Vitamin B12 and Folinic Acid Supplementation in Mitochondrial DNA Deletion Syndromes

What Was Tested

The trial (phase 1) is built around Cyanocobalamin (Vitamin B12).

Complete blood counts (CBC) will be followed during this study (at initiation, 3 months, and 6 months) to assess for response in MCV to supplementation.

The registry classes the interventions as dietary supplement.

More on the Plan

Routine blood will be collected as regular standard of care with each visit.

MMA will also be assessed.

The NMDAS has a maximum score of 140 (sections I, II (excluding question 8), and III).

A higher score indicates more severe disease.

Who Took Part

The registry lists 25 planned participants were the target.

It was open to people of any sex aged from 19 years with no upper age limit.

Healthy volunteers were not accepted; participants needed the condition being studied.

Examples of who could join: Ages eligible for study: 19 years and older (Adult, Older Adult). All subjects reviewed previously at the Adult Metabolic Diseases Clinic with clinical features characteristic of major mtDNA deletion cases with biochemical macrocytosis. Continue prior administration of other therapies pertaining to their necessary medical care. Subjects must be clinically stable for more than one month after any stroke-like episodes. Written, informed consent to participate in the study.

The full record lists 5 inclusion and 6 exclusion criteria; among the exclusions: subjects with mitochondrial disease with a genetic etiology other than a major mtdna deletion; palliative care patients; subjects who decline blood test and/or the follow-up schedule.

How the Study Was Run

It was run as a crossover and open-label study.

Each person switched between Cyanocobalamin (Vitamin B12) and the comparison at some point, usually with a gap in between.

Being open-label, the Cyanocobalamin (Vitamin B12) study did not mask who received what.

It started in 2024-01 with completion listed for 2025-01.

Its stated primary purpose is diagnostic.

What Was Measured

Researchers chose this as the main measure: Macrocytosis (time frame: 1 year).

It also tracked 1 secondary outcome, for example Newcastle mitochondrial disease adult scale (NMDAS).

What This Means in Plain Language

Put simply, this is a phase 1 trial of Cyanocobalamin (Vitamin B12) in 25 people.

Its size is small, so on its own it can only give an early look.

Its status is unknown; no results are posted to the registry yet, so nothing here describes outcomes.

More context: the Cyanocobalamin (Vitamin B12) compound page, all human trials.