Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)?

What Was Tested

This registered phase 1 trial tested L-Carnitine for mitochondrial dysfunction.

A series of neurological and psychological evaluations will be conducted by trained evaluators/clinicians to evaluate both the severity and the clinical presentation of the ASD/mitochondrial dysfunction with each subject at baseline prior to treatment, after the 3 month treatment and again at 6 months, after another 3 month non-treatment period.

It had 1 arm (groups): Mitochondrial Cocktail (experimental).

The registry classes the interventions as drug.

More on the Plan

The Mitochondrial Cocktail is presently widely used as the standard of care for clinically treating mitochondrial dysfunction.

The Mitochondrial Cocktail treatment will be administered at home preferably in the morning once a day continuously for a total of 3 months.

All the children in the study will be treated with the same Mitochondrial Cocktail (an open label study). .

Safety will be also evaluated based on the occurrence of adverse events either reported spontaneously by the subject and/or caregiver or observed by the investigator(s).

Who Took Part

The registry lists 50 planned participants were the target.

It was open to people of any sex aged from 3 years up to 12 years.

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

The full record lists 3 inclusion and 6 exclusion criteria; among the exclusions: subject has a medical condition that could be expected in the opinion of the investigator to interfere with drug absorption, distribution, metabolism, or excretion; subject has an acute or sub-acutely progressive central nervous system disease; subject has major brain deformation or severe cognitive dysfunction.

How the Study Was Run

It was run as a single-group and open-label study.

Being open-label, the L-Carnitine study did not mask who received what.

Everyone received the same intervention, so there was no separate comparison group inside the trial.

It started in 2016-03 with completion listed for 2017-06.

It ran at 1 site in United States.

Its stated primary purpose is treatment.

What Was Measured

The main thing measured (primary outcome): Change in features of Autistic behavior phenotype assessed using the Social Responsiveness Scale (SRS) (time frame: Baseline (0), 3 and 6 months). Change in Executive Function assessed using the Behavior Rating Inventory of Executive Function (BRIEF) (time frame: Baseline (0), 3 and 6 months).

It also tracked 2 secondary outcomes, for example Changes in mitochondrial enzyme specific activities biochemically evaluated using buccal swab analysis and Change in buccal oxidative stress markers and mitochondrial DNA (mtDNA) damage.

What This Means in Plain Language

Put simply, this is a phase 1 trial of L-Carnitine in 50 people with mitochondrial dysfunction.

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

More context: the L-Carnitine compound page, Mitochondrial dysfunction research.