Natural History and Biomarkers of C9ORF72 Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Study Purpose:


Amyotrophic Lateral Sclerosis (ALS), Frontotemporal Dementia (FTD)

Study Type:

Observational Study

Study Category:


Study Status:

Not enrolling


Not Applicable

Study Chair(s)/Principal Investigator(s):

Mary Kay Floeter, M.D. ID (11 digit #):


Neals Affiliated?


Coordinating Center Contact Information

National Institutes of Health Clinical Center
Carol H Hoffman; Mary Kay Floeter; Jennifer Farren / .(JavaScript must be enabled to view this email address) / (301) 496-7428; (301) 496-7428; (301) 496-5526
.(JavaScript must be enabled to view this email address) 9000 Rockville Pike
Bethesda, Maryland 20892 United States

Full Study Summary:

Some people have a mutation in the C9ORF72 gene that causes amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD). The mutation causes a small piece of DNA to repeat itself thousands of times. The C9ORF gene mutation mostly occurs in families. In those families, some persons have ALS and others have FTD. Occasionally the C9ORF gene mutation occurs in persons without a family history. Researchers want to understand how this gene causes different diseases. They will study how symptoms caused by the C9ORF gene develop and change over time. They will measure symptoms that occur in ALS and in FTD. In particular, they will measure strength, ability to move, thinking, and memory. They will also see if other tests are associated with progression of disease. These tests, called biomarkers, may help detect or measure C9ORF72 disease in the future

Study Sponsor:

National Institute of Neurological Disorders and Stroke (NINDS)

Participant Duration:

Participants will have up to 4 in-person visits and 3 telephone interviews over 3 years. Each in-person visit may take place over several days. They may be either inpatient or outpatient visits

Estimated Enrollment:


Estimated Study Start Date:


Estimated Study Completion Date:


Posting Last Modified Date:


Date Study Added to

  • Eligibility Criteria


    Female, Male

    Minimum Age:


    Maximum Age:


    Time since Symptom Onset:

    Time since Diagnosis:

    Can participants use Riluzole?


    Patients will be included if they
    •Are age 18 or older
    •Have a confirmed repeat expansion in the C9ORF72 gene

    Patients will be excluded if they
    •have other major neurological or medical diseases that may cause progressive weakness or cognitive dysfunction, such as structural brain or spinal cord disease, metabolic diseases, paraneoplastic syndromes, hereditary diseases, infectious diseases, peripheral neuropathy or radiculopathy or other significant neurological abnormalities.
    •require daytime ventilator support at the time of study entry
    •are unable to travel to NIH at the time of study entry
    •are unwilling to return for follow-up visits
    •are unable to understand or decline to sign the Informed Consent at the time of study entry. Participants can remain in the study (with DPA consent and participant assent) if they lose consent capacity.
    •have unstable medical conditions that, in the opinion of the investigators, prevent safe participation in this study.

  • Site Contact Information

    National Institutes of Health Clinical Center
    Mary Kay Floeter, M.D. / .(JavaScript must be enabled to view this email address) / 9000 Rockville Pike
    Bethesda, Maryland 20892
    United States