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Developing New Ways to Detect Respiratory Impairment Early in ALS

Early Detection of Respiratory Impairments in ALS: A Novel Diagnostic Approach

Who can join

Ages 18 and older · All sexes · Healthy volunteers welcome

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.

About the study

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.

Sponsor: Thomas Jefferson University · Participants: 70 · Started: 2026-09

Contact the study team

• Jayakrishnan Nair, PhD, PT · Phone: 352-871-5888
• Dana Johnson, DPT · Phone: 215-326-9153

Official record on ClinicalTrials.gov — NCT07844590

Locations in the U.S.

Conditions

• Amyotrophic Lateral Sclerosis
• Respiratory Failure
• ALS and Motor Neuron Disease

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.