This study is currently recruiting participants.
Number
17-N-0131
Sponsoring Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 18 Years Max Age: 110 Years
Referral Letter Required
Yes
Population Exclusion(s)
Children
Keywords
TDP-43; Progressive Supranuclear Palsy; Motor Neuron Disease; Frontotemporal Dementia; Corticobasal Syndrome; Natural History
Recruitment Keyword(s)
None
Condition(s)
Frontotemporal Dementia; Amyotrophic Lateral Sclerosis; Progressive Supranuclear Palsy
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Institute of Neurological Disorders and Stroke
Neurodegenerative disorders can lead to problems in movement or memory. Some can cause abnormal proteins to build up in brain cells. Researchers want to understand whether these diseases have related causes or risk factors.
Objective:
To test people with movement or thinking and memory problems to see if they are eligible for research studies.
Eligibility:
People ages 18 and older with a neurodegenerative disorder associated with accumulation of TDP-43 or Tau proteins
Design:
Participants will have a screening visit. This may take place over 2-3 days. Tests include:
Medical history
Physical exam
Questions about behavior and mood
Tests of memory, attention, concentration, and thinking
Movement measurement. The speed at which participants can stand up from a chair, tap their finger and foot, and walk a short distance will be measured. Some movements will be videotaped. They will be videotaped while they speak and read a paragraph.
Blood tests. This might include genetic testing.
Lung and breathing tests
MRI. They will lie on a table that slides into a cylinder that takes pictures of the body. Some participants will get a dye through IV.
Electromyography. A thin needle will be inserted into the muscles to measure electrical signals.
Nerve tests. Small electrodes on the skin record muscle and nerve activity.
A small piece of skin may be removed.
A skin or blood sample may be taken to create stem cells.
Optional lumbar puncture. A needle will be inserted into the space between the bones of the back to collect fluid.
If participants are not eligible for current studies, they may be contacted in the future.
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INCLUSION CRITERIA: Patients will be included if they -Are age 18 or older -Have been given a diagnosis by a neurologist of frontotemporal dementia, primary progressive aphasia, semantic dementia, motor neuron disorder, amyotrophic lateral sclerosis, progressive bulbar palsy, corticobasal neurodegenerative disorder OR -Carry a mutation in a gene that causes familial ALS or FTD EXCLUSION CRITERIA: 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, infectious diseases, peripheral neuropathy or radiculopathy or other significant neurological abnormalities. -Have an unstable medical condition that, in the opinion of the investigators, makes participation unsafe -Require daytime ventilator support at the time of study entry -Are unable to travel to NIH -Patients with pacemakers or other implanted electrical devices, brain stimulators, dental implants, aneurysm clips (metal clips on the wall of a large artery), metallic prostheses (including metal pins and rods, heart valves, and cochlear implants), permanent eyeliner, implanted delivery pumps, or shrapnel fragments, metal fragments in the eye) will not be excluded but will not undergo magnetic resonance imaging. -Patients with tattoos above the neck or permanent make up will be excluded from undergoing 7T MRI.
Patients will be included if they
-Are age 18 or older
-Have been given a diagnosis by a neurologist of frontotemporal dementia, primary progressive aphasia, semantic dementia, motor neuron disorder, amyotrophic lateral sclerosis, progressive bulbar palsy, corticobasal neurodegenerative disorder OR
-Carry a mutation in a gene that causes familial ALS or FTD
EXCLUSION CRITERIA:
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, infectious diseases, peripheral neuropathy or radiculopathy or other significant neurological abnormalities.
-Have an unstable medical condition that, in the opinion of the investigators, makes participation unsafe
-Require daytime ventilator support at the time of study entry
-Are unable to travel to NIH
-Patients with pacemakers or other implanted electrical devices, brain stimulators, dental implants, aneurysm clips (metal clips on the wall of a large artery), metallic prostheses (including metal pins and rods, heart valves, and cochlear implants), permanent eyeliner, implanted delivery pumps, or shrapnel fragments, metal fragments in the eye) will not be excluded but will not undergo magnetic resonance imaging.
-Patients with tattoos above the neck or permanent make up will be excluded from undergoing 7T MRI.
Principal Investigator
Referral Contact
For more information: