Effects of L-Carnitine in Amyotrophic Lateral Sclerosis Patients With CHCHD10 Mutations

What Was Tested

In this phase 4 trial, researchers set out to test L-Carnitine.

It had 1 arm (groups): L-carnitine group (experimental).

The registry classes the interventions as drug.

More on the Plan

The study was designed as a single-center, open-label, single-arm pilot study and was performed at the ALS inpatient clinic of the Xuanwu Hospital in Beijing, China.

ALS patients with CHCHD10 mutations were recruited to participate in the clinical trial.

Primary end point was the changes of ALS-FRS-R scores, and secondary end points were the changes of plasm NfL level, FVC%, weight and ALSAQ-40 scores.

Eligible patients were assessed at baseline and after 2, 10, 12, 20 and 30 weeks.

Who Took Part

The registry lists 4 actual participants took part.

It was open to people of any sex aged from 18 years up to 80 years.

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

Examples of who could join: Male or female, 18-80 years old. ALS diagnosed as definite or probable as defined by the World Federation of Neurology revised El Escorial criteria. Carrying pathogenic CHCHD10 mutations. Capable of providing informed consent and following trial procedures. Subjects develop at less moderate degree of motor dysfunction, with ALS-FRS-R total scores less than 46.

The full record lists 8 inclusion and 7 exclusion criteria; among the exclusions: presence of tracheostomy; history of known allergy to l-carnitine; abnormal liver function defined as ast and/or alt \> 3 times the upper limit of the normal.

How the Study Was Run

Design: single-group and open-label.

Nothing was hidden in this open-label L-Carnitine study: the participants and staff both knew the treatment.

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

It started in 2024-07-18 with completion listed for 2024-12-19.

It ran at 1 site in China.

Its stated primary purpose is treatment.

What Was Measured

The main thing measured (primary outcome): Changes of ALS-FRS-R scores (time frame: Eligible patients were assessed at baseline and after 2, 10, 12, 20 and 30 weeks).

It also tracked 4 secondary outcomes, for example Changes of plasm NfL level, Changes of FVC%, Changes of Weight and Changes of ALSAQ-40 scores.

What This Means in Plain Language

Put simply, this is a phase 4 trial of L-Carnitine in 4 people.

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

The trial is marked completed; no results are posted to the registry yet, so nothing here describes outcomes.

More context: the L-Carnitine compound page, all human trials.