At a glance
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Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1
In Brief
An observational study evaluating Blood draw and FACIT-F and Pain Scales for Neurofibromatosis 1. Completed, enrolled 55 participants across 1 site.
Detailed 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.
Study Details
Timeline
Interventions
• An additional 10 mL of blood will then be drawn for mitochondrial testing purposes.
• Questionnaires regarding pain and fatigue will be provided for the subject to review and answer.