ClinicalTrials.gov record NCT03225144
Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This is a prospective observational study that evaluates and characterizes adults referred with ALS, frontotemporal dementia, or related adult-onset neurodegenerative disorders, and includes presymptomatic gene carriers. Participants undergo a screening visit with clinical, cognitive, motor and behavioral assessments and may opt in to imaging and biospecimen collection. The study builds a registry and resource of clinical and laboratory data for research and to assess eligibility for other protocols.
What it is studying. The study tests whether detailed clinical assessment, imaging, and collected biospecimens can be used to characterize people across the ALS–FTD spectrum, to identify common features and differences, and to determine eligibility for ongoing research protocols.
What the researchers hope to learn. Primary: evaluate referred patients to assess eligibility for ongoing protocols. Secondary: develop and maintain a registry of clinically characterized patients and presymptomatic gene mutation carriers. Exploratory: obtain biospecimens for laboratory studies of molecular pathways and genetic overlap across these disorders, and perform 7-tesla MRI studies to identify imaging biomarkers of neurodegeneration.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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.
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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.
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Show the detailed description from the registry
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, leukapheresis, 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.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Participants have a screening visit (may take place over 2–3 days) with medical history, physical exam, questionnaires about behavior and mood, and tests of memory, attention, and thinking. Movement will be measured (standing up, tapping, walking) and some movements, speech, and reading may be videotaped. Tests may include blood draws (possibly genetic testing), lung/breathing tests, MRI (some with IV dye), electromyography (needle into muscles), nerve studies, skin biopsy, leukapheresis, and optional lumbar puncture; skin or blood samples may be used to create stem cells. Some research procedures are optional and, if you are not eligible for current studies, you may be contacted about future research.
How the study is structured. A prospective observational cohort. Participants have a screening visit (may take 2–3 days) with medical history, physical exam, cognitive and motor tests, movement videotaping, blood draws (including optional genetic testing), breathing tests, MRI (some with contrast, some with 7T MRI), electromyography and nerve studies, optional skin biopsy, possible leukapheresis to collect cells for research, and an optional lumbar puncture. Clinical data and biospecimens are collected and entered into a registry for future research and analysis.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
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Important dates
- Study start
- Oct 11, 2017
- Primary completion
- Oct 30, 2027 (estimated)
- Study completion
- Oct 30, 2027 (estimated)
- Target enrollment
- 360 participants (estimated)
- Last updated on registry
- Sep 17, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Carol H Hoffman 📞 (301) 451-1229 ✉ carol.hoffman@nih.gov
- Justin Y Kwan, M.D. 📞 (301) 496-7428 ✉ justin.kwan@nih.gov
Participating sites (1)
- National Institutes of Health Clinical CenterRecruiting
Bethesda, Maryland, 20892 · United States
- For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) · 800-411-1222 ext. TTY8664111010 · prpl@cc.nih.gov
Terms used on this page · explanations by MedicalUpdates.ai
- screening visit
- The checks done before enrolment to see whether a person qualifies, such as tests, scans or a review of medical history.
- MRI
- A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
- lumbar puncture
- A procedure in which a needle is placed between the bones of the lower back to collect spinal fluid or to give a treatment.
- INCLUSION CRITERIA
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- EXCLUSION CRITERIA
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
- primary objective
- The main result the study is designed to measure and report on. Other results, called secondary outcomes, are also collected.
- secondary objective
- An additional result the study measures alongside the primary outcome, for example quality of life or a laboratory value.
- registry
- An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
- biospecimens
- A collection of biological samples, such as blood or tissue, stored with medical information so that researchers can study them later.
- biomarkers
- Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
- biopsy
- Removal of a small piece of tissue so it can be examined under a microscope. 'Biopsy-proven' or 'histologically confirmed' means the diagnosis was confirmed by examining tissue under a microscope.
- Outcome measures
- Something the study measures to judge its results, such as a symptom score, a blood test or survival. Outcomes are grouped as primary, secondary and sometimes exploratory.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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