NHF-Gene-Therapy-Flyer-Glossary - Gene Therapy Glossary

Sep 28, 2026

Gene Therapy Flyer Glossary defines foundational genetics, immunology, and clinical trial concepts. Entries include alleles and DNA structure terms, viral vectors such as adeno-associated virus and adenovirus, and immune components like antibodies, antigens, and cytokines. It also explains cellular and ex vivo approaches, protein building blocks, and CRISPR gene editing. Clinical trial methodology is summarized by phases (Phase 1–4) and related FDA definitions, helping readers interpret safety, effectiveness, and post-approval studies.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages3

Reading Time8 min

AccessFree to download

Glossary Terms

Gene and DNA Concepts

Viral Vectors and Gene Editing

Immune Response Terms

Cellular Therapy and Clinical Trial Phases

A • Allele: one of two or more alternative forms of a gene that arise by mutation and are found at the same place on a chromosome. • Adeno-Associated Virus: A single stranded DNA virus that has not been found to cause disease in humans. This type of virus is the most frequently used in gene therapy.1 • Adenovirus: A member of a family of viruses that can cause infections in the respiratory tract, eye, and gastrointestinal tract. • Adeno-Associated Virus Vector: Adeno viruses used as vehicles for genes, whose core genetic material has been removed and replaced by the FVIII-or FIX-gene • Amino Acids: building block of a protein • Antibody: a protein produced by immune cells called B-cells in response to a foreign molecule; acts by binding to the molecule and often making it inactive or targeting it for destruction • Antigen: a type of molecule that can initiate an immune response • Autophagy: the destruction of damaged or redundant cellular components occurring within the cell. C • Capsid: the protein shell of a virus that encloses the genetic material of the virus2 • Chromosome: a structure of a very long deoxyribonucleic (DNA)molecule stabilized by flanking proteins, altogether carrying hereditary (genetic) information (genes) of an organism • Cell: the basic structural and functional unit of all living organisms containing a nucleus with genetic information, organelles, cytoplasm and elements for energy production; building block of an organism • Cellular Therapy: transferring cells into a person to improve disease outcomes. • Clinical Trials – NIH defines a clinical trial as research study in which one or more human subjects are assigned in advance to one or more interventions (which may include placebo or other control) to evaluate the effects of those interventions on health-related biomedical or behavioral outcomes. 3 • Phase: The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U. S. Food and Drug Administration (FDA) . The phase is based on the study’s objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.4 • Phase 1: A phase of research to describe clinical trials that focus on the safety of a drug. They are usually conducted with healthy volunteers, and the goal is to determine the drug’s most frequent and serious adverse events and, often, how the drug is broken down and excreted by the body. These trials usually involve a small number of participants.5 • 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/disease (that is, the drug’s effectiveness) . For example, participants receiving the drug may be compared to similar participants receiving a different treatment, usually an inactive substance (called a placebo) or a different drug. Safety continues to be evaluated, and short-term adverse events are studied.6 • Phase 3: A phase of research to describe clinical trials that gather more information about a drug’s safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs. These studies typically involve more participants.7 • Phase 4: A phase of research to describe clinical trials occurring after FDA has approved a drug for marketing. They include post market requirement and commitment studies that are required of or agreed to by the study sponsor. These trials gather additional information about a drug’s safety, efficacy, or optimal use.8 • Codon: a sequence of three nucleotides in DNA or RNA that gives instructions to add a specific amino acid to an elongating protein • CRISPR: a family of DNA sequences that can be cle

FAQs

What is an allele and how does it relate to genes?

An allele is one of two or more alternative forms of a gene that arise by mutation and are found at the same place on a chromosome.

How do adeno-associated virus and adenovirus relate to gene therapy?

Adeno-associated virus is a single-stranded DNA virus not found to cause disease in humans and is frequently used in gene therapy. Adenovirus can cause infections, and adeno-associated virus vectors are used as vehicles for genes after core genetic material is removed and replaced with a therapeutic gene such as FVIII or FIX.

What are the main phases of clinical trials described in the glossary?

The glossary defines five FDA-based phases: Early Phase 1 (formerly Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. It also notes that Not Applicable is used when trials lack FDA-defined phases, such as device or behavioral interventions.

Sep 28, 2026

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