Frontotemporal DementiaNCT03225144
Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
An observational study of Frontotemporal Dementia and Amyotrophic Lateral Sclerosis, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 110 years
- Conditions the study is for
- Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, Progressive Supranuclear Palsy
- How many people
- 360 participants
- Where
- 1 siteUnited States
- Study dates
- 11 Oct 2017to 30 Oct 2027
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 110 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Adults with a diagnosis of ALS, FTD, or a related adult-onset neurodegenerative disorder
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY8664111010, prpl@cc.nih.gov
About this study
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.
Read more
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.
...
Read the 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, 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.
- Keywords
- TDP-43, Progressive Supranuclear Palsy, Motor Neuron Disease, Frontotemporal Dementia, Corticobasal Syndrome, Natural History
- Medical subject headings
- Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, Supranuclear Palsy, Progressive, Motor Neuron Disease, Corticobasal Degeneration
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Clinical information
Clinical information will be analyzed as part of our research to identify common features and differences among participants.
Measured: 10/30/2027
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jul 2017
- Study start11 Oct 2017
- Primary completion30 Oct 2027 (estimated)
- Study completion30 Oct 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Frontotemporal DementiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 360 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Justin Y Kwan, M.D., Principal investigator, National Institute of Neurological Disorders and Stroke (NINDS)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03225144
- Sponsor's protocol ID
- 170131
- Other IDs
- 17-N-0131
- Status last verified
- 15 Sep 2026
- First submitted
- 20 Jul 2017
- Last updated
- 16 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Undecided.
Publications
Snowden JS, Adams J, Harris J, Thompson JC, Rollinson S, Richardson A, Jones M, Neary D, Mann DM, Pickering-Brown S. Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations. Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(7-8):497-505. doi: 10.3109/21678421.2015.1074700. Epub 2015 Oct 16.
PubMed 26473392Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium; Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21.
PubMed 21944779