Developing New Ways to Detect Respiratory Impairment Early in ALS

Overview

Official title

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

Brief title

Developing New Ways to Detect Respiratory Impairment Early in ALS

Registration type

ClinicalTrials.gov

NCT number

NCT07844590

Status

Recruiting

Study category

Observational, Biomarker, Genetic, Presymptomatic, Imaging

Sponsor / center

Thomas Jefferson University

Research center

Not stated in the official study record.

Collaborators

National Institute of Neurological Disorders and Stroke (NINDS)

Study type

Observational study

Phase

Not applicable / observational

Enrollment

70

Start date

09-XX-2026

Primary completion date

03-31-2028

Estimated / actual completion date

03-31-2028

Last source update

09-28-2026

What is being studied?

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.

Intervention(s)

Not stated in the official study record.

Who may be eligible?

This is a simplified summary. The official study team or research center determines eligibility.

Population / disease status

Presymptomatic gene carrier, Healthy control, Diagnosed ALS

Diagnosis / conditions

Amyotrophic Lateral Sclerosis (ALS)

Age

18 Years to Not stated in the official study record.

Disease duration

Not stated in the official study record.

Respiratory criteria

Not stated in the official study record.

ALSFRS-R criteria

The official eligibility criteria include language relevant to this topic; review the full criteria below.

Genetic criteria

The official eligibility criteria include language relevant to this topic; review the full criteria below.

Medication requirements

Not stated in the official study record.

Major inclusion and exclusion criteria from the official record

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.

Genetics

Gene-specific study?

Yes

Gene or variant

C9orf72

Genetic test required?

Not stated in the official study record.

Known carrier required?

Not stated

Confirmed pathogenic variant required?

Yes

Presymptomatic carriers eligible?

Yes

At-risk relative eligible?

Not stated

Genetic test provided?

Not stated in the official study record.

Genetic counseling provided?

Not stated in the official study record.

Results returned / offered?

Not stated

Family history required?

Not stated in the official study record.

Study design

Randomized?

Not stated in the official study record.

Allocation

Not stated in the official study record.

Intervention model

Not stated in the official study record.

Masking

Not stated in the official study record.

Placebo

Not stated in the official study record.

Primary purpose

Not stated in the official study record.

Endpoints

Primary outcome measures

• Diagnostic Accuracy of the Automatic Breathing Impairment Risk Score (P0.1 + Chemosensitivity) for Detecting ALS-Related Respiratory Dysfunction

Secondary outcome measures

• Fractional Anisotropy of the Brainstem and Cervical Spinal Cord
• Axial Diffusivity of the Brainstem and Cervical Spinal Cord
• Radial Diffusivity of the Brainstem and Cervical Spinal Cord
• Mean Diffusivity of the Brainstem and Cervical Spinal Cord
• Plasma Neurofilament Light Chain (Nf-L) Level
• Serum Neurofilament Light Chain (Nf-L) Level

A biomarker outcome should not automatically be interpreted as a clinical outcome.

Locations

Contact

Central contact: Jayakrishnan Nair, PhD, PT · Jayakrishnan.Nair@jefferson.edu · 352-871-5888; Dana Johnson, DPT · dana.johnson@jefferson.edu · 215-326-9153