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

NCT06849115 | Completed Phase 4 DMC

• 1 other identifier: ALS-L-carnitine
• Study Type: interventional
• Target: 4
• Locations: 1 country
• Sites: 1

Brief Summary

The study was designed as a single-center, open-label, single-arm pilot study to estimate the safety and efficacy L-carnitine in ALS patients with CHCHD10 mutations.

Conditions

Amyotrophic Lateral Sclerosis (ALS)

Keywords

Amyotrophic Lateral Sclerosis; L-carnitine; CHCHD10; flail arm syndrome

Outcome Measures

Primary Outcomes (1)

• Changes of ALS-FRS-R scores

  ALS-Functional Rating Scale-Revised (ALS-FRS-R) score ranges from 0 to 48, with higher scores indicating better motor function (0 = complete loss of motor function; 48 = intact/normal motor function)

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

Secondary Outcomes (4)

• Changes of plasm NfL level

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

• Changes of FVC%

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

• Changes of Weight

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

• Changes of ALSAQ-40 scores

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

Study Arms (1)

L-carnitine group

EXPERIMENTAL

Drug: L-Carnitine Injection，1000mg once daily

Interventions

L-Carnitine Injection，1000mg once daily DRUG

All patients were given L-carnitine therapy administered every 8 weeks, consisting of 1g L-carnitine diluted in 500 mL of 0.9% sodium chloride solution via intravenous infusion once daily. Each treatment cycle lasted 2 weeks, repeated at 8-week intervals for a total of 3 cycles, with L-carnitine 1g is administered orally once daily during the intervals between intravenous therapies.

L-carnitine group

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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
• Forced Vital Capacity (FVC) \>40% of predicted value for gender, height, and age at the Screening Visit
• Subjects develop at less moderate degree of motor dysfunction, with ALS-FRS-R total scores less than 46
• Both male and female patients must agree to use adequate birth control for the whole duration of the study within 30 weeks
• Subjects are willing and expected to complete the 30-week follow up, including 3 times hospitalization.

You may not qualify if:

• 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
• Renal insufficiency as defined by eGFR \< 60 mL/min/1.73m2
• Pregnant women or women currently breastfeeding
• Clinically significant unstable medical condition (other than ALS) that would pose a risk to the subject if they were to participate in the study
• Anything that, in the opinion of the Site Investigator, would place the subject at increased risk or preclude the subject's full compliance with or completion of the study.

Sponsors & Collaborators

• ChaodongWang: lead

Study Sites (1)

Xuanwu Hospital, Capital Medical University

Beijing, China, 100053, China

Location

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; TDP-43 Proteinopathies; Neuromuscular Diseases; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: interventional
• Phase: phase 4
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: February 23, 2025
• First Posted: February 27, 2025
• Study Start: July 18, 2024
• Primary Completion: December 19, 2024
• Study Completion: February 13, 2025
• Last Updated: April 8, 2025

Record last verified: 2025-02

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)