Research and Pipeline

Vertex is focused on discovering, developing and commercializing innovative medicines so people with serious diseases can lead better lives. Our scientists don’t see the impossible as an obstacle; they see it as a good place to start.

These studies are investigating treatments or outcomes that have not all received approval from a health authority. The information presented is not intended to convey conclusions of safety or efficacy. There is no guarantee that the outcome of these studies will result in approval by a health authority. 

About Beta Thalassemia

What is beta thalassemia? Beta thalassemia is an inherited blood disease that affects the red blood cells, which carry oxygen to all organs of the body. Beta thalassemia causes anemia, which is a lack of red blood cells. Due to anemia, people living with beta thalassemia may experience fatigue and shortness of breath, as well as failure to thrive, jaundice and feeding problems in infants. Additionally, complications of beta thalassemia can lead to an enlarged spleen, liver and/or heart, misshapen bones and delayed puberty. Treatment for beta thalassemia varies depending on each person’s disease severity. Many people undergo regular blood transfusions, as frequently as every two to four weeks, to deliver healthy donated blood to their body. This requires many long hospital visits and can eventually cause an unhealthy buildup of iron. Today, the only potential cure for beta thalassemia is a stem cell transplant from a matched donor and it is only available to a small fraction of people with beta thalassemia. Due to symptoms and disease severity, beta thalassemia requires a lifetime of treatment and can result in a reduced life expectancy.   

How is beta thalassemia diagnosed? Beta thalassemia is diagnosed based on characteristic symptoms and a set of tests, including blood samples and genetic testing. People with the disease are often diagnosed before age 2, typically around 3-6 months.  

What is the underlying cause of disease? Beta thalassemia occurs due to a mutation in the beta-globin (HBB) gene. The HBB gene encodes for a key component of hemoglobin, the oxygen-carrying molecule in red blood cells. This mutation results in low or no beta-globin production, which leads to anemia. 

The Vertex Approach  

We are investigating the use of genetic therapies aimed at the underlying cause of transfusion-dependent beta thalassemia. The cause of transfusion-dependent beta thalassemia has been known for decades, but no one has developed a therapeutic approach that gets at the underlying cause of disease. With the discovery of tools like CRISPR gene editing, we now potentially have an opportunity to address diseases at their root cause.  

We are collaborating with CRISPR Therapeutics to investigate the use of gene-editing technology, known as CRISPR-Cas9, to discover and develop a new one-time treatment for transfusion-dependent beta thalassemia. CTX001 is an investigational ex-vivo CRISPR gene-edited therapy which aims to edit a person’s hematopoietic stem cells to produce fetal hemoglobin (HbF; hemoglobin F) in red blood cells. The aim of using the body’s own machinery to switch red blood cells back to fetal hemoglobin production is a significant reduction or elimination of symptoms associated with the disease.

Pipeline

Beta Thalassemia

CTX001
Phase 1/2

We are investigating the use of genetic therapies aimed at the underlying cause of transfusion-dependent beta thalassemia. The cause of transfusion-dependent beta thalassemia has been known for decades, but no one has developed a therapeutic approach that gets at the underlying cause of disease. With the discovery of tools like CRISPR gene editing, we now potentially have an opportunity to address diseases at their root cause.

We are collaborating with CRISPR Therapeutics to investigate the use of gene-editing technology, known as CRISPR-Cas9, to discover and develop a new one-time treatment for transfusion-dependent beta thalassemia. CTX001 is an investigational ex-vivo CRISPR gene-edited therapy, which aims to edit a person’s hematopoietic stem cells to produce fetal hemoglobin (HbF; hemoglobin F) in red blood cells. The aim of using the body's own machinery to switch red blood cells back to fetal hemoglobin production is a significant reduction or elimination of symptoms associated with the disease.

 

LEARN MORE ABOUT BETA THALASSEMIA

Our Studies  

In 2018, Vertex and CRISPR Therapeutics initiated a Phase 1/2 study evaluating CTX001 in subjects with transfusion-dependent beta thalassemia. To learn more, visit clinicaltrials.gov.

In 2019, Vertex and CRISPR Therapeutics initiated a long-term follow-up study evaluating subjects who received CTX001. To learn more, visit clinicaltrials.gov

For more information, contact medical info at +1 617-341-6777.

News  

For more information from Vertex on beta thalassemia, please visit the Newsroom