- Active Arm
A group of participants who receives a treatment considered to be effective by health care providers.
- Adeno-Associated Virus 9 (AAV9)
A system used to deliver therapeutic genetic material into living tissue.
A pair of genes on a chromosome that determine the traits inherited from parents. Some examples of these traits are hair and eye color, height, dimples, and freckles.
- ALLFTD (ARTFL-LEFFTDS Longitudinal Frontotemporal Lobar Degeneration)
A 19-site research consortium that merges the ARTFL and LEFFTDS longitudinal studies to advance the understanding of FTLD and support the development of treatments for these progressive neurodegenerative disorders.
- Arm Assignment
The assignment of a group of participants in a clinical trial to receive interventions, or no interventions, as outlined in the study protocol.
Abnormal, irregular, or not conforming to what is normal or expected. It is often used to describe cells or body tissues that look unusual under a microscope.
- Autosomal Dominant
A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes.
- Autosomal Recessive
A pattern of inheritance in which an affected individual has two copies of the mutant gene.
- Baseline Assessment
An evaluation of participants as they enter a trial before receiving any treatment.
- Behavioral neurologist
A person who studies neurological damage and disease that changes a person’s behavior, personality, or intellect. Two fields associated with behavioral neurology are neuropsychiatry and neuropsychology.
- Behavioral variant frontotemporal degeneration (bvFTD)
The most common type of FTD, bvFTD affects the frontal and anterior temporal areas of the brain causing changes in thinking, personality, and behavior.
A valued or desired outcome of a clinical trial.
Systemic errors that encourage one outcome over another.
Fluid from the body that is excreted (such as urine or sweat), secreted (such as breast milk or bile), obtained with a needle (such as blood or cerebrospinal fluid), or developed as a result of a pathological process (such as blister or cyst fluid).
- Biomarkers (short for Biological Marker)
Something that can be measured to tell researchers about the normal or not normal (unusual) function of the body or the state of a condition or disease.
A medical test where body tissue is removed and looked at for the presence, absence, type, or extent of disease.
- Biospecimen (also called a specimen)
A sample of material, such as urine, blood, tissue, cells, DNA, RNA, or protein, that is stored and used in research.
- Cerebrospinal Fluid (CSF, also called spinal fluid)
The fluid that flows in and around the brain and spinal cord.
- Charged multivesicular body protein 2B (CHMP2B)
A very rare genetic mutation that causes permanent changes to a single building block in the CHMP2B gene. This mutation leads to two incorrect versions of the CHMP2B gene, which allows the ESCRT-III complex to build up and disrupt normal protein processes.
- Cisterna Magna
An area in the back of the head near the base of the brain.
- Citizen Scientist
The practice of public participation and collaboration in research to increase scientific knowledge. Through citizen science, people share and contribute to data monitoring and collection programs.
- Clinical Research
A type of study to learn the safety and effectiveness of drugs, devices, diagnostic products, and treatments for humans to prevent, treat, diagnose, or lessen symptoms of a disease.
- Clinical Study
A research study involving human volunteers (also called participants) to answer a specific health question.
- Clinical Trial (also known as Interventional Study)
A type of clinical study in which participants are assigned to groups and receive a treatment to help researchers learn the effects of the interventions on a health condition.
A health care professional who works directly with patients in a hospital, skilled nursing facility, clinic, or patient's home rather than in a laboratory or as a researcher.
Relating to thinking, learning, reasoning, understanding, or remembering.
- Cognitive Test
A series of questions and simple tasks to determine a person’s mental ability and status
A group or subgroup of participants in an observational study.
The disease, disorder, syndrome, illness, or injury that is being studied.
- Contact Registry
A type of registry that includes contact information and basic demographic data. A contact registry needs to collect enough information to determine who qualifies for a research study
- Control/Control Group
The group of individuals in a clinical trial assigned to a comparison intervention.
- Crossover Design (Crossover Study)
A type of clinical trial in which all participants receive the same two or more treatments, but the order in which they receive them depends on the group to which they are randomly assigned.
