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

Phase 1

Recruiting

• Conditions: Smooth Muscle Dysfunction Syndrome (SMDS)
• Interventions: Drug: Nicotinamide riboside (NR)

• Registration Number: NCT06280482
• Lead Sponsor: The University of Texas Health Science Center, Houston

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2024-02-19
• Study First Submitted QC: 2024-02-19
• Study First Posted: 2024-02-28
• Study Start: 2024-03-06
• Status Verified: 2025-09
• Last Update Submitted: 2025-09-05
• Last Update Posted: 2025-09-12
• Primary Completion: 2027-07-25
• Study Completion: 2027-07-25

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 15

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Treatment	Nicotinamide riboside (NR)	-

Primary Outcome Measures

Name	Time	Method
Change in systolic blood	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.	Baseline , 8 weeks
Change in cognitive function as assessed by the NIH Toolbox assessment	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.
Change in autonomic symptoms as assessed by the Composite Autonomic Symptom Score 31 (COMPASS-31) survey	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.
Change in Impact of headaches as assessed by the Headache Impact Test (HIT-6) questionnaire	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.
Pulmonary function tests (PFTs), including spirometry and lung volume measurements	Baseline, 8 weeks
Change in Aortic diameter as assessed by the echocardiography	Baseline , 8 weeks

Secondary Outcome Measures

Name	Time	Method
Change in Levels of Nicotinamide adenine dinucleotide (NAD+) in whole blood as measured by high-performance liquid chromatography (HPLC)	Baseline , 8 weeks
Change in Levels of NR in whole blood as measured by high-performance liquid chromatography (HPLC)	Baseline , 8 weeks
Safety as assessed by number of participants that show drug toxicity as shown in bloodwork	end of study (8 weeks after baseline)
Tolerability as assessed by the number of patients who complete study	end of study( 8 weeks after baseline)

Trial Locations

Locations (1)

The University of Texas Health Science Center at Houston; 🇺🇸 Houston, Texas, United States