Frequently Asked Questions

A “caregiver” is anyone who provides care for another person. They might also be called a care partner. There are different kinds of caregivers, like family caregivers and respite caregivers. Caregivers can help relieve burdens and support people who need help. They may help for a long time or just a short time, but their care is always important.

A unique identification code given to each clinical study when it is registered on each global registry.

The disease, disorder, syndrome, illness, or injury that is being studied in the clinical trial.

A potential way for patients diagnosed with a serious and/or life-threatening disease or condition to get an investigational (pre-approval) treatment outside of a clinical trial when no other approved treatment options are available. Early Access Programs are often called Expanded Access Programs (EAPs), Compassionate Use Programs (CUPs), or Managed Access Programs.

In these trials, neither the researchers nor the participants know which treatment each participant is getting. This helps prevent bias, because knowing which treatment someone is getting can affect how researchers observe and interpret results. At the end of the clinical trial, the results are “unmasked” or “unblinded” so that sponsors can see the outcomes for each treatment group.

Results that show the clinical trial intervention has a desired therapeutic effect on the disease or condition being studied.

All clinical trials have rules about who can join. These rules, also called “inclusion/exclusion criteria,” help make sure the results are reliable.

• Inclusion criteria are the factors that allow someone to join a clinical trial
• Exclusion criteria are factors that prevent someone from joining

These criteria can be based on

• Age
• Sex
• The type and stage of a disease or condition
• Previous treatment history
• Other medical conditions

Some studies need participants with specific diseases or conditions, while others need healthy volunteers. These criteria are not used to reject people personally. Instead, they help find the right participants to answer the study questions and to keep clinical trial participants safe.

The number of participants in a clinical trial. The "estimated" enrollment is the target number of participants that the sponsor needs for the study.

The aim of gene therapy is to fix a faulty gene, or replace it with a healthy copy, to help treat or improve the diseease. Rather than treating symptoms, these therapies aim to treat the underlying genetic cause of the disorder with just one or a few treatments over time. Many rare diseases are caused by changes (or mutations) in a single gene, so gene therapy has the potential to make a big difference. Gene therapies can work in several ways:

• Replacing a disease-causing gene with a healthy copy of the gene
• Inactivating a disease-causing gene that is not working properly
• Adding a new or modified gene into the body to help treat a disease

However, gene therapy may not always work. And once it is given, it cannot be stopped or taken out.

Effective regulation of medicines involves several tasks such as:

• Evaluating the safety and efficacy data from clinical trial
• Licensing and inspecting manufacturing facilities and distribution channels
• Monitoring adverse drug reactions for investigational and marketed drugs
• Controlling drug promotion and advertising

In some countries, a single agency handles all functions related to drug regulation. In others, state or provincial governments have some regulatory authority.

Examples of regulatory agencies are:

• The US Food and Drug Administration (FDA)
• The Japanese Pharmaceuticals and Medical Devices Agency (PMDA)
• The European Medicines Agency (EMA)
• The Chinese National Medical Products Administration (NMPA)

Also called a clinical trial. In an interventional study, participants are put into groups that get one or more interventions or treatments, or a placebo. That way sponsors can see the how the interventions affect the health of the participants. The study’s protocol describes how participants will be assigned to treatment groups. Participants may get diagnostic, therapeutic, or other types of interventions.

Someone who has the legal authority and responsibility to care for another person. This could be a child, an adult who cannot take care of themselves, or a person with disabilities. The guardian makes decisions on their behalf. They may also be called a personal guardian, a custodial guardian, or a special guardian.

A drug, combination of drug, vaccine, device, or procedure that is currently under study to evaluate its safety and effectiveness. It has not yet been approved by government regulatory agencies for the condition being studied.

Something that is meant to treat, prevent, or diagnose a disease or medical condition. It can be a single substance, a combination of substances, a device, or a mix of both.

Also called an observational study. This is a study that observes people receiving routine care, rather than assigning them to a specific treatment or intervention. In these studies, the clinical trial team may do interviews, ask for questionnaires to be filled out, take blood samples, and follow-up with patients as part of normal care.

Natural history studies are also a type of non-interventional study. They help researchers better understand a specific disease or condition. These studies watch how the disease naturally progresses over time, without giving any investigational treatment or intervention. They are important for rare diseases, like those being studied in the gene therapy. These studies are done because researchers may not yet fully understand how the condition affects people in the short and long term.

In these trials, the participants do not know which treatment they are getting, but the researchers and staff know. This helps reduce the placebo effect, where participants may respond differently simply because they know what treatment they are getting. A single-masked trial is also known as a single-blind trial.

A research plan that is carefully designed to balance the potential benefits and risks to clinical trial participants and answer specific research questions. It describes the goal of the clinical trial, who can join the trial, which treatments they will get, and what study procedures and tests will be used. It also lists the questions the sponsor wants to answer, how long the trial will last, the rules the trial will follow, and how the sponsor will protect participants’ privacy and safety.

The organization or person who initiates the clinical trial and has control over it. Clinical trials can be sponsored or funded by many different types of groups or people. These include doctors, medical institutions, foundations, volunteer groups, and pharmaceutical companies. Some federal or government regulatory agencies may also be sponsors.

“Standard of care” means the currently accepted best treatment option that is widely used for a specific disease or health condition.

The use of communication technologies, like video calls or online platforms, to get healthcare services from a distance, without having to go to a doctor’s office. Telehealth is sometimes called “telemedicine.”