Skin Fibroblasts clinical trials

Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni Syndrome

Background: Nicotinamide riboside (NR) is a vitamin B3 dietary supplement. It may help improve muscle function, that may in turn may improve a person s exercise capacity. Researchers want to study how skeletal muscle responds to NR in an individual who has Li-Fraumeni Syndrome and slow muscle energy recovery after exercise. Objective: To study how nicotinamide riboside affects skeletal muscle after exercise. Eligibility: One person at least 18 years old with Li-Fraumeni syndrome and a certain gene mutation Design: The participant will be screened with a medical history, physical exam, and blood and urine tests. The participant may also have a heart test. The participant will maintain their regular diet and supplements during the study. The participant will take the study drug as 1-4 tablets twice a day for 12 weeks. The participant may be contacted with reminders and questions about side effects. The participant will have 4-5 visits over 18-30 weeks. At visits, the participant will repeat screening tests. At some visits they will also have: - Ultrasound of the heart with a wand placed on the chest. - Test of oxygen used at rest and exercise, while wearing a face mask. - Exercise test on a treadmill or bicycle with electrodes on the skin. - Magnetic resonance spectroscopy. The participant will have no caffeine for 12 hours. Then they will lie in a machine for about 2 hours. Sometimes they will lie still. Sometimes they will be asked to move. Health questionnaire The participant may have a skin sample taken by needle. The participant will be withdrawn from the study if they become pregnant.