Mitochondrial MyopathyPhase 2NCT05590468
A Study to Evaluate Vitamin B3 Derivative to Treat Mitochondrial Myopathy
A Phase 2 study testing Nicotinamide Riboside in people with Mitochondrial Myopathy, run by Ralitza Gavrilova at 1 site in United States.
Trial summary
The purpose of this study is to determine the effects of Nicotinamide Riboside (NR) supplement in adult-onset symptoms of mitochondrial myopathy. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Mitochondrial Myopathy
- What is being tested?
- Nicotinamide Riboside
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 34 participants
- Where
- 1 siteUnited States
- Study dates
- 26 May 2023to Nov 2026
- Phase
- Phase 2
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Biochemically and/or genetically confirmed or confirmed primary mitochondrial myopathy based on published diagnostic criteria.
- Biochemically confirmed mitochondrial disorder would mean that the patient meets clinical criteria and has either biopsy or biochemical testing that supports the diagnosis.
- Confirmed mitochondrial disorder means that the patient meets published clinical criteria for the diagnosis and has also had confirmatory genetic testing for the disorder type.
- Agreed to avoid vitamin supplementation or nutritional products with vitamin B3 forms 14 days prior to the enrollment and during the study in order to not exceed 200 mg/day of vitamin B3 derivatives intake.
- Female of childbearing potential agreed to use effective contraception throughout the study.
- Written, informed consent to participate in the study.
Who cannot join
- Unwilling to comply with the follow-up schedule.
- Inability or refusal to give informed consent by the patient or a legally authorized representative.
- Known pregnancy or breastfeeding.
- Concurrent participation in another investigational drug study or within washout period of treatment.
- Presence of other medical symptoms or condition, which may interfere with interpretation of outcome measures as determined by the study PI.
- Clinical / Laboratory Exclusion Criteria:
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- Estimated Glomerular Filtration Rate (eGFR) < 30 mL/min.
- Patients in permanent Renal Replacement Therapy.
- Serum alkaline phosphatase 50% above normal limit.
- Serum aspartate transaminase 50% above normal limit.
- Serum Thyroxine (T4) 50% above or below normal limit.
- Serum Thyroid Stimulating Hormone (TSH) 50% above or below normal limit.
- Severe anemia with Hb < 7g/dL.
- Severe leukocytosis with WBC > 15,000/mm^3.
Trial locations and contacts
1 site in 1 country.
United States1 site
Mayo Clinic in Rochester
Rochester, Minnesota, 55905
About this study
Official title: Randomized, Double-blinded, Placebo-controlled Study Evaluating the Efficacy of Nicotinamide Riboside (NR) - a Vitamin B3 Derivative - for Treatment of Mitochondrial Myopathy Disorder
The purpose of this study is to determine the effects of Nicotinamide Riboside (NR) supplement in adult-onset symptoms of mitochondrial myopathy.
- Conditions
- Mitochondrial Myopathy
- Being tested
- Nicotinamide Riboside, Placebo
- Medical subject headings
- Mitochondrial Myopathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Nicotinamide RibosideDietary supplement
Vitamin B3 derivative; a total of 1000 mg/day in a regimen of 500mg every 12 hours by mouth (either fasting or fed)
PlaceboDrug
Looks exactly like the study drug, but it contains no active ingredient
| Study group | Role | What they receive |
|---|---|---|
| Nicotinamide Riboside treatment group | Experimental | Subjects will receive vitamin B3 derivative Nicotinamide Riboside (NR) daily for 12 months Receives: Dietary Supplement: Nicotinamide Riboside |
| Placebo Group | Placebo comparator | Subjects will receive a placebo daily for 12 months Receives: Drug: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
Changes in 6-Minute Walk Test Performance
The 6-minute walk test (6MWT) quantifies the distance a person can walk in six minutes. Measured in meters.
Measured: Baseline, 6 months, 12 months
Secondary outcomes (5)
Change in skeletal muscle function
Measured using the Short Physical Performance Battery (SPPB) score based on timed measures of standing balance, walking speed and ability to rise from a chair. Each of the 3 performance measures will be assigned a score ranging from 0 to 4, with 4 indicating the highest level of performance and 0 the inability to complete the test. A summary score (range 0-12) will be subsequently calculated by adding the 3 scores.
Measured: Baseline, 6 months, 12 months
Change in skeletal muscle strength
Measured using the strength one repetition maximum (1RM leg press) defined as the maximal weight an individual can lift for only one repetition with correct technique.
Measured: Baseline, 6 months, 12 months
Change in isometric strength of trunk flexors
Assessed by generated maximum force against a stationary dynamometer reported in kilograms of force. Trunk flexion strength tested in the supine position with knees slightly bent, arms at side and head in midline. The base of the dynamometer will be placed on the middle of the sternum and the patient will be instructed to exert isometric force by lifting both scapula off the plinth.
