Overview
The purpose of this study is to determine whether SMDS patients treated with NR at the proposed dose exhibit decreased glucose uptake in the aorta, to determine if NR treatment results in measurable changes of blood NAD+ and NR levels, to determine if aortic measurements are stable after treatment with NR and to evaluate the safety and tolerability of NR in SMDS patients.
Eligibility
Inclusion Criteria:
- Individuals diagnosed with SMDS with confirmed ACTA2 mutation disrupting arginine 179
- Parental/guardian permission (informed consent) and, if appropriate, child assent.
Exclusion Criteria:
- Individuals who have undergone surgery to replace aneurysmal or dissected ascending and root aortic tissue with a graft.
- Additional medical conditions that impair the patient's ability to participate in the study.
- Known allergy or sensitivity to niacin or nicotinamide riboside.
- Prior consumption of niacin or nicotinamide riboside supplement within the prior eight weeks.
- Failure to provide informed consent.
- Concurrent participation in another intervention trial.
