CReATe Consortium: TRIAL READY Study

• Individuals affected with ALS or a related neurodegenerative disorder, including ALS-FTD, FTD, PLS, and PMA.
• Healthy controls

To validate the following as biomarkers of ALS and related disorders: 

(a) urinary p75^ECD;

(b) NfL and pNfH in blood and cerebrospinal fluid; and

(c) for patients with the C9orf72 repeat expansion: poly(GP) in peripheral blood mononuclear cells and cerebrospinal fluid.

Up to 5 half-day study visits in Miami over a 1-year period

• Family and medical history review
• Genetic counseling
• Genetic Testing (with choice to learn results or remain blinded)
• Collect blood, urine, and CSF fluid (CSF optional)
• Neurological exam
• Neuropsychological exam
• Breathing testing
• Surveys

(Specific procedures depend on whether participating as a control or as an individual affected with ALS or related disorder)