A Study to Evaluate Vitamin B3 Derivative to Treat Mitochondrial Myopathy

Phase 2

Recruiting

• Conditions: Mitochondrial Myopathy
• Interventions: Drug: Placebo; Dietary Supplement: Nicotinamide Riboside

• Registration Number: NCT05590468
• Lead Sponsor: Ralitza Gavrilova

Brief Summary

The purpose of this study is to determine the effects of Nicotinamide Riboside (NR) supplement in adult-onset symptoms of mitochondrial myopathy.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2022-10-19
• Study First Submitted QC: 2022-10-19
• Study First Posted: 2022-10-21
• Study Start: 2023-05-26
• Status Verified: 2024-06
• Last Update Submitted: 2025-02-27
• Last Update Posted: 2025-03-03
• Primary Completion: 2025-11
• Study Completion: 2025-11

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 34

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Placebo Group	Placebo	Subjects will receive a placebo daily for 12 months
Nicotinamide Riboside treatment group	Nicotinamide Riboside	Subjects will receive vitamin B3 derivative Nicotinamide Riboside (NR) daily for 12 months

Primary Outcome Measures

Name	Time	Method
Changes in 6-Minute Walk Test Performance	Baseline, 6 months, 12 months	The 6-minute walk test (6MWT) quantifies the distance a person can walk in six minutes. Measured in meters.

Secondary Outcome Measures

Name	Time	Method
Change in isometric strength of trunk extensor muscle	Baseline, 6 months, 12 months	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.
Change in isometric strength of trunk flexors	Baseline, 6 months, 12 months	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.
Change in skeletal muscle function	Baseline, 6 months, 12 months	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.
Change in skeletal muscle strength	Baseline, 6 months, 12 months	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.
Change in maximal oxygen uptake (VO2 max)	Baseline, 6 months, 12 months	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.

Trial Locations

Locations (1)

Mayo Clinic in Rochester; 🇺🇸 Rochester, Minnesota, United States