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

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
Recruitment Status : Recruiting
First Posted : July 21, 2017
Last Update Posted : July 27, 2020
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) )

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.


Condition or disease
Frontotemporal Lobar Degeneration Amytrophic Lateral Sclerosis Progressive Supranuclear Palsy

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 disorder 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 or FTD. 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 that cause familial FTD or ALS.

Design

Participants will all undergo clinical tests to confirm diagnoses and to stage disease severity, including a standard battery of tests to measure cognitive and motor function. 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.

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Study Type : Observational
Estimated Enrollment : 200 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
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



Primary Outcome Measures :
  1. eligibility for protocols [ Time Frame: 10/30/2025 ]
    The determination of whether patients have a diagnosis that is eligible for inclusion in other protocols is the only outcome.



Information from the National Library of Medicine

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.


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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
Study Population
Adults with a diagnosis of ALS, FTD, or a related adult-onset neurodegenerative disorder
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, frontotemporal lobar degeneration, 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.

Information from the National Library of Medicine

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


Contacts
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Contact: Carol H Hoffman (301) 451-1229 carol.hoffman@nih.gov

Locations
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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   
Contact: Jennifer Farren    (301) 496-5526    jennifer.farren@nih.gov   
Sponsors and Collaborators
National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
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Principal Investigator: Justin Y Kwan, M.D. National Institute of Neurological Disorders and Stroke (NINDS)
Additional Information:
Publications:
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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: July 27, 2020
Last Verified: July 21, 2020

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) ):
TDP-43
Progressive Supranuclear Palsy
Motor Neuron Disease
Frontotemporal Dementia
Corticobasal Syndrome
Additional relevant MeSH terms:
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Dementia
Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Supranuclear Palsy, Progressive
Frontotemporal Dementia
Aphasia, Primary Progressive
Pick Disease of the Brain
Frontotemporal Lobar Degeneration
Neurodegenerative Diseases
Sclerosis
Pathologic Processes
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurocognitive Disorders
Mental Disorders
Neuromuscular Diseases
Spinal Cord Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases
Basal Ganglia Diseases
Movement Disorders
Ophthalmoplegia
Ocular Motility Disorders
Cranial Nerve Diseases
Tauopathies
Paralysis
Neurologic Manifestations
Eye Diseases