Recruiting

Observational Study

Sponsor:

Thomas Jefferson University

Code:

NCT07844590

Conditions

Amyotrophic Lateral Sclerosis (ALS)

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Accepted

Study Details

Brief summary:

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.

Conditions

Amyotrophic Lateral Sclerosis (ALS)

Study ID

NCT07844590

Start date

Sep, 2026

Status verified date

Sep, 2026

Completion date

Mar 31, 2028

Anticipated

Primary completion date

Mar 31, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Accepted

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.

Study Design

Enrollment

70 participants

Anticipated

Interventions and Outcome Measures

Arms

Symptomatic Amyotrophic Lateral Sclerosis

Participants with symptomatic amyotrophic lateral sclerosis (ALS), including familial or sporadic ALS, who have clinical evidence of disease. This group will undergo study assessments to characterize respiratory function and biomarkers associated with ALS.

Asymptomatic/Presymptomatic ALS Gene Carriers

Participants who carry a genetic variant associated with amyotrophic lateral sclerosis but do not have clinical symptoms or functional deficits associated with ALS. This group will be evaluated for early or subclinical changes in respiratory function and other biomarkers associated with ALS.

Healthy Controls

Neurologically healthy participants without clinically identifiable neurological deficits who will serve as a comparison group for the study assessments.

Primary outcome measure

  • Diagnostic Accuracy of the Automatic Breathing Impairment Risk Score (P0.1 + Chemosensitivity) for Detecting ALS-Related Respiratory Dysfunction [ Time Frame: During the single study visit ]

Central Contacts and Locations

Central contacts

Jayakrishnan Nair, PhD, PT

352-871-5888Jayakrishnan.Nair@jefferson.edu

Dana Johnson, DPT

215-326-9153dana.johnson@jefferson.edu

Locations

Thomas Jefferson University - Center City

Recruiting

Philadelphia, Pennsylvania, United States, 19107

Contacts

Dana Johnson, DPT

215-326-9153Dana.Johnson@jefferson.edu

Jayakrishnan Nair, PhD, PT

352-871-5888Jayakrishnan.Nair@jefferson.edu

Principal Investigator:

Jayakrishnan Nair, PhD, PT

More Information

Sponsor

Thomas Jefferson University

Last update posted

Sep 28, 2026

Last verified

Sep, 2026

Keywords

  • Amyotrophic lateral sclerosis
  • Early diagnosis
  • Respiratory function
  • Respiratory impairment
  • Respiratory biomarkers
  • Biomarkers
  • Neuroimaging
  • Magnetic resonance imaging
  • Brainstem
  • Spinal cord
  • Neurofilament light chain
  • Genetic risk
  • Presymptomatic amyotrophic lateral sclerosis
  • Motor neuron disease
  • Respiratory muscle function
  • Lou Gehrig's disease
  • automatic breathing
  • respiratory control
  • respiratory weakness
  • respiratory muscle strength
  • pulmonary function
  • respiratory drive
  • hypoxic
  • hypercapnic
  • Surface electromyography

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-29. This information was provided to ClinicalTrials.gov by Thomas Jefferson University on 2026-09-28. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.