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 Sickle Cell Disease

What is sickle cell disease? Sickle cell disease (SCD) is an inherited blood disorder that affects the red blood cells, which are essential for carrying oxygen to all organs of the body. SCD causes severe pain, organ damage and shortened life span due to misshapen or “sickled” blood cells. People with SCD experience several symptoms in addition to pain crises, including strokes, anemia, jaundice and symptoms of heart failure. People with SCD often have spleen damage, which puts them at risk for bacterial infections. Most often, treatment is focused on relieving pain and minimizing organ damage, requiring medication and sometimes monthly blood transfusions and frequent hospital visits. The only cure for SCD today is a stem cell transplant from a matched donor, but this option is only available to a small fraction of people living with SCD.

How is SCD diagnosed? In the United States and Europe, most newborns are screened for SCD at birth, while symptoms usually take about 6 months to present.

What is the underlying cause of disease? SCD 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 causes the production of abnormal hemoglobin, called sickle hemoglobin (HbS). Because of this abnormal hemoglobin, red blood cells become rigid and block small blood vessels, resulting in a lack of oxygen delivered to the tissues. This can cause problems in every organ in the body. 

The Vertex Approach   

We’re investigating genetic therapies aimed at the underlying cause of SCD. The cause of SCD has been known since Linus Pauling described the “first molecular disease” in 1949, yet many people still don't have a treatment to address the underlying cause of their disease.

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 SCD. 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 fetal hemoglobin 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 SCD.

Pipeline

Sickle Cell Disease (SCD)

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 SCD. 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 fetal hemoglobin is to address symptoms associated with the disease.  

SMALL MOLECULE
Preclinical

We’re investigating small molecule medicines aimed at the underlying cause of SCD.  

Our Studies  

In 2018, Vertex and CRISPR Therapeutics initiated a Phase 1/2 study evaluating CTX001 in subjects with severe sickle cell disease. 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 sickle cell disease, please visit the Newsroom