Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
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The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. |
| ClinicalTrials.gov Identifier: NCT03225144 |
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Recruitment Status :
Recruiting
First Posted : July 21, 2017
Last Update Posted : January 27, 2023
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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.
| Condition or disease |
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| Frontotemporal Dementia Amyotrophic Lateral Sclerosis Progressive Supranuclear Palsy |
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 |
| Estimated Enrollment : | 300 participants |
| Observational Model: | Cohort |
| Time Perspective: | Prospective |
| Official Title: | Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia |
| Actual Study Start Date : | October 11, 2017 |
| Estimated Primary Completion Date : | October 30, 2025 |
| Estimated Study Completion Date : | October 30, 2025 |
| Group/Cohort |
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Patients
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
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- Clinical information [ Time Frame: 10/30/2025 ]Clinical information will be analyzed as part of our research to identify common features and differences among participants.
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
| Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
- 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03225144
| Contact: Carol H Hoffman | (301) 451-1229 | carol.hoffman@nih.gov | |
| Contact: Justin Y Kwan, M.D. | (301) 496-7428 | justin.kwan@nih.gov |
| United States, Maryland | |
| National Institutes of Health Clinical Center | Recruiting |
| Bethesda, Maryland, United States, 20892 | |
| Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 prpl@cc.nih.gov | |
| Principal Investigator: | Justin Y Kwan, M.D. | National Institute of Neurological Disorders and Stroke (NINDS) |
Publications:
| Responsible Party: | National Institute of Neurological Disorders and Stroke (NINDS) |
| ClinicalTrials.gov Identifier: | NCT03225144 |
| Other Study ID Numbers: |
170131 17-N-0131 |
| First Posted: | July 21, 2017 Key Record Dates |
| Last Update Posted: | January 27, 2023 |
| Last Verified: | January 25, 2023 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | Undecided |
| Plan Description: | .Undecided. |
| Studies a U.S. FDA-regulated Drug Product: | No |
| Studies a U.S. FDA-regulated Device Product: | No |
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TDP-43 Progressive Supranuclear Palsy Motor Neuron Disease |
Frontotemporal Dementia Corticobasal Syndrome Natural History |
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Dementia Motor Neuron Disease Amyotrophic Lateral Sclerosis Frontotemporal Dementia Aphasia, Primary Progressive Pick Disease of the Brain Supranuclear Palsy, Progressive Neurodegenerative Diseases Sclerosis Pathologic Processes Brain Diseases Central Nervous System Diseases Nervous System Diseases Neurocognitive Disorders Mental Disorders |
Tauopathies Neuromuscular Diseases Spinal Cord Diseases TDP-43 Proteinopathies Proteostasis Deficiencies Metabolic Diseases Frontotemporal Lobar Degeneration Aphasia Speech Disorders Language Disorders Communication Disorders Neurobehavioral Manifestations Neurologic Manifestations Basal Ganglia Diseases Movement Disorders |