Using Nicotinamide Riboside to Treat Smooth Muscle Dysfunction Syndrome

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

This study is testing if Nicotinamide Riboside can help people with Smooth Muscle Dysfunction Syndrome and a specific genetic mutation by looking at its effects on glucose levels and safety.

Quick facts

• Phase: PHASE1
• Study type: Interventional
• Enrollment: 15 (estimated)
• Ages: 1 Year and up
• Sex: All
• Sponsor: The University of Texas Health Science Center, Houston (other)
• Locations: 1 site (Houston, Texas)
• Trial ID: NCT06280482 on ClinicalTrials.gov

What this trial studies

This study aims to evaluate the effects of Nicotinamide Riboside (NR) on patients diagnosed with Smooth Muscle Dysfunction Syndrome (SMDS) who have a specific genetic mutation. The research will assess whether NR treatment can lead to decreased glucose uptake in the aorta and measurable changes in blood levels of NAD+ and NR. Additionally, the study will monitor the stability of aortic measurements post-treatment and evaluate the safety and tolerability of NR in this patient population.

Who should consider this trial

Good fit: Ideal candidates for this study are patients with Smooth Muscle Dysfunction Syndrome who have a confirmed ACTA2 mutation and meet specific inclusion criteria.

Not a fit: Patients who have undergone aortic surgery or have other medical conditions that impair their ability to participate may not benefit from this study.

Why it matters

Potential benefit: If successful, this treatment could improve vascular health and reduce the risk of cerebrovascular events in patients with SMDS.

How similar studies have performed: While there is limited data on the specific use of NR for SMDS, similar approaches targeting metabolic pathways have shown promise in other cerebrovascular conditions.

Eligibility criteria

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.

Where this trial is running

Houston, Texas

• The University of Texas Health Science Center at Houston — Houston, Texas, United States (RECRUITING)

Study contacts

• Principal investigator: Dianna Milewicz, MD, PhD — The University of Texas Health Science Center, Houston
• Study coordinator: Dianna M Milewicz, MD, PhD

Conditions: Smooth Muscle Dysfunction Syndrome, smooth muscle aortic alpha-actin, arginine 179 residue, Nicotinamide Riboside, Stroke, Cerebrovascular Disease, Thoracic Aortic Aneurysms and Dissections