- Corticobasal Degeneration (CBD) / Corticobasal Syndrome (CBS)
A type of FTD that causes problems with movement, speech, memory, and swallowing.
- C9orf72 (also known as the FTD-ALS or C9 gene)
A mutation in the chromosome 9 gene open reading frame 72 allows a series of nucleotides to repeat too many times, which leads to abnormal function of proteins.
- Data and Safety Monitoring Board (DSMB) / Data and Safety Monitoring Committee (DSMC)
An independent group that analyzes data and watches for safety issues throughout an Interventional study.
The process used to prevent someone’s personal identity from being revealed in clinical studies.
Information about a person’s lifestyle and general characteristics.
- Disease Burden
The impact of a health problem on a population that is measured by financial cost, mortality, morbidity, or other indicators.
- DNA (deoxyribonucleic acid)
The material that carries all the information about how a living thing will look and function.
The amount of medicine taken, or radiation given, at one time.
- Double-blind Study
A type of study, used to prevent bias in research results, in which neither the participants nor the researchers know who is receiving a particular treatment.
- EEG (Electroencephalography)
A noninvasive test to record electrical activity of the brain, usually done with the electrodes placed along the scalp.
The ability of the intervention to produce the desired therapeutic effect on the disease or condition being studied.
- Eligibility Criteria
The requirements that people who want to participate in a clinical study must meet.
Newly created or noticed and growing in strength or popularity
The number of participants in a clinical study.
To destroy completely, eliminate, or put an end to something, such as curing FTD.
The cause or set of causes for a disease.
To judge or determine the importance, worth, or quality of something.
- Experimental Arm
An arm type in which a group of participants receives the intervention/treatment that is the focus of the clinical trial.
- Exclusion Criteria
A type of eligibility criteria. These are the reasons that a person is not allowed to participate in a clinical study.
To help cause a process or action.
- Familial FTD (f-FTD)
A type of FTD that occurs when multiple people in a family have FTD or a related neurodegenerative disease.
- FDG PET scan (also called fluorodeoxyglucose (FDG)-positron emission tomography (PET) scan)
An imaging test used to show patterns of altered glucose (sugar) metabolism in the brain; used as a biomarker for clinical diagnosis of neurodegenerative disorders causing dementia.
Monitoring a person's health over time after treatment.
- Food and Drug Administration (FDA)
The branch of the federal government that approves new drugs.
- Four Repeat Tauopathy Neuroimaging Initiative (4RTNI)
A multi-center observational, longitudinal clinical research study that seeks to develop biomarkers of disease progression to speed up the development of tests, treatments, and clinical trials for persons diagnosed with corticobasal degeneration (CBD), progressive supranuclear palsy (PSP), and some variants of frontotemporal lobar degeneration (FTLD).
- Frontal Lobe
The area in your brain behind your forehead.
- Frontotemporal degeneration (FTD)
A group of rare conditions that can affect a person’s behavior and ability to move or speak. The age of onset ranges from 21 to 80, with most cases occurring between 45 and 64. Currently, there is no known cure or treatment. Types of FTD include: Behavioral variant frontotemporal dementia (bvFTD), primary progressive aphasia (PPA), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and frontotemporal degeneration with amyotrophic lateral sclerosis (FTD-ALS).
- Frontotemporal degeneration with amyotrophic lateral sclerosis (FTD-ALS)
A type of FTD that affects the spinal cord, the nerves outside the central nervous system, and the frontal and temporal lobes of the brain. In addition to changes in behavior, personality and language skills that characterize FTD, people with FTD-ALS also have difficulty walking, standing, using their hands, speaking, swallowing, or breathing.
- FTLD (frontotemporal lobar degeneration)
An overall term that refers to a group of neurodegenerative conditions. Collectively, the various syndromes caused by FTLD are often referred to as frontotemporal dementia (FTD), but FTLD includes amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's Disease).
- Functional MRI (fMRI)
A test that uses magnetic fields to measure small changes in blood flow that take place with brain activity.
