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

Más betegség

• History of known allergy to L-carnitine
• Clinically significant unstable medical condition (other than ALS) that would pose a risk to the subject if they were to participate in the study

Laborértékek

• 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

Egyéb

• Presence of tracheostomy
• Pregnant women or women currently breastfeeding
• 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.

• 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.