CompletedPhase 1/2

Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni Syndrome

United States1 participantsStarted 2019-03-25

Plain-language summary

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 The participant will be withdrawn from the study if they become pregnant.

Who can participate

Age range

18 Years – 70 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

* 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-magnetic resonance spectroscopy (MRS) testing and a history of fatigue symptoms * Ability to undergo study procedures, including scheduled visits, blood draws and skeletal muscle exercise Nuclear Magnetic Resonance (NMR) * 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 * Magnetic resonance imaging (MRI) incompatible hardware * Pregnant or breastfeeding women * History of intolerance to NR precursor compounds, including niacin or nicotinamide

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Change in PCr Recovery Tc Measurement From Baseline to 12 Week NR Supplementation Using the 31P-MRS Skeletal Muscle Submaximal Exercise.

Timeframe: Baseline to 12 weeks

Trial details

NCT IDNCT03789175

SponsorNational Heart, Lung, and Blood Institute (NHLBI)

Sponsor typeNIH

Study typeINTERVENTIONAL

Primary completion2019-11-01

Results submitted2020-10-14

View on ClinicalTrials.gov More Cancer trials