Clinical trial NCT05590468: A Study to Evaluate Vitamin B3 Derivative to Treat Mitochondrial Myopathy
Official title: Randomized, Double-blinded, Placebo-controlled Study Evaluating the Efficacy of Nicotinamide Riboside (NR) - a Vitamin B3 Derivative - for Treatment of Mitochondrial Myopathy Disorder
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: PHASE2
Conditions: Mitochondrial Myopathy
Lead sponsor: Mayo Clinic
Sponsor class: OTHER
First posted: 2022-10-21
Enrollment: 34
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: PARALLEL
Primary purpose: TREATMENT

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


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.

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.

Primary outcomes:
measure: Changes in 6-Minute Walk Test Performance
timeFrame: Baseline, 6 months, 12 months
Secondary outcomes:
measure: Change in skeletal muscle function
timeFrame: Baseline, 6 months, 12 months
measure: Change in skeletal muscle strength
timeFrame: Baseline, 6 months, 12 months
measure: Change in isometric strength of trunk flexors
timeFrame: Baseline, 6 months, 12 months
measure: Change in isometric strength of trunk extensor muscle
timeFrame: Baseline, 6 months, 12 months
measure: Change in maximal oxygen uptake (VO2 max)
timeFrame: Baseline, 6 months, 12 months
Other outcomes:
Locations:
city: Rochester
country: United States
facility: Mayo Clinic in Rochester
state: Minnesota
Study officials:
affiliation: Mayo Clinic
name: Ralitza H. Gavrilova, MD
role: PRINCIPAL_INVESTIGATOR
References: