A Study to Evaluate Vitamin B3 Derivative to Treat Mitochondrial Myopathy

• Status: Not yet recruiting
• Trial end date: 2025-11-01
• Target enrollment: 0
• Participant gender: All

Summary

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

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Eduardo N. Chini
• Treatments: Niacin; Niacinamide; Nicotinic Acids

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.