Nicotinamide Riboside (NR) to Treat Moyamoya-like Cerebrovascular Disease in Smooth Muscle Dysfunction Syndrome (SMDS)

What Was Tested

This registered phase 1 trial tested NAD+ for muscle disease (myopathy).

It had 1 arm (groups): Treatment (experimental).

The registry classes the interventions as drug.

Who Took Part

15 planned participants were the target.

It was open to people of any sex aged from 1 Year with no upper age limit.

Healthy volunteers were not accepted; participants needed the condition being studied.

Examples of who could join: Individuals diagnosed with SMDS with confirmed ACTA2 mutation disrupting arginine 179. Parental/guardian permission (informed consent) and, if appropriate, child assent.

The full record lists 2 inclusion and 6 exclusion criteria; among the exclusions: 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.

How the Study Was Run

It was run as a single-group and open-label study.

Everyone knew when NAD+ was being given (open label), which is simpler to run but leaves more room for expectations to affect what is reported.

Everyone received the same intervention, so there was no separate comparison group inside the trial.

It started in 2024-03-06 with completion listed for 2027-07-25.

It ran at 1 site in United States.

Its stated primary purpose is treatment.

What Was Measured

Researchers chose this as the main measure: Change in systolic blood (time frame: Baseline , 8 weeks). Change in cerebral oxygenation and perfusion as assessed by the Head-up tilt table testing (HUTT) with near-infrared spectroscopy (NIRS) monitoring (time frame: Baseline , 8 weeks). Change in cognitive function as assessed by the NIH Toolbox assessment (time frame: Baseline , 8 weeks).

It also tracked 5 secondary outcomes, for example Change in Levels of Nicotinamide adenine dinucleotide (NAD+) in whole blood as measured by high-performance liquid chromatography (HPLC), Change in Levels of NR in whole blood as measured by high-performance liquid chromatography (HPLC) and Tolerability as assessed by the number of patients who complete study.

What This Means in Plain Language

Put simply, this is a phase 1 trial of NAD+ in 15 people with muscle disease (myopathy).

Its size is small, so on its own it can only give an early look.

It is still recruiting; no results are posted to the registry yet, so nothing here describes outcomes.

More context: the NAD+ compound page, Muscle disease (myopathy) research.