Research

C9ORF72 ALS Study Seeks Participants

Amy Madsen

C9ORF72Researchers are looking for people with ALS (amyotrophic lateral sclerosis) to participate in a research study aimed at better understanding the specific form of ALS caused by a mutation in the gene for C9ORF72.

The C9ORF72 mutation is the most common genetic cause of ALS known to date and is present in approximately 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. It’s hoped that the in-depth study of patients with the C9ORF72 mutation will ultimately help in the development of treatments for this common form of ALS.

Trial participants will have as many as nine in-person visits and five telephone interviews over a period of three years. For those who live near the trial site, each in-person visit may be tied to a regular clinic visit. For those who live out of town, one initial visit can be set up with all other visits performed via a telephone call and medical records review.

At each in-town visit, participants will:

  • have blood drawn (optional lumbar puncture);
  • complete the ALS Functional Rating Scale — revised (ALSFRS-R) questionnaire, which measures motor function;
  • complete the ALS-Cognitive Behavioral Screen (ALS-CBS) questionnaire, which detects signs of frontal temporal dementia (FTD); and
  • undergo a breathing test to determine slow vital capacity (SVC) measurements.

For out-of-town subjects, blood draws can be scheduled locally and sent to the study site for analysis. The ALSFRS-R can be performed over the phone along with other study-related questions.

Investigators will assess clinical data to determine rates of disease progression. Blood and cerebral spinal fluid samples that are collected will be correlated with clinical measures.

Participants must be 18 years or older and have ALS with a confirmed C9ORF72 mutation and meet other eligibility requirements.

The trial site is located at Washington University School of Medicine in St. Louis, Mo. If you are interested in participating, call 314-362-6159 or email neuroclinicalstudies@neuro.wustl.edu. You may also visit ClinicalTrials.gov and enter NCT02686268 into the search box.