- Fused in sarcoma (FUS)
A very rare genetic mutation that causes permanent changes in single building blocks in the FUS protein. This mutation interferes with transport, which causes mRNA and FUS to be trapped and form clumps within nerve cells.
A DNA unit that contains information to build a specific protein.
- Gene Mutation
A permanent change in the DNA sequence that makes up a gene. FTD disease-causing mutations are most often seen in: C9orf72, microtubule-associated protein tau (MAPT), progranulin (GRN or PGRN), and valosin-containing protein (VCP).
- Gene Therapy
A treatment that alters genes in an attempt to treat or stop disease.
- Genetic Admixture
When previously isolated genetic lineages mix, resulting in new genetic lineages in a population.
- Genetic Counselor
A professional with advanced training in medical genetics and counseling who can interpret genetic test results and help people make decisions about their genetic health.
- Genetic Engineering
The process of using technology to change the genetic makeup of an organism.
- Genetic or Gene Testing
A type of medical test that discovers changes in chromosomes, genes, or proteins; usually performed by collecting blood or saliva.
- Genetic Information Nondiscrimination Act (GINA)
A U.S. law that protects people from discrimination based on genetic information when determining health insurance eligibility or rates and suitability for employment. GINA does not cover members of the military, and it does not apply to life insurance, disability insurance, or long-term care insurance.
- Healthy Volunteer
A person who does not have the disorder or disease being studied.
- Heterozygous Mutations
A permanent change of only one allele.
- Homozygous Mutations
An identical permanent change in both the paternal and maternal alleles.
- Imaging Marker (short for Imaging Biomarker)
A biologic feature detectable in an image related to a patient's diagnosis.
- Inclusion Criteria
A type of eligibility criteria. These are the reasons that a person is allowed to participate in a clinical study.
A sign, symptom, or medical condition that leads to the recommendation of a treatment, test, or procedure.
A reaction that causes redness, warmth, swelling, and pain as a result of infection, injury, or a disease.
A visual representation of information or data.
- Informed Consent
A process used by researchers to tell enrolled participants about the risks and benefits of the clinical study.
The process by which genetic information is passed on from parent to child.
- Institutional Review Board (IRB)
An independent group of people who follow U.S. Food and Drug Administration (FDA) regulations as they review and monitor research involving people to ensure they are handled ethically. It has the authority to approve, require changes prior to approval, and deny research.
A treatment or action taken to prevent or treat disease, or improve health in other ways.
- Interventional Study (also known as Clinical Trial)
A type of clinical study in which participants are assigned to groups and receive a treatment to help researchers learn the effects of the interventions on a health condition.
- Investigational Drug (also known as Study Drug)
The drug being evaluated in the clinical trial.
- Investigational Gene Therapy
A type of experimental treatment in which genetic material is put into a person's cells to prevent or fight disease.
- Lewy Body Dementia (also called dementia with Lewy bodies)
Protein deposits that develop in nerve cells in the brain areas which affect thinking, memory, and movement. It is the second most common type of progressive dementia after Alzheimer's disease.
The repeated observation or examination of a set of subjects over time with respect to one or more study variables.
- Lumbar Puncture (also called a spinal tap)
A medical test that takes fluid from the spine in the lower back through a hollow needle.
Organelles that breakdown cellular waste and get rid of extra proteins.
- Microtubule-associated protein tau (MAPT)
A mutation in this gene causes a permanent change to genes responsible for making tau protein. This mutation reduces the gene’s ability to bind, which interrupts many cell functions.
- Microtubule (MT)-Stabilizing Agent
A drug that binds to microtubules and stops cell division, which causes the cell to die.
- MRI (magnetic resonance imaging)
A test that uses magnetic fields to take detailed pictures of organs and body structures.
- Natural History Studies
A study that follows a group of people over time who have, or are at risk of developing, a specific medical condition or disease. Two of the largest FTD examples of these studies have been the ARTFL (Advancing Research and Treatment for Frontotemporal Lobar Degeneration) and the LEFFTDS (Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects) studies which have been combined into the ALLFTD (ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration) Study.
