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From Diagnosis to Treatment: Opportunities for Gene Therapy Research

Disclaimer: This article has been created and sponsored by BioMarin Pharmaceutical Inc. in an effort to raise awareness of the role of gene therapy in rare diseases such as hereditary angioedema (HAE) and their HAErmony-1 Study.

Gene therapies can offer new opportunities to individuals with a rare disease to participate in research. But what exactly is gene therapy, and how do you know if participating in research could be right for you? We’re here to help you better understand the role gene therapy research can play in the treatment journeys of those living with rare disease.

How are diseased genes identified?

To better understand how gene therapy research is approaching people living with rare diseases, let’s do a quick biology review. A gene is the basic unit of inheritance. Genes are like blueprints guiding cell behavior, informing traits from eye color to height. Sometimes, a gene that passes from a parent to a child is damaged. This is called a germline mutation and can cause a cell to behave incorrectly, resulting in disease. Genetic testing aims to identify germline mutations that may lead to or support a suspected diagnosis. 

What are investigational gene therapies?

Identifying mutations is important for diagnosis and to determine eligibility to participate in a clinical study. Gene therapies are under investigation for various disease conditions where a gene fails to work properly. In some cases, gene therapies aim to repair defective genes while in others, the goal is to add healthy genes to the body to do the work the defective gene cannot. 

How are gene therapies administered?

Scientists rely on special carriers called vectors to introduce gene therapies into cells. The most commonly used vectors are viruses. Scientists edit the virus, replacing the disease-causing genes which are normally present in the virus with the gene they are seeking to fix. The vector is neutralized. Stem cells (the cells from which other cells are created) and liposomes (fatty particles) are other common vectors. The type of vector used and the way it is administered depends on the disease being researched, and the gene being targeted. In one type of gene therapy, blood or bone marrow is removed from the participant’s body and the vector is introduced to the participants cells in a lab before being injected back into the participants’ body. 

How could gene therapy research provide new opportunities for those living with a rare disease like Hereditary Angioedema?

Hereditary angioedema (HAE) is one rare disease where investigational gene therapy is being tested in clinical research studies as a possible treatment option. This genetic condition is characterized by repeated occurrences of severe swelling throughout the body, especially in the hands, feet, genitals, face, and throat. When swelling of the face and throat occurs, it threatens to block a person’s airway. This is a potentially fatal medical emergency that requires immediate medical attention. Studies of families with HAE show that as many as 50% of people living with this condition will experience a swelling attack restricting the airway in their lifetime. 

There are three types of HAE. In most cases, HAE occurs when there is a mutation in the SERPING1 gene, which is responsible for producing the C1-Inhibitor protein (C1-INH). This protein plays an important role in controlling swelling. 

Researchers are investigating the safety and effectiveness of introducing many copies of the functional SERPING1 gene into the body to understand what side effects it may cause as well as whether it can lead to the production of the C1-Inhibitor protein and impact the number and severity of HAE attacks.

What is the HAErmony-1 study? 

The HAErmony-1 Study is a clinical research study (also known as a clinical trial) investigating a possible therapy option for managing HAE. The HAErmony-1 study will test a one-time investigational study drug called BMN 331 to see what side effects it might cause and if it can restore the function of the faulty SERPING1 gene and thereby allow the liver to again produce more fully functional C1-INH to see if it can impact the frequency or severity of attacks. Investigational means that the study drug has not been approved by health authorities for public use and can only be used in clinical research studies. BMN 331 is given as a single intravenous (IV) infusion. 

Participating in this clinical research study will help scientists to explore this treatment— and what scientists learn from the HAErmony-1 study may eventually help other eligible people living with HAE in the future.

If you live with HAE and are interested in learning more about participating in this clinical research study, visit

The road to a rare disease diagnosis is paved with questions; so too is the road from diagnosis to participation in clinical research studies. Through clinical research studies, researchers are looking at the safety and effectiveness of gene therapies for rare diseases.

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