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Phase 2 N=1 Basic Science

Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni Syndrome

Cancer · Skin Fibroblasts · Muscle Weakness

Enrolled (actual)
1
Serious AEs
0.0%
Results posted
Dec 2020
Primary outcome: Primary: Change in PCr Recovery Tc Measurement From Baseline to 12 Week NR Supplementation Using the 31P-MRS Skeletal Muscle Submaximal Exercise. — 60; 73 Seconds

Study Design & Population

Study type
Interventional
Phase
Phase 2
Interventions
Nicotinamide Riboside (NR) (Dietary_supplement)
Age
Adult, Older Adult · 18+ yrs
Sex
All
Sponsor
National Heart, Lung, and Blood Institute (NHLBI)
Primary completion
Nov 2019

Outcome Measures

OutcomeResultp-value
PRIMARY
Change in PCr Recovery Tc Measurement From Baseline to 12 Week NR Supplementation Using the 31P-MRS Skeletal Muscle Submaximal Exercise.
60; 73
SECONDARY
Change in Time of CPET Time as a Measure of Exercise Tolerance From Baseline to 12 Weeks of NR Supplementation.
12.1; 11.68

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.

Eligibility Criteria

  • 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
View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT03789175). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.

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