Early detection of respiratory impairment in ALS using breathing, MRI, and blood markers

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study seeks to identify early indicators of ALS by combining respiratory measurements, brainstem/spinal cord MRI, and blood biomarkers. It compares symptomatic ALS participants, asymptomatic individuals with genetic risk, and healthy controls to see if breathing changes align with brain and blood signs of nerve damage. Participants will undergo breathing and muscle function tests, MRI scans, and blood tests. The goal is to determine if early respiratory changes can distinguish ALS and correlate with genetic risk markers before major physical decline occurs. The study is led by Thomas Jefferson University with support from NINDS and is conducted at the Jefferson Center City campus in Philadelphia.

Why it matters

Who can join: the full rules

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.

Where it's running

• Thomas Jefferson University - Center City
  Philadelphia, Pennsylvania, United States Recruiting

Study contacts

• Study coordinator: Jayakrishnan Nair, PhD, PT
• Email: Jayakrishnan.Nair@jefferson.edu
• Phone: 352-871-5888

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.