Research Terms A-Z

Adverse event 

A negative health problem or side effect that happens during a study, which may or may not be caused by a treatment.

Antisense Oligonucleotide (ASO)

A type of disease-modifying therapy that uses short pieces of genetic material to target and modify gene expression. In Dravet syndrome, ASOs usually aim to increase the activity of the SCN1A gene.

Baseline period

A period of time before a trial or study begins. Monitoring in this period shows how life and symptoms look for a participant every day, without the new intervention. This is used to compare what happens after the treatment starts.

Basic research

Research often, but not always, done in a lab to better understand a condition. This might use cells, animal models, computer models or human participants, and may not have an immediate practical treatment in mind.

Basket trial

A clinical trial looking at a treatment or therapy across multiple conditions linked by either their cause or symptoms. For example, trials looking at treatments for DEEs. Everyone in the trial receives the same treatment, even though they may have different but related conditions.

Biomarker

A clinically measurable bodily function or outcome (for example, heart rate or amount of a substance such as a protein in blood). These are used to tell with certainty whether a treatment or therapy works, how a condition is progressing, or to help with diagnosis.

Cells

The basic building blocks that make up all living things.

Clinical trial 

A test of a new treatment or therapy looking at safety and how well it works. These are run by pharmaceutical companies and have to meet certain criteria, ethics and standards set by the regulatory authorities.

Comorbidities

When someone has more than one condition at the same time. For example, people living with Dravet Syndrome have epilepsy AND intellectual disability,

Control 

A group to compare to that does not receive the new treatment. This group might receive placebo, sham, or the current standard treatment.

Cross-sectional study 

A type of study where different groups of people are assessed at one time point. This gives some insight into how a condition looks across different groups (for example different ages) but doesn’t take into account the condition state before or after the study, as a longitudinal study would.

Developmental and epileptic encephalopathies (DEE) 

A group of conditions where the underlying cause, often genetic , causes epilepsy and developmental delays. The developmental delays seen in these conditions are contributed to by the epilepsy, but are also caused by the gene and a defining part of the condition.

Disease modifying treatment 

A treatment targeting the underlying cause of a condition, for example the gene, rather than managing symptoms. Disease-modifying treatments aim to impact different aspects of the condition. For Dravet syndrome, this often means targeting SCN1A rather than only trying to reduce seizures.

DNA

Deoxyribonucleic acid (abbreviated to DNA) is a molecule that carries our unique genetic information. It holds the instructions for making the proteins in our bodies.

Dosing trial

A trial exploring different doses of a new treatment. This means that participants will receive different doses. These generally start with a smaller dose that is monitored for safety. If this is deemed safe, a higher dose is given and monitored for safety. This continues until the dose that was best in basic research is reached safely. In some cases, there may be an option for those on smaller doses to receive the higher doses in later stages or an open label extension. 

Double blind

A type of trial design where neither the participant nor the doctor/researcher know whether the participant received treatment or placebo/control.

Drosophila

A small fly used as a model organism in lab research.

Efficacy

How well a treatment works against a set of endpoints. For example, how much it reduces seizure frequency compared to placebo.

Endpoint 

A measurable outcome used to see if a treatment works. Trials usually have several endpoints, such as seizure change and quality of life scores.

Exclusion criteria

Characteristics that would stop a person from taking part in a study or trial. 

Expression

How much of something is made in the body. Often referring to how active a gene is and how much of its related protein is produced.

Gastronomy

A surgical opening through the skin of the abdomen to the stomach which can be used to insert a tube for feeding.

Health technology assessment (HTA) 

Assessments of new medications and other health technologies done by regulatory authorities. In the UK this looks at how effective and how cost-effective a treatment is for the NHS.

Host cell

A cell that can be invaded by infectious bacteria or a virus.

Hypothesis

A prediction or theory that is being tested by a study or trial. For example, testing the hypothesis that people with Dravet Syndrome have difficulty getting to sleep.

Inclusion criteria

The characteristics needed to be considered for a study or trial.

Informed consent

Agreeing to do something once you have received and understood all of the relevant information, including risks. In research with children, parents or carers usually give consent, and older children may also be asked for assent (their agreement).

Intraventricular 

A method of giving medication directly to the brain by injecting into fluid-filled spaces (ventricles) of the brain.

iPSC

Induced pluripotent stem cells (iPSC) are a type of model where people living with a health condition can give their cells to a lab who will be able to create models, including organoids, from them. Scientists can turn into other cell types, like brain cells, to study a condition and test treatments.

Intrathecal / Lumbar puncture

A method of giving medication directly into the fluid around the brain and spinal cord (the cerebrospinal fluid) using a needle in the spine. This allows the drug to reach the brain and spinal cord more directly than medicines taken by mouth or given into a vein. Intrathecal medicines are usually given during a lumbar puncture

Knock-in

A way of creating an animal model  by precisely inserting or changing a small part of a gene to exactly match a human disease mutation.

