This study is NOT currently recruiting participants.
Number
19-H-0034
Sponsoring Institute
National Heart, Lung and Blood Institute (NHLBI)
Recruitment Detail
Type: Completed Study; data analyses ongoing Gender: Male & Female Min Age: 18 Max Age: 70
Referral Letter Required
No
Population Exclusion(s)
Children
Keywords
Oxidative Phosphorylation Capacity; Increased Oxidative Metabolism; Regeneration of Phosphocreatine( PCr); Inherited Mutation of TP53 Tumor Suppressor Gene
Recruitment Keyword(s)
None
Condition(s)
Cancer; Skin Fibroblasts; Muscle Weakness
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Dietary Supplement: Nicotinamide Riboside (NR)
Supporting Site
National Heart, Lung, and Blood Institute
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The participant will be withdrawn from the study if they become pregnant.
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INCLUSION CRITERIA: -At least 18-years of age and able to give informed consent -Have delayed phosphocreatine (PCr) recovery time constant >45 sec by 31P-MRS testing and a history of fatigue symptoms -Ability to undergo study procedures, including scheduled visits, blood draws and skeletal muscle exercise NMR spectroscopy -Have Li-Fraumeni syndrome and confirmed TP53 mutation by genetic testing -Committed to using reliable contraception which may include abstinence during study participation -Female participants of child-bearing ability and potential willing to commit to reliable contraception while participating in the study EXCLUSION CRITERIA: -Current systemic treatment for cancer -Unable to perform required study visits or procedures -MRI incompatible hardware -Pregnant or breastfeeding women -History of intolerance to NR precursor compounds, including niacin or nicotinamide
-At least 18-years of age and able to give informed consent
-Have delayed phosphocreatine (PCr) recovery time constant >45 sec by 31P-MRS testing and a history of fatigue symptoms
-Ability to undergo study procedures, including scheduled visits, blood draws and skeletal muscle exercise NMR spectroscopy
-Have Li-Fraumeni syndrome and confirmed TP53 mutation by genetic testing
-Committed to using reliable contraception which may include abstinence during study participation
-Female participants of child-bearing ability and potential willing to commit to reliable contraception while participating in the study
EXCLUSION CRITERIA:
-Current systemic treatment for cancer
-Unable to perform required study visits or procedures
-MRI incompatible hardware
-Pregnant or breastfeeding women
-History of intolerance to NR precursor compounds, including niacin or nicotinamide
Principal Investigator
Referral Contact
For more information: