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Natural History and Biomarkers of C9ORF72 ALS and FTD

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The National Institute of Neurological Disorders and Stroke, part of the National Institutes of Health, is looking for individuals to participate in clinical studies.  Participating in clinical trials allows you to play an active role in research on the nature and causes of many disorders of the brain and nervous system, and to possibly help physician-scientists develop future treatments.  The information below is designed to help you quickly learn about actively recruiting research studies for which you or someone you know may be eligible.


The purpose of this study (13-N-0188) is to describe the natural history of disease in people who carry a repeat expansion mutation in the C9ORF72 gene.  This gene can cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).  The second goal of this study is to find out if C9ORF72 biomarkers relate to how the disease progresses. 

ALS, also called Lou Gehrig's disease, is a rapidly progressive, fatal neurological disease.  It attacks the nerve cells which control voluntary muscles.  FTD describes a group of diseases which cause the degeneration of nerve cells in the frontal and temporal lobes of the brain. FTD is the second most common cause of early-onset dementia behind Alzheimer's disease.

A repeat expansion gene mutation occurs when a small section of DNA is repeated over and over again.  Normal C9ORF72 genes have less than twenty repeats.  Those with repeat expansion mutations have hundreds or thousands of repeats.  In this study, researchers will try to understand symptoms in people with mutations in the C9ORF72 gene.  Researchers will study brain function using magnetic resonance imaging (MRI) and magnetic stimulation.  Brain and body chemistries in the blood and cerebrospinal fluid also will be studied.  Scientists hope to learn how symptoms such as strength, ability to move, thinking and memory change over time.

Sixty-two persons will be enrolled.  Participants will have a number of clinical and thinking tests at the first visit and at three follow-up visits.   During each visit, physiological testing and imaging will be performed.   Blood and cerebrospinal fluid will be collected for testing of C9ORF72 biomarkers.  Between study visits, participants’ physical and cognitive status will be assessed through phone interviews.

All study visits will take place at the NIH Clinical Center in Bethesda, MD.  The study requires up to four visits to the NIH Clinical Center and three telephone interviews over three years.  Duration of the study for participants is three years.

Eligibility Criteria:

Please follow this link for trial eligibility information to share with your doctor. 

Study Design: 


Study Locations: 

Bethesda, Maryland

For more information:

Contact:  Carol H. Hoffman; Tel: 301-451-1229, email:; or Jennifer Farren, R.N.; Tel: 301-451-1229; or Patient Recruitment and Public Liaison Office; Tel: 1-800-411-1222; email:; or visit:

Last Reviewed February 1, 2016