Brief Title
Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Official Title
Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Brief Summary
Background:
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.
Detailed Description
Objectives
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. The exploratory objectives are 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 and to perform 7 tesla magnetic resonance imaging studies to
identify imaging biomarkers of neurodegeneration.
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
Design
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.
Study Type
Observational
Primary Outcome
Clinical information
Condition
Frontotemporal Dementia
Study Arms / Comparison Groups
Patients
Description: patients who are referred with a diagnosis of frontotemporal dementia, motor neuron disorder, or related adult-onset neurodegenerative disorder to assess patient eligibility for ongoing protocols
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Estimated Enrollment
300
Start Date
October 11, 2017
Completion Date
October 30, 2025
Primary Completion Date
October 30, 2025
Eligibility Criteria
- 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.
- Patients with tattoos above the neck or permanent make up will be excluded from
undergoing 7T MRI.
Gender
All
Ages
18 Years - N/A
Accepts Healthy Volunteers
No
Contacts
Justin Y Kwan, M.D., (301) 451-1229, [email protected]
Location Countries
United States
Location Countries
United States
Administrative Informations
NCT ID
NCT03225144
Organization ID
170131
Secondary IDs
17-N-0131
Responsible Party
Sponsor
Study Sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
Study Sponsor
Justin Y Kwan, M.D., Principal Investigator, National Institute of Neurological Disorders and Stroke (NINDS)
Verification Date
January 25, 2023