Natural History of C9ORF72 in ALS


  •     Amyotrophic lateral sclerosis (ALS)

Study Name:

Understanding Clinical Phenotypes and Collecting Biomarker Samples in C9ORF72 ALS


The purpose of this natural history study is to better understand a specific form of amyotrophic lateral sclerosis (ALS) caused by an abnormality of the C9ORF72 gene. This mutation is the most common genetic cause of ALS and is present in 40 percent of ALS patients with a family history of ALS and 5 to 10 percent of ALS patients without a family history of the disease. Researchers hope that following a group of patients with the C9ORF72 mutation over time will ultimately facilitate the development of treatments for this common form of ALS.

Key Inclusion Criteria:

  • At least 18 years old
  • Known positive C9ORF72 ALS status upon enrollment
  • Capable of providing informed consent and following study procedures
  • Geographically accessible to the site

Key Exclusion Criteria:

  • Invasive ventilator dependence, such as tracheostomy
  • Negative for C9ORF72 ALS gene mutation
  • Geographically inaccessible to the site

Please see complete list of inclusion and exclusion criteria.

Principal Investigator:

Robert Baloh, MD


Peggy Allred, PT, DPT
Richard Lewis, MD

Study Coordinator and Contact:

Ashley Fetterman
Phone: 310-423-8497



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