Knock-out

A way of creating an animal model by permanently switching off (inactivating) a specific gene so it produces no protein at all. This helps researchers see what happens when the gene is completely missing.

Longitudinal 

A type of study that follows the same people over time. Researchers collect information at several time points, for example yearly questionnaires or clinic visits.

Lumbar puncture (spinal tap)

A procedure where a thin needle is placed into the lower back, between the bones of the spine, to reach the fluid around the brain and spinal cord. This can be done to take a sample of fluid for tests, or to give medicines such as intrathecal treatments.

MHRA

The UK regulatory authority for deciding whether to allow medications to be used in the UK based on success in clinical trials.

Multiple ascending dose

The same participant receives different doses of the treatment. Dose increases over the course of the trial. This allows researchers to see both safety and how the body responds to repeated doses.

Mutation

A change in the DNA of a cell which can happen when it divides.

Natural History

How a disease progresses over time. 

Natural history study

A study that follows the same people over time to see how different aspects of their condition changes as they age. These studies give us a complete picture of the progression of a condition from all aspects and allow us to have a better idea of what the future looks like. This means we can better manage conditions and intervene at the right time, as well as track how well new treatments are working. 

NICE

The UK body for deciding whether to recommend new treatments on the NHS.

Open label extension 

A phase of clinical trials that comes after the trial is complete but before a decision has been made by regulatory authorities about whether the new treatment should be available to the public. Participants on the trial are allowed to stay on the new treatment (if they want to) before it has been approved. This can sometimes mean that even if a participant is in the placebo/sham control group, they may be able to access the new treatment in the open label extension before those who didn’t take part in the trial.

Organoid

‘Mini organs’ grown from cells in the lab that behave a bit like real organs, such as the brain, and are used to test potential treatments. These have the benefit of not using animals in research, but can’t look at interactions between organs.

Pathogenic variants

A type of gene mutation that increases someone’s likelihood of developing a certain disease. In Dravet Syndrome, pathogenic mutations are often in the SCN1A gene.

Phase I

A small clinical trial looking at the safety of a new treatment. These are sometimes in healthy controls or patients. These are often the first time a treatment is given to humans after positive results in animals in the lab.

Phase II

A clinical trial that tests both safety and efficacy in a larger group of patients than Phase I, helping to determine the optimal dose and whether the treatment shows promise. In rare diseases, phase I and II are often combined.

Phase III

Large clinical trials looking at how well a treatment works against a set number of criteria called endpoints. These trials are usually needed before a treatment can be assessed by HTAs.

Placebo

An inactive treatment. Participants in a trial will still be given a similar-looking product that contains no active treatment.

Placebo effect

A phenomenon seen when people see changes to symptoms when not given an active treatment. This happens because people believe or expect they will see a change.

Preclinical research

Research of a new treatment done in cells and animal models before being given to humans. 

Prospective

A type of longitudinal study mapping a condition or treatment over time. Participants are followed from the study start and into the future. 

Randomised control

Participants are allocated to a treatment or control group randomly. This is important as it means any change seen in the treatment group is less likely to be due to a placebo effect or differences between groups at the start.

Regulatory authority

Organisations in charge of making decisions around approving medications based on evidence from clinical trials.

Retrospective 

A type of study following people over time by looking back at how their condition has changed over time. Medical records or previous survey answers may be used.

RNA

RNA is a molecule which carries messages to DNA. It can also carry genetic code.

Sham 

A type of control used when a trial is looking at invasive procedures to replicate the procedure without giving the treatment/technology. For example, doing all the same steps except delivering the active drug.

Single ascending dose 

A trial design where different participants receive different doses of a treatment. Participants treated earlier receive a lower dose of the treatment to check for safety, before the next participant is given a higher dose. If deemed safe, this continues until the dose with the best efficacy in basic research is reached. 

Status epilepticus

A prolonged seizure lasting 5 minutes or more, or repeated seizures without recovery in between, which requires emergency medical treatment.

Study 

A piece of research not testing a new treatment but increasing our understanding of a condition. This can include surveys, interviews, or analyses of medical records.

Titration (of medication)

Slowly changing the dose of a medicine over time to find the dose that works best with the fewest side effects. This can mean increasing the dose step by step (sometimes called “up‑titrating”) or gradually reducing it (“down‑titrating”), rather than making a big change all at once.

Translational research

Research moving from the lab to humans or clinics

Trial

Research looking at the impact of a new treatment or therapy and testing a hypothesis of improvement of symptoms. 

Vector

A tool to deliver genetic material into cells. It could be a virus that is used to carry a particular DNA into a host cell. This is used to change the DNA of the host cell.

Viral Vector

A type of virus researchers can use to deliver genetic material into cells.

Wild type

An animal model used as a “typical” or “healthy” comparison in research. These are often used as a control.