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

  • End date
    Oct 30, 2025
  • participants needed
  • sponsor
    National Institute of Neurological Disorders and Stroke (NINDS)
Updated on 4 October 2022
blood tests
screening procedures
neurodegenerative disorders
frontotemporal lobar degeneration
tau protein
primary lateral sclerosis
frontotemporal dementia
progressive bulbar palsy
genetic testing
amyotrophic lateral sclerosis
dementia, frontotemporal
semantic dementia
abnormal protein



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.


To test people with movement or thinking and memory problems to see if they are eligible for research studies.


People ages 18 and older with a neurodegenerative disorder associated with accumulation of TDP-43 or Tau proteins


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.



The primary objective is to evaluate patients referred with a diagnosis of frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or related adult-onset neurodegenerative disorders to assess patient eligibility for ongoing protocols. The secondary objective is to develop and maintain a registry of characterized patients and presymptopmatic carriers of gene mutations that cause ALS-FTD spectrum disorders. An exploratory objective is to obtain biospecimens from clinically characterized patients to carry out laboratory-based studies aimed at understanding the molecular pathways and genetic overlap between these neurodegenerative disorders.

Study population

Adults referred with clinical diagnoses of frontotemporal dementia, motor neuron disorder, or related adult-onset neurodegenerative disorder. Presymptomatic carriers of genes known to cause familial FTD or ALS


All participants will undergo clinical tests to confirm diagnoses and to stage disease severity, including a standard battery of tests to measure cognitive and motor functions. Participants may opt-in for research procedures such as phlebotomy, skin biopsy, and lumbar puncture to obtain biospecimens for laboratory research, and magnetic resonance imaging or transcranial magnetic stimulation may be used to explore biomarkers of disease.

Outcome measures

Clinical information will be analyzed as part of our research to identify common features and differences among participants.

Condition Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, Progressive Supranuclear Palsy
Clinical Study IdentifierNCT03225144
SponsorNational Institute of Neurological Disorders and Stroke (NINDS)
Last Modified on4 October 2022


Yes No Not Sure

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 syndrome, Huntington disease or other related adult-onset 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
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How to participate?

Step 1 Connect with a study center
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
  • Sign up as volunteer  to help accelerate the development of new treatments and to get notified about similar trials.

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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

Learn more

If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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