The progressive loss of structure or function of neurons, including the death of nervous tissue.
A protein that supports the structure of axons of the cytoskeleton.
A study of the role of genetics in the development and function of the nervous system.
- Neuroimaging Specialist
A person who operates the equipment that produces images to help doctors diagnose and treat illnesses.
- Neurological Examination (also called a neuro exam)
A series of questions and tests to check brain, spinal cord, and nerve function. The exam checks a person’s muscle strength, coordination, and memory.
The study and treatment of disorders of the nervous system, which includes the brain.
Brain cells specialized to carry important information to other nerve cells, muscle, or gland cells.
The study of diseases of the eyes and of the nervous system, which includes the brain.
The study of the functions of the nervous system.
A branch of medicine that deals with mental disorders attributable to diseases of the nervous system.
A psychologist who specializes in understanding the relationship between the physical brain and behavior.
- No Intervention Arm
An arm type in which a group of participants does not receive any intervention or treatment during the clinical trial.
- Next-Generation Sequencing (NGS)
Technology that offers ultra-high throughput, scalability, and speed. It is used to determine the order of nucleotides in entire genomes or targeted regions of DNA or RNA.
- Observational Study
A clinical study in which participants are identified as belonging to study groups and are watched over time for biomedical or health outcomes.
- Open-label Study
A type of study design where both the researchers and the participants know what drug is being given to which group of participants. Open-label trials are used to compare different treatments or gather more information on the long-term effects of new drugs.
- Orphan Drug
A medical agent developed to treat a rare disease due to its limited market.
- Outcome Measure
A specific measurement to evaluate the effect, both positive and negative, of an intervention on participants. Example outcomes are changes in health, function, or quality of life.
A patient who visits a health care facility for diagnosis or treatment without spending the night.
- Oxidative Stress
A phenomenon caused by an imbalance in the production and accumulation of oxygen reactive species (ROS) and the ability of a biological system to remove these reactive products.
Any disease that causes movement problems noted in Parkinson's disease — such as tremor, slow movement, impaired speech or muscle stiffness.
The process of putting the patient at the forefront to improve the overall experience.
- Personalized Medicine (also known as Precision Medicine)
The practice of using genetics, environment, and lifestyle of a person to customize medical decisions, treatments, practices, or products that may work best for them.
The way that one looks at something; the point of view.
- PET scan (positron emission tomography)
A test that uses a special radioactive dye to check for diseases in the body.
The study of how the body absorbs, distributes, and gets rid of the drug.
The study of the effects of drugs on the body.
- Phase/Trial Phases
The stage of a clinical trial studying a drug or other treatment, based on definitions developed by the Food and Drug Administration (FDA). These are broken out as Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4.
- Early Phase 1 (formerly listed as Phase 0) — A phase of research used to describe trials conducted to investigate how or whether a drug affects the body. Early Phase 1 happens before the traditional Phase 1.
- Phase 1 — A phase of research to describe clinical trials that focus on the safety of a drug.
- Phase 2 — A phase of research to describe clinical trials that gather preliminary data on whether a drug works in people who have a certain condition or disease.
- Phase 3 — A phase of research to describe clinical trials that gather more information about a drug's safety and effectiveness.
- Phase 4 — A phase of research to describe clinical trials occurring after the FDA has approved a drug for marketing.
- Pilot Study
The initial study that examines a new method or treatment.
An inactive pill or liquid that contains no medicine.
The liquid component of blood.
A one-time gene therapy designed to increase the progranulin levels in the brains of FTD-GRN patients.
Refers to the testing of experimental drugs in the test tube or in animals.
An action taken to decrease the chance of getting a disease or condition.
- Primary Completion Date
The date on which the last participant in a clinical study was examined or received an intervention.
- Primary progressive aphasia (PPA)
A type of FTD caused by the deterioration of brain tissue needed for speech and language. There are three subtypes of PPA: semantic variant primary progressive aphasia (svPPA), nonfluent/agrammatic variant PPA (naPPA), and logopenic variant PPA (lvPPA).
