Overview
The goal of this observational study is to develop new ways to detect early changes associated with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. The study will examine whether changes in breathing, magnetic resonance imaging (MRI) of the brainstem and spinal cord, and blood markers can identify early signs of ALS before major physical changes occur.
The main questions the study aims to answer are:
- Can changes in automatic breathing help identify early ALS-related changes?
- Can breathing measures distinguish people with ALS from people without ALS?
- Do people with genetic risk for ALS who show changes in breathing also have changes in the brainstem and spinal cord or higher levels of blood markers associated with nerve damage?
Participants will complete breathing and muscle function tests, an MRI scan of the brainstem and spinal cord, and blood testing. The study will include people with ALS, people with genetic risk for ALS who do not yet have symptoms, and healthy adults for comparison.
Eligibility
Inclusion Criteria:
- Symptomatic participants with ALS must have an ALS Functional Rating Scale-Revised (ALSFRS-R) score of 47/48 or less at the time of recruitment.
- Asymptomatic/presymptomatic participants must have a pathogenic C9orf72 expansion of at least 25 repeats or a similar genetic abnormality known to be associated with ALS.
- Healthy control participants must have no clinically identifiable neurological deficits based on medical history and screening. -
Exclusion Criteria:
- Any safety concern or contraindication to MRI based on MRI safety screening.
- Healthy control participants who do not pass the neurological screening.
- Pregnancy.
- Metal implants above the waist, including cardiac pacemakers or brain, neck, cervical, or thoracic implants.
- Neurocognitive impairment.
- Inability or unwillingness to provide informed consent.
- Younger than 18 years of age.