
Change History | |||||||||
Current Secondary Outcome Measures | Not Provided | ||||||||
Original Secondary Outcome Measures | Not Provided | ||||||||
Current Other Pre-specified Outcome Measures | Not Provided | ||||||||
Original Other Pre-specified Outcome Measures | Not Provided | ||||||||
Descriptive Information | |||||||||
Brief Title | Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1 | ||||||||
Official Title | Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 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. | ||||||||
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 Type | Observational | ||||||||
Study Design | Observational Model: Case-Control Time Perspective: Prospective |
||||||||
Target Follow-Up Duration | Not Provided | ||||||||
Biospecimen | Retention: Samples Without DNA Description: Blood samples will be collected from patients and controls during routine appointments.
|
||||||||
Sampling Method | Non-Probability Sample | ||||||||
Study Population |
|
||||||||
Condition | Neurofibromatosis 1 | ||||||||
Intervention |
|
||||||||
Study Groups/Cohorts |
|
||||||||
Publications * | Not Provided | ||||||||
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
|||||||||
Recruitment Information | |||||||||
Recruitment Status | Recruiting | ||||||||
Estimated Enrollment |
60 | ||||||||
Original Estimated Enrollment | Same as current | ||||||||
Estimated Study Completion Date | July 2026 | ||||||||
Estimated Primary Completion Date | July 2025 (Final data collection date for primary outcome measure) | ||||||||
Eligibility Criteria | NF1 Group: Inclusion Criteria:
Inclusion Criteria:
|
||||||||
Sex/Gender |
|
||||||||
Ages | 18 Years and older (Adult, Older Adult) | ||||||||
Accepts Healthy Volunteers | Yes | ||||||||
Contacts |
|
||||||||
Listed Location Countries | United States | ||||||||
Removed Location Countries | |||||||||
Administrative Information | |||||||||
NCT Number | NCT05912400 | ||||||||
Other Study ID Numbers | 274877 | ||||||||
Has Data Monitoring Committee | No | ||||||||
U.S. FDA-regulated Product |
|
||||||||
IPD Sharing Statement |
|
||||||||
Current Responsible Party | University of Arkansas | ||||||||
Original Responsible Party | Same as current | ||||||||
Current Study Sponsor | University of Arkansas | ||||||||
Original Study Sponsor | Same as current | ||||||||
Collaborators | Not Provided | ||||||||
Investigators |
|
||||||||
PRS Account | University of Arkansas | ||||||||
Verification Date | August 2023 |