Clinical trial · Interventional
Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni Syndrome
Exploratory Study of Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni Syndrome
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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 The participant will be withdrawn from the study if they become pregnant.
Conditions
Conditions (3)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cancer | Malignant Neoplasm | ALIAS | 0.90 |
| Muscle Weakness | — | UNRESOLVED | — |
| Skin Fibroblasts | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Nicotinamide Riboside (NR) | Dietary Supplement | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- type
- OTHER
- label
- Nicotinamide riboside (NR) in Li-Fraumeni syndrome
- description
- Nicotinamide riboside (NR) to be initiated at week 0 at dose of 250 mg twice a day. At Week 1, NR will be titrated to 500 mg twice a day. At Week 6, NR will be titrated to 750 mg twice a day. At Week 7, NR will be titrated to 1000 mg twice a day or as tolerated until end of week 12. At week 12, if participant responds to primary endpoint, participant will washout of NR at week 18 then restart NR at week 24 until week 30. If there is not response to NR treatment at week 12, the participant may continue taking NR at a tolerated dose until week 24 and the primary endpoint will be re-measured. If participant has a positive response to NR treatment at week 24, then the participant will washout of NR until week 30, at which time the primary endpoint will be re-measured to ensure return to baseline. If there is no response to continued NR treatment at week 24, the study will be ended.
- interventionNames
- Dietary Supplement: Nicotinamide Riboside (NR)
Primary outcomes (1)
- measure
- 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
- description
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
- Maximum age
- 70 Years
Show eligibility criteria text
* 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
References
Publications (0)
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