Measured: Baseline, 6 months, 12 months
Change in isometric strength of trunk extensor muscle
Assessed by generated maximum force against a stationary dynamometer reported in kilograms of force. Trunk extensor muscle strength tested in prone position. The base of the dynamometer will be placed at the level of the T4 spine and the patient instructed to generate an isometric force by lifting the chest off the plinth. After sufficient practice in the standardized positions, 5 trials will be recorded in each position.
Measured: Baseline, 6 months, 12 months
Change in maximal oxygen uptake (VO2 max)
Maximal oxygen uptake (VO2 max) test measures the maximum rate of oxygen consumption during incremental exercise (exercise of increasing intensity) and reflects the cardiorespiratory fitness of an individual. Reported in ml/kg/min.
Measured: Baseline, 6 months, 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Oct 2022
- Study start26 May 2023
- Primary completionNov 2026 (estimated)
- Study completionNov 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mitochondrial MyopathyStudies of the same condition, open and under way.
- 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 2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Double blind
- Who is masked
- Participant, Investigator
- Enrolment
- 34 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Ralitza Gavrilova
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Ralitza Gavrilova, Mayo Clinic
- Investigators
- Ralitza H. Gavrilova, MD, Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05590468
- Sponsor's protocol ID
- 21-005125
- Status last verified
- Jan 2026
- First submitted
- 19 Oct 2022
- Last updated
- 26 Jan 2026
- Results posted
- No
- Data monitoring committee
- 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 26 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Randomized, Double-blinded, Placebo-controlled Study Evaluating the Efficacy of Nicotinamide Riboside (NR) - a Vitamin B3 Derivative - for Treatment of Mitochondrial Myopathy Disorder
- ClinicalTrials.gov ID
- NCT05590468
- Acronym / sponsor ID
- 21-005125
- Conditions
- Mitochondrial Myopathy
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 34 participants (estimated)
- Lead sponsor
- Ralitza GavrilovaUniversity, hospital or other
- Study start
- 26 May 2023 (actual)
- Primary completion
- Nov 2026 (estimated)
- Study completion
- Nov 2026 (estimated)
- First posted
- 21 Oct 2022 (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 the effects of Nicotinamide Riboside (NR) supplement in adult-onset symptoms of mitochondrial myopathy.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Double blind (participant, investigator)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Nicotinamide Riboside treatment group | Experimental | Dietary Supplement: Nicotinamide RibosideSubjects will receive vitamin B3 derivative Nicotinamide Riboside (NR) daily for 12 months |
| Placebo Group | Placebo comparator | Drug: PlaceboSubjects will receive a placebo daily for 12 months |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- Biochemically and/or genetically confirmed or confirmed primary mitochondrial myopathy based on published diagnostic criteria.
- Biochemically confirmed mitochondrial disorder would mean that the patient meets clinical criteria and has either biopsy or biochemical testing that supports the diagnosis.
- Confirmed mitochondrial disorder means that the patient meets published clinical criteria for the diagnosis and has also had confirmatory genetic testing for the disorder type.
- Agreed to avoid vitamin supplementation or nutritional products with vitamin B3 forms 14 days prior to the enrollment and during the study in order to not exceed 200 mg/day of vitamin B3 derivatives intake.
- Female of childbearing potential agreed to use effective contraception throughout the study.
Key exclusion criteria (14 listed)
- Unwilling to comply with the follow-up schedule.
- Inability or refusal to give informed consent by the patient or a legally authorized representative.
- Known pregnancy or breastfeeding.
- Concurrent participation in another investigational drug study or within washout period of treatment.
- Presence of other medical symptoms or condition, which may interfere with interpretation of outcome measures as determined by the study PI.
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 RibosideVitamin B3 derivative; a total of 1000 mg/day in a regimen of 500mg every 12 hours by mouth (either fasting or fed) | Dietary supplement | Nicotinamide Riboside treatment group |
| PlaceboLooks exactly like the study drug, but it contains no active ingredient | Drug | Placebo Group |
Primary outcome
Changes in 6-Minute Walk Test Performance
Time frame: Baseline, 6 months, 12 months
The 6-minute walk test (6MWT) quantifies the distance a person can walk in six minutes. Measured in meters.
5 secondary outcomes
Change in skeletal muscle function
Time frame: Baseline, 6 months, 12 months
Change in skeletal muscle strength
Time frame: Baseline, 6 months, 12 months
Change in isometric strength of trunk flexors
Time frame: Baseline, 6 months, 12 months
Change in isometric strength of trunk extensor muscle
Time frame: Baseline, 6 months, 12 months
Change in maximal oxygen uptake (VO2 max)
Time frame: Baseline, 6 months, 12 months
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 26 Jan 2026.
- Individual participant dataSharing planned: No
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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. This study is not recruiting at the moment.
Ralitza H. Gavrilova, MD principal investigator
Mayo Clinic
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Nicotinamide Riboside in people with Mitochondrial Myopathy, run by Ralitza Gavrilova 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 6 inclusion and 14 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: under way, not looking for participants, as of the sponsor's last update on 26 Jan 2026. 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. Some participants in this study may receive a placebo. 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 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Changes in 6-Minute Walk Test Performance (time frame: Baseline, 6 months, 12 months). 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 26 Jan 2026.