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Study Summary

The main goals of the TRIAL READY study are: (a) to enroll and follow healthy individuals with longitudinal collection of biological specimens; and (b) to offer screening for a change (mutation) in the C9ORF72 gene to all ALS and related disorder patients seen at participating centers. Patients will also be asked to return for longitudinal collection of clinical (phenotypic) data and biological specimens. The biological specimens collected from ALS patients and healthy controls will be used, along with similar data and specimens collected through other CReATe Consortium protocols, to learn more about biomarkers of ALS and related neurodegenerative diseases. A biomarker is an indicator of disease that can easily be measured. This information will be used to help advance the development of therapies for this group of disorders.

For Diseases

  • Amyotrophic lateral sclerosis (ALS)
  • Frontotemporal dementia (FTD)
  • Primary lateral sclerosis (PLS)
  • Progressive muscular atrophy (PMA)
  • Healthy volunteers without neurological disease and with no known risk for developing ALS or a related neurodegenerative disorder in the future


ALS and related neurodegenerative diseases are currently untreatable and continue to be resistant to the development of effective therapies. Clinical trials are hampered by a paucity of biomarkers that might provide an early indication of whether an experimental treatment is helping.

About This Study

A total of about 600 people will take part in this study at sites in the United States. The study will include ~500 adults who have ALS or a related disease and ~100 healthy adult volunteers (controls).

Study participants with ALS or a related disease will have 2 in-person visits.

Study participants who are healthy volunteers will have 5 in-person visits over one year.

Enrollment Criteria

To be eligible to participate, you must be part of one of the following groups:

1. Individuals with ALS or a related disorder (affected):

  • Have a clinical diagnosis of ALS or a related disorder, including but not limited to ALS-FTD, FTD, PLS, or PMA
  • Able and willing to comply with study procedures
  • Able and willing to provide informed consent (or informed consent obtainable from a designated proxy)
  • At least 18 years of age
  • Willing to undergo screening for a C9ORF72 repeat expansion and to learn the results


2. Healthy volunteers (controls):

  • Able and willing to comply with study procedures
  • Able and willing to provide informed consent
  • At least 18 years of age
  • Not be at particular risk for developing a neurological disease

How to Participate:

In order to participate in this study, please contact the study coordinator at one of the participating institutions by phone or by e-mail.