Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations.
Julie S Snowden, Jennifer Adams, Jennifer Harris...
https://pubmed.ncbi.nlm.nih.gov/26473392Actively Recruiting
Age: 18Years - 110Years
All Genders
ID03225144
Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Led by National Institute of Neurological Disorders and Stroke (NINDS) · Updated on 2026-06-01
360
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying adults with neurodegenerative disorders linked to the buildup of TDP-43 or Tau proteins, such as frontotemporal dementia and amyotrophic lateral sclerosis. The goal is to better understand related causes, risk factors, and to identify eligibility for ongoing research studies. This observational study also aims to create a registry of patients and gene mutation carriers, and explore molecular and imaging markers of disease. Participants will undergo a screening visit lasting 2 to 3 days, including medical history review, physical exams, behavior and mood questionnaires, memory and thinking tests, and movement assessments with some videotaping. Additional tests include blood sampling for genetics, lung and breathing tests, MRI scans, electromyography, nerve activity tests, and optional procedures such as skin biopsy and lumbar puncture. These procedures help collect biospecimens and imaging data for research. During the study, participants will be assessed through clinical tests to confirm diagnoses and evaluate disease severity. Researchers will analyze memory, motor skills, and clinical information from these evaluations. Participants may also provide biosamples for laboratory studies and undergo advanced imaging to find biomarkers of neurodegeneration. The study continues until October 2027, with ongoing data collection and participant monitoring.
CONDITIONS
Brief Title
Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Who Can Participate
Age: 18Years - 110Years
All Genders
Eligibility Criteria
You may qualify if you...
- Age 18 years or older
- Diagnosis by a neurologist of frontotemporal dementia, primary progressive aphasia, semantic dementia, motor neuron disorder, amyotrophic lateral sclerosis, progressive bulbar palsy, corticobasal syndrome, Huntington disease, or related adult-onset neurodegenerative disorder
- Carry a gene mutation causing familial amyotrophic lateral sclerosis or frontotemporal dementia
You will not qualify if you...
- Other major neurological or medical diseases causing progressive weakness or cognitive dysfunction, such as structural brain or spinal cord disease, metabolic diseases, paraneoplastic syndromes, infectious diseases, peripheral neuropathy, radiculopathy, or other significant neurological abnormalities
- Unstable medical condition making participation unsafe
- Need for daytime ventilator support at study entry
- Inability to travel to the study location
- Presence of tattoos above the neck or permanent makeup (for 7T MRI exclusion)
- Some implanted electrical devices or metal implants exclude participants from MRI but not from the study
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
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Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - 1 to 2 weeks
Participants undergo clinical tests to confirm diagnoses and to stage disease severity, including cognitive and motor function assessments.
1 to 2 visits depending on assessments
Sample Collection
Duration - As needed during the study period
Participants may opt-in for research procedures such as phlebotomy, skin biopsy, leukapheresis, and lumbar puncture to obtain biospecimens for laboratory research.
Visits scheduled as needed for biospecimen collection
Imaging Visits
Duration - As scheduled during the study period
Participants may undergo magnetic resonance imaging or transcranial magnetic stimulation to explore biomarkers of disease.
1 or more imaging visits depending on participant choice and eligibility
Long-term Monitoring
Duration - Up to October 30, 2027
Participants are observed over time to collect clinical information and track disease progression.
Periodic visits for clinical assessments over several years
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
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Research Team
C
Carol H Hoffman
J
Justin Y Kwan, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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Published Research Related To This Trial
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Alan E Renton, Elisa Majounie, Adrian Waite...
https://pubmed.ncbi.nlm.nih.gov/21944779