Alzheimer's Disease Education and Referral Center

Natural History of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Natural History of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Overall Status: 
Recruiting
Brief Description: 

This study's primary objective is to characterize the natural history of disease in people with amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), or both conditions who carry a repeat expansion in the C9ORF72 gene. The secondary objective is to assess whether biomarkers can predict disease onset or progression.

Patient Qualifications: 
Min AgeMax AgeGenderHealthy Volunteers
18 Years
N/A
Both
No
Inclusion Criteria: 
    • Confirmed repeat expansion in the C9ORF72 gene or carrier of the gene mutation with a symptomatic family member
Exclusion Criteria: 
    • Major neurological or medical disease 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 (standard medications for treatment of ALS and its symptoms are acceptable)
    • Use of daytime ventilator support at the time of study entry
    • Unable to travel to study site at the time of study entry or unwilling to return for follow-up visits
    • Unable to understand or sign the informed consent form at the time of study entry; participants can remain in the study with proxy consent and participant assent if they lose consent capacity
    • Pacemakers or other implanted electrical devices, brain stimulators, dental implants, aneurysm clips, metallic prostheses (including metal pins and rods, heart valves, and cochlear implants), permanent eyeliner, implanted delivery pumps, shrapnel fragments, or other metal fragments that preclude magnetic resonance imaging
    • Unstable medical conditions that prevent safe participation in the study
    • Participation in experimental treatment trials at the time of study entry or within 6 months of entry; participation in non-treatment clinical research studies is allowed
Detailed Description: 

In this observational study, researchers will characterize the natural history of disease in people with ALS, ALS-FTD, or FTD who carry a repeat expansion in the C9ORF72 gene. They will also assess whether any biomarkers correlate with disease progression. 

Participants will undergo a structured battery of clinical and neuropsychological tests at enrollment and at three follow-up visits to assess disease severity. During these visits, physiological, imaging, blood, and cerebrospinal fluid will be tested as possible biomarkers. Between visits, functional status and cognition will be assessed by phone. Scientists will look for changes in motor function, cognition, and behavior. Test results will determine whether biomarkers can predict disease onset or progression.

Locations: 
Map Marker CityStateZip CodeStatusPrimary Contact

Geolocation is 39.0023604, -77.097455

Site
Bethesda
Maryland
20892
Recruiting
Name: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)
Phone: 800-411-1222
Email: prpl@mail.cc.nih.gov
Lead Sponsor: 
Agency
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator Sponsor: 
Agency
National Institute on Aging (NIA)
Facility Investigators: 
NameRoleAffiliation
Mary Kay Floeter, MD
Principal Investigator
National Institute of Neurological Disorders and Stroke
Study Contact: 
NamePhoneEmail
Carol H. Hoffman
301-496-7428
Locations
 
 
ClinicalTrials.gov ID 
Official Title: 
Natural History and Biomarkers of C9ORF72 Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Study Start Date: 
August 2013
Study End Date: 
September 2018
Enrollment: 
62