A Study to Evaluate Vitamin B3 Derivative to Treat Mitochondrial Myopathy

Ralitza Gavrilova

Status and phase: Active, not recruiting; Phase 2

Conditions: Mitochondrial Myopathy

Treatments: Dietary Supplement: Nicotinamide Riboside; Drug: Placebo

Study type: Interventional

Funder types: Other

Identifiers

NCT05590468

21-005125

Details and patient eligibility

About

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

Enrollment: 34 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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.

Trial design

Primary purpose: Treatment

Allocation: Randomized

Interventional model: Parallel Assignment

Masking: Double Blind

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34 participants in 2 patient groups, including a placebo group

Nicotinamide Riboside treatment group

Experimental group

Description:

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

Treatment:

Dietary Supplement: Nicotinamide Riboside

Placebo Group

Placebo Comparator group

Description:

Subjects will receive a placebo daily for 12 months

Treatment:

Drug: Placebo