Study of Adults With Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, and Related Neurodegenerative Disorders to Understand Disease Causes and Progression

What this Trial Is About

This research investigates adults diagnosed with frontotemporal dementia, amyotrophic lateral sclerosis, and related neurodegenerative disorders linked to the buildup of TDP-43 or Tau proteins. The goal is to better understand whether these diseases share causes or risk factors and to evaluate patient eligibility for ongoing research studies. The study also aims to develop a registry of patients and gene mutation carriers related to these conditions and explore imaging biomarkers and molecular pathways. Participants undergo a screening visit lasting 2 to 3 days, which includes medical history review, physical exam, behavioral and mood questionnaires, cognitive testing, and movement assessments such as timed chair stands and walking. Additional tests include blood sampling possibly for genetic testing, lung and breathing tests, MRI scans some with intravenous dye, electromyography, nerve tests, skin biopsies, and optional lumbar puncture to collect cerebrospinal fluid. Biospecimens may be collected for laboratory research, and advanced imaging like 7 Tesla MRI and transcranial magnetic stimulation may be used to study disease markers. Participants are involved in detailed assessments of cognitive and motor function, with some videotaped during movement and speech tasks. Clinical data will be analyzed to identify features and differences among participants. The study monitors clinical information up to October 2027. Participants not eligible for current studies may be contacted for future research opportunities. The total duration and frequency of follow-up depend on individual study protocols and assessments.

Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia