Nicotinamide Riboside (NR) to Treat Moyamoya-like Cerebrovascular Disease in Smooth Muscle Dysfunction Syndrome (SMDS)
试验速览
- 阶段
- 1 期
- 状态
- 招募中
- 入组人数
- 15
- 试验地点
- 1
- 主要终点
- Change in systolic blood
研究概览
简要总结
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 1 Year 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Individuals diagnosed with SMDS with confirmed ACTA2 mutation disrupting arginine 179
- •Parental/guardian permission (informed consent) and, if appropriate, child assent.
排除标准
- •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.
研究组 & 干预措施
Treatment
干预措施: Nicotinamide riboside (NR) (Drug)
结局指标
主要结局
Change in systolic blood
时间窗: 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.
时间窗: Baseline , 8 weeks
Change in cognitive function as assessed by the NIH Toolbox assessment
时间窗: 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
时间窗: 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
时间窗: 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
时间窗: Baseline, 8 weeks
Change in Aortic diameter as assessed by the echocardiography
时间窗: Baseline , 8 weeks
次要结局
- 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))
研究者
Dianna M Milewicz
Professor
The University of Texas Health Science Center, Houston