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NCT Number: NCT06280482

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

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.

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Key information

Conditions

Smooth Muscle Dysfunction Syndrome (SMDS) Aneurysm Aortic Aneurysm Aortic Aneurysm, Thoracic Aortic Diseases Brain Diseases Cardiovascular Diseases Central Nervous System Diseases Cerebrovascular Disorders Nervous System Diseases Stroke Vascular Diseases

Age range

1 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 1

Primary location

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Nicotinamide riboside (NR)

Drug

Participants will take their weight-based dose of NR once daily by mouth with food for 60 days.

Primary outcomes

  1. Change in systolic blood

    Time frame: Baseline , 8 weeks

  2. 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

  3. Change in cognitive function as assessed by the NIH Toolbox assessment

    Time frame: Baseline , 8 weeks

    NIH Toolbox assessment evaluates multiple domains of cognitive performance including executive function, attention, episodic memory, language, processing speed, and working memory. Individual test scores are combined into a composite cognition score and reported as age-adjusted T-scores (mean = 50, SD = 10), where higher scores indicate better cognitive function.

  4. Change in autonomic symptoms as assessed by the Composite Autonomic Symptom Score 31 (COMPASS-31) survey

    Time frame: Baseline , 8 weeks

    This is a 31 item questionnaire and each is scored from 0 (no symptoms) to 100(maximum symptom burden), with higher scores indicating more severe autonomic dysfunction.

  5. Change in Impact of headaches as assessed by the Headache Impact Test (HIT-6) questionnaire

    Time frame: Baseline, 8 weeks

    HIT-6 questionnaire consists of 6 questions, each scored from 6(never) to 13(always), with total scores ranging from 36 to 78. Higher scores indicate a greater impact of headaches on quality of life.

  6. Pulmonary function tests (PFTs), including spirometry and lung volume measurements

    Time frame: Baseline, 8 weeks

  7. Change in Aortic diameter as assessed by the echocardiography

    Time frame: Baseline , 8 weeks

Secondary outcomes

  1. Change in Levels of Nicotinamide adenine dinucleotide (NAD+) in whole blood as measured by high-performance liquid chromatography (HPLC)

    Time frame: Baseline , 8 weeks

  2. Change in Levels of NR in whole blood as measured by high-performance liquid chromatography (HPLC)

    Time frame: Baseline , 8 weeks

  3. Safety as assessed by number of participants that show drug toxicity as shown in bloodwork

    Time frame: Baseline

  4. Safety as assessed by number of participants that show drug toxicity as shown in bloodwork

    Time frame: end of study (8 weeks after baseline)

  5. Tolerability as assessed by the number of patients who complete study

    Time frame: end of study( 8 weeks after baseline)

Study contacts

Contact information is provided by the study sponsor or research team.

David R Murdock, MD

CONTACT

[email protected]

(713) 500-6735

Dianna M Milewicz, MD, PhD

CONTACT

[email protected]

(713) 500-6725

Sponsors and collaborators

Lead sponsor

The University of Texas Health Science Center, Houston

Other

Registry information

Important dates

Study start
2024
Primary completion
2027
Study completion
2027
First posted
Feb 28, 2024
Registry last updated
Sep 12, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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