Smooth Muscle Dysfunction Syndrome (SMDS)Phase 1NCT06280482
Nicotinamide Riboside (NR) to Treat Moyamoya-like Cerebrovascular Disease in Smooth Muscle Dysfunction Syndrome (SMDS)
A Phase 1 study testing Nicotinamide riboside (NR) in people with Smooth Muscle Dysfunction Syndrome (SMDS), run by The University of Texas Health Science Center, Houston at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Ages 1 year and older
- Conditions the study is for
- Smooth Muscle Dysfunction Syndrome (SMDS)
- What is being tested?
- Nicotinamide riboside (NR)
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 15 participants
- Where
- 1 siteUnited States
- Study dates
- 6 Mar 2024to 25 Jul 2027
- Phase
- Phase 1
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Individuals diagnosed with SMDS with confirmed ACTA2 mutation disrupting arginine 179
- Parental/guardian permission (informed consent) and, if appropriate, child assent.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
The University of Texas Health Science Center at Houston
Houston, Texas, 77030
Dianna Milewicz, MD, PhD, 713-500-6725, Dianna.M.Milewicz@uth.tmc.edu
David Murdock, MD, (713) 500-6735, David.R.Murdock@uth.tmc.edu
About this study
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.
- Being tested
- Nicotinamide riboside (NR)
- Keywords
- smooth muscle aortic alpha-actin (ACTA2), arginine 179 residue, Nicotinamide Riboside, Stroke, Cerebrovascular Disease, Thoracic Aortic Aneurysms and Dissections
- Medical subject headings
- Stroke, Cerebrovascular Disorders, Aortic Aneurysm, Thoracic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Nicotinamide riboside (NR)Drug
Participants will take their weight-based dose of NR once daily by mouth with food for 60 days.
| Study group | Role | What they receive |
|---|---|---|
| Treatment | Experimental | Not described Receives: Drug: Nicotinamide riboside (NR) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in systolic blood
Measured: 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.
Measured: Baseline , 8 weeks
Change in cognitive function as assessed by the NIH Toolbox assessment
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.
Measured: Baseline , 8 weeks
Change in autonomic symptoms as assessed by the Composite Autonomic Symptom Score 31 (COMPASS-31) survey
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.
Measured: Baseline , 8 weeks
Change in Impact of headaches as assessed by the Headache Impact Test (HIT-6) questionnaire
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.
Measured: Baseline, 8 weeks
Pulmonary function tests (PFTs), including spirometry and lung volume measurements
Measured: Baseline, 8 weeks
Change in Aortic diameter as assessed by the echocardiography
Measured: Baseline , 8 weeks
Secondary outcomes (5)
Change in Levels of Nicotinamide adenine dinucleotide (NAD+) in whole blood as measured by high-performance liquid chromatography (HPLC)
Measured: Baseline , 8 weeks
Change in Levels of NR in whole blood as measured by high-performance liquid chromatography (HPLC)
Measured: Baseline , 8 weeks
Safety as assessed by number of participants that show drug toxicity as shown in bloodwork
Measured: Baseline
Safety as assessed by number of participants that show drug toxicity as shown in bloodwork
Measured: end of study (8 weeks after baseline)
Tolerability as assessed by the number of patients who complete study
Measured: end of study( 8 weeks after baseline)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Feb 2024
- Study start6 Mar 2024
- Primary completion25 Jul 2027 (estimated)
- Study completion25 Jul 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Smooth Muscle Dysfunction Syndrome (SMDS)Studies of the same condition, open and under way.
- More trials run by The University of Texas Health Science Center, HoustonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 15 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Dianna M Milewicz, The University of Texas Health Science Center, Houston
- Investigators
- Dianna Milewicz, MD, PhD, Principal investigator, The University of Texas Health Science Center, Houston
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06280482
- Sponsor's protocol ID
- HSC-MS-23-0332
- Status last verified
- Sep 2025
- First submitted
- 19 Feb 2024
- Last updated
- 12 Sep 2025
- Results posted
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Nicotinamide Riboside (NR) to Treat Moyamoya-like Cerebrovascular Disease in Smooth Muscle Dysfunction Syndrome (SMDS)
- ClinicalTrials.gov ID
- NCT06280482
- Acronym / sponsor ID
- HSC-MS-23-0332
- Keywords
- smooth muscle aortic alpha-actin (ACTA2), arginine 179 residue, Nicotinamide Riboside, Stroke, Cerebrovascular Disease, Thoracic Aortic Aneurysms and Dissections
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 15 participants (estimated)
- Lead sponsor
- The University of Texas Health Science Center, HoustonUniversity, hospital or other
- Study start
- 6 Mar 2024 (actual)
- Primary completion
- 25 Jul 2027 (estimated)
- Study completion
- 25 Jul 2027 (estimated)
- First posted
- 28 Feb 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Treatment | Experimental | Drug: Nicotinamide riboside (NR) |
Who may qualify
- Ages
- 1 year and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (2 listed)
- Individuals diagnosed with SMDS with confirmed ACTA2 mutation disrupting arginine 179
- Parental/guardian permission (informed consent) and, if appropriate, child assent.
Key exclusion criteria (6 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Nicotinamide riboside (NR)Participants will take their weight-based dose of NR once daily by mouth with food for 60 days. | Drug | Treatment |
Primary outcome
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
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
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.
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.
Pulmonary function tests (PFTs), including spirometry and lung volume measurements
Time frame: Baseline, 8 weeks
Change in Aortic diameter as assessed by the echocardiography
Time frame: Baseline , 8 weeks
5 secondary outcomes
Change in Levels of Nicotinamide adenine dinucleotide (NAD+) in whole blood as measured by high-performance liquid chromatography (HPLC)
Time frame: Baseline , 8 weeks
Change in Levels of NR in whole blood as measured by high-performance liquid chromatography (HPLC)
Time frame: Baseline , 8 weeks
Safety as assessed by number of participants that show drug toxicity as shown in bloodwork
Time frame: Baseline
Safety as assessed by number of participants that show drug toxicity as shown in bloodwork
Time frame: end of study (8 weeks after baseline)
Tolerability as assessed by the number of patients who complete study
Time frame: end of study( 8 weeks after baseline)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Sep 2025.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Dianna Milewicz, MD, PhD principal investigator
The University of Texas Health Science Center, Houston
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing Nicotinamide riboside (NR) in people with Smooth Muscle Dysfunction Syndrome (SMDS), run by The University of Texas Health Science Center, Houston at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 12 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Dianna M Milewicz, MD, PhD ((713) 500-6725, Dianna.M.Milewicz@uth.tmc.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in systolic blood (time frame: Baseline , 8 weeks). The study lists 7 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Sep 2025.