A Study to Evaluate Vitamin B3 Derivative to Treat Mitochondrial Myopathy

NCT ID: NCT05590468

Last Updated: 2026-01-26

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Clinical Phase: PHASE2
• Total Enrollment: 34 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2023-05-26
• Study Completion Date: 2026-11-30

Brief Summary

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

Study Design

• Allocation Method: RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: TREATMENT
• Blinding Strategy: DOUBLE

Study Groups

Nicotinamide Riboside treatment group

Subjects will receive vitamin B3 derivative Nicotinamide Riboside (NR) daily for 12 months

Group Type: EXPERIMENTAL

Nicotinamide Riboside

Intervention Type: DIETARY_SUPPLEMENT

Vitamin B3 derivative; a total of 1000 mg/day in a regimen of 500mg every 12 hours by mouth (either fasting or fed)

Placebo Group

Subjects will receive a placebo daily for 12 months

Group Type: PLACEBO_COMPARATOR

Placebo

Intervention Type: DRUG

Looks exactly like the study drug, but it contains no active ingredient

Interventions

Nicotinamide Riboside

Vitamin B3 derivative; a total of 1000 mg/day in a regimen of 500mg every 12 hours by mouth (either fasting or fed)

Intervention Type: DIETARY_SUPPLEMENT

Placebo

Looks exactly like the study drug, but it contains no active ingredient

Intervention Type: DRUG

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.

• 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.

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Ralitza Gavrilova

OTHER

Sponsor Role: lead

Responsible Party

Ralitza Gavrilova

Regulatory Sponsor

Responsibility Role: SPONSOR_INVESTIGATOR

Principal Investigators

Ralitza H. Gavrilova, MD

Role: PRINCIPAL_INVESTIGATOR

Mayo Clinic

Locations

Mayo Clinic in Rochester

Rochester, Minnesota, United States

Countries

United States

Other Identifiers

21-005125

Identifier Type: -

Identifier Source: org_study_id