- Principal Investigator (PI)
The person who is responsible for the scientific and technical direction of the entire clinical study.
The right of an individual to be secure from unauthorized release of information to third parties.
A protein that plays an important role in maintaining normal functions in the central nervous system.
- Progranulin gene (GRN or PGRN)
A mutation in this gene causes a permanent change in the instructions for making the progranulin protein. This mutation reduces progranulin levels or results in loss of function.
- Progressive supranuclear palsy (PSP) (also called Richardson’s syndrome)
A type of FTD that affects movement, control of walking (gait) and balance, speech, swallowing, vision, mood and behavior, and thinking.
- Prospective Study
A research study following patients forward in time.
A person trained in administering and scoring tests that assess neuropsychological functioning. A psychometrist works under the supervision of a licensed neuropsychologist.
The study of how the mind and the brain interact.
The written description of a clinical study.
The process in which two or more treatments are assigned to volunteers by chance rather than by choice.
- Rare Disease
A disease that affects fewer than 200,000 people in the United States. Scientists estimate that FTD affects about 60,000 people.
The period during which a trial is attempting to identify and enroll participants.
An electronic database of information about individuals with a specific disorder or medical condition.
- REM Sleep (Rapid Eye Movement)
The dream stage of sleep.
The gathering of information designed to develop or contribute to knowledge about a topic.
Someone who studies a subject, especially in order to discover new information or reach a new understanding.
- Research Consortium
A group of diverse organizations that work together to identify best practices in research studies.
- Research Registry
A collection of information about individuals, usually focused around a specific diagnosis or condition to assess health outcomes. In some registries, patients and their families report the information. In others, the information is collected and reported by medical professionals.
- Retrospective Study
A research study looking back over past experience.
The probability of harm or injury occurring as a result of participation in a research study.
- Risk Factor
Something that may increase the chance of developing a disease.
- Sortilin (SORT1)
A protein that in humans is encoded by the SORT1 gene on chromosome 1. It is involved in the sorting, transport, recycling, and degradation of other proteins.
- Specimen (also called a Biospecimen)
A sample of material, such as urine, blood, tissue, cells, DNA, RNA, or protein laboratory tests or stored in a biorepository to be used for research.
- Spinal Fluid (also called Cerebrospinal Fluid - CSF)
The fluid that flows in and around the brain and spinal cord.
- Sponsored Genetic Testing Program (SGTP)
Genetic testing, and sometimes counseling, paid for by biopharma companies and provided to qualifying persons at no cost.
- Sporadic FTD (s-FTD)
A type of FTD that occurs when only one person in a family has the disease.
- Study Coordinator
A research professional who handles the daily activities for a clinical trial under the direction of a principal investigator.
- Study Drug (Investigational Drug)
The drug being evaluated in a clinical trial.
An individual whose reactions or responses to certain interventions are evaluated during a clinical trial.
- TDP-43 (Transactive response DNA-binding protein 43)
The major pathological protein in sporadic amyotrophic lateral sclerosis (ALS) and in the most common pathological subtype of FTD, frontotemporal lobar degeneration with ubiquitinated inclusions (FLTD-U).
- TAR DNA-binding Protein (TARDBP)
A very rare genetic mutation that causes permanent changes to amino acids in the TARDBP gene. This mutation usually affects only a part of the protein, leaving the other parts functional.
A protein that helps stabilize the internal skeleton of nerve cells (neurons) in the brain. When an abnormal form of tau builds up and forms tangles, scientists believe they are associated with multiple brain diseases.
- Temporal Lobe
The area in your brain behind your ears.
Related to the healing of disease.
- Therapeutic Agent
An active force or substance capable of producing an effect.
- Treatment Group
The group of participants who receive an experimental treatment.
- Valosin-Containing Protein (VCP)
A mutation in this gene causes a permanent change in the single protein building block in VCP genes. This mutation keeps the gene from breaking down protein, which causes buildup and affects normal cell function.
- Variance of Unknown Significance (VUS)
A genetic testing result in which the results are unknown.