Evaluating a Vitamin B3 Derivative for Mitochondrial Myopathy Treatment

Randomized, Double-blinded, Placebo-controlled Study Evaluating the Efficacy of Nicotinamide Riboside (NR) - a Vitamin B3 Derivative - for Treatment of Mitochondrial Myopathy Disorder

This study is testing if a Vitamin B3 supplement can help adults with mitochondrial myopathy feel better.

Quick facts

• Phase: Phase 2
• Study type: Interventional
• Enrollment: 34 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: Mayo Clinic (Academic / other)
• Locations: 1 site (Rochester, Minnesota)
• Trial ID: NCT05590468 on ClinicalTrials.gov

What this trial studies

This study aims to assess the effects of Nicotinamide Riboside (NR), a derivative of Vitamin B3, on adult-onset symptoms of mitochondrial myopathy. Participants will be randomly assigned to receive either the NR supplement or a placebo. The study will include individuals with biochemically or genetically confirmed mitochondrial myopathy, ensuring a targeted approach to treatment. The goal is to determine if NR can improve symptoms associated with this condition.

Who should consider this trial

Good fit: Ideal candidates are adults with biochemically or genetically confirmed mitochondrial myopathy.

Not a fit: Patients who are unwilling to comply with follow-up schedules or cannot provide informed consent may not benefit from this study.

Why it matters

Potential benefit: If successful, this treatment could provide a new therapeutic option for patients suffering from mitochondrial myopathy.

How similar studies have performed: While there is ongoing interest in Vitamin B3 derivatives for mitochondrial disorders, this specific approach is relatively novel and has not been extensively tested in prior studies.

Eligibility criteria

Inclusion Criteria:

* 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.

Exclusion Criteria:

* 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:

* 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.

Where this trial is running

Rochester, Minnesota

• Mayo Clinic in Rochester — Rochester, Minnesota, United States (Recruiting)

Study contacts

• Principal investigator: Ralitza H. Gavrilova, MD — Mayo Clinic
• Study coordinator: Alexandra Miller

Conditions Mitochondrial Myopathy