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 disorder that affects the red blood cells, which are essential for carrying oxygen to all organs of the body. A lack of red blood cells, also known as anemia, is the primary manifestation of beta thalassemia. Because of this anemia, people living with beta thalassemia may experience fatigue and shortness of breath, and infants may develop failure to thrive, jaundice and feeding problems. Complications of beta thalassemia can also include an enlarged spleen, liver and/or heart; misshapen bones; and delayed puberty. Treatment for beta thalassemia is personalized and depends on the severity of disease that each person experiences. Many people have to get regular blood transfusions to deliver healthy donated blood to their body. This requires many hospital visits and can also lead to an unhealthy buildup of iron. Today, potential curative treatments for beta thalassemia are available, but only applicable to a fraction of people. 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 tests 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 is caused by 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 leads to issues with the production of hemoglobin, leading to anemia.

The Vertex Approach  

We’re investigating genetic therapies aimed at the underlying cause of transfusion-dependent beta thalassemia (TDT). The cause of TDT has been known for decades, yet many people still don't have a treatment to address the underlying cause of their 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 potential one-time treatment for transfusion-dependent beta thalassemia. CTX001™ is an investigational, autologous, ex vivo CRISPR/Cas9 gene-edited therapy which aims to edit a person’s hematopoietic stem cells to produce fetal hemoglobin (HbF; hemoglobin F) in red blood cells. HbF is a form of the oxygen-carrying hemoglobin that is naturally present at birth, which then switches to the adult form of hemoglobin. The aim of using the body’s own machinery to switch red blood cells back to producing HbF is to address symptoms associated with the disease. 

We also have a strategic research collaboration to discover and develop novel targeted conditioning regimens that may enhance the hematopoietic stem cell transplant process, including transplants conducted as part of treatment with ex vivo CRISPR/Cas9 gene-editing therapies such as CTX001. We are also investigating other conditioning regimens to potentially support expansion of stem cell transplant opportunities. 

We also have an internal research program exploring oral small molecule treatment options for people living with beta thalassemia.

Pipeline

Beta Thalassemia

CTX001
Phase 1/2

We are collaborating with CRISPR Therapeutics to investigate the use of a gene-editing technology, known as CRISPR/Cas9, to discover and develop a potential one-time treatment for transfusion-dependent beta thalassemia. CTX001™ is an investigational, autologous, ex vivo CRISPR/Cas9 gene-edited therapy which aims to edit a person’s hematopoietic stem cells to produce fetal hemoglobin (HbF; hemoglobin F) in red blood cells. HbF is a form of the oxygen-carrying hemoglobin that is naturally present at birth, which then switches to the adult form of hemoglobin. The aim of using the body’s own machinery to switch red blood cells back to producing HbF is to address symptoms associated with the disease.

SMALL MOLECULE
Preclinical

We’re investigating small molecule medicines aimed at the underlying cause of transfusion-dependent beta thalassemia (TDT).  

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