A Study to Evaluate Vitamin B3 Derivative to Treat Mitochondrial Myopathy

NCT05590468 | Active Not Recruiting Phase 2 FDA Drug

• 1 other identifier: 21-005125
• Study Type: interventional
• Target: 34
• Locations: 1 country
• Sites: 1

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

Outcome Measures

Primary Outcomes (1)

• 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.

  Baseline, 6 months, 12 months

Secondary Outcomes (5)

• Change in skeletal muscle function

  Baseline, 6 months, 12 months

• Change in skeletal muscle strength

  Baseline, 6 months, 12 months

• Change in isometric strength of trunk flexors

  Baseline, 6 months, 12 months

• Change in isometric strength of trunk extensor muscle

  Baseline, 6 months, 12 months

• Change in maximal oxygen uptake (VO2 max)

  Baseline, 6 months, 12 months

Study Arms (2)

Nicotinamide Riboside treatment group

EXPERIMENTAL

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

Dietary Supplement: Nicotinamide Riboside

Placebo Group

PLACEBO COMPARATOR

Subjects will receive a placebo daily for 12 months

Drug: Placebo

Interventions

Nicotinamide Riboside 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)

Nicotinamide Riboside treatment group

Placebo DRUG

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

Placebo Group

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Ralitza Gavrilova: lead

Study Sites (1)

Mayo Clinic in Rochester

Rochester, Minnesota, 55905, United States

Location

MeSH Terms

Conditions

Mitochondrial Myopathies

Interventions

nicotinamide-beta-riboside

Condition Hierarchy (Ancestors)

Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Ralitza H. Gavrilova, MD

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: RANDOMIZED
• Masking: DOUBLE
• Who Masked: PARTICIPANT, INVESTIGATOR
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Regulatory Sponsor

Study Record Dates

• First Submitted: October 19, 2022
• First Posted: October 21, 2022
• Study Start: May 26, 2023
• Primary Completion (Estimated): November 1, 2026
• Study Completion (Estimated): November 1, 2026
• Last Updated: January 26, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)