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Promising progress for CRISPR-based sickle-cell disease therapy

July 9, 2020

Gene therapy performed in a lab with a pipette

In a time when good news is desperately needed, researchers are reporting very promising trial results that could yield a robust treatment for inherited blood disorders like sickle cell anemia. The news involves an experimental therapy based on CRISPR, the revolutionary gene-editing technique, and builds on successes we blogged about in December.

Three people treated for sickle cell disease and another blood disease, beta thalassemia, have gone for months after the treatment without needing the blood transfusions or suffering the episodes that characterized their lives beforehand, researchers recently reported.

The therapy, called CTX001, is an investigational ex vivo CRISPR gene-edited therapy being evaluated for patients suffering from transfusion-dependent beta thalassemia or severe sickle-cell disease. For the therapy, a patient’s hematopoietic stem cells are engineered to produce high levels of fetal hemoglobin (HbF; hemoglobin F) in red blood cells. Fetal hemoglobin, which the body typically stops producing soon after birth, resists sickling and benefits beta thalassemia patients.

The procedure involves drawing blood from the patients, isolating hematopoietic (blood-producing) stem cells, and infusing the CRISPR’ed cells into the bloodstream.

Two patients with beta thalassemia are transfusion-independent at five and 15 months after the CTX001 infusion. The sickle-cell disease patient is free of vaso-occlusive crises at nine months after the infusion and hasn’t needed transfusions, according to Vertex, which is among several companies targeting the disease.

‘It’s been a joy’

“It’s hard to put into words the joy that I feel — being grateful for a change this big. It’s been amazing,” says the sickle cell disease patient, a 34-year-old mom. “Since my treatment I’ve been able to do everything for myself, everything for my kids. And so it’s been a joy not only for me but for the people around me that’s in my life.”

Sickle cell disease, the most common genetic disease in the world, affects 90,000 Americans. Approximately 250 million people worldwide carry the gene responsible for sickle cell disease and other hemoglobin diseases.

Sickle cell disease is named after the shape of the diseased red blood cell. Instead of being round like a healthy red blood cell, these are crescent shaped like the farm tool called a sickle. The cells get caught up in blood vessels, causing acute pain, infection, stroke and acute chest syndrome.

Beta thalassemia is an inherited blood disorder that causes a patient’s body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving the patient fatigued. Severe forms might require regular blood transfusions.

Clinical trials are ongoing and more results are expected later this year.

Hematopoietic stem and immune cells for research

This work is an exciting example of innovative biomedical research involving hematopoietic stem and immune cells, which are available from both healthy and diseased patients through the iSpecimen Marketplace. Researchers use these types of tissue and cell products to develop stem cell therapies, immunotherapies, vaccines, diagnostics, new treatments for infectious and autoimmune diseases, and in cell-based assays to advance drug discovery/preclinical development.

May their successes continue.

Learn about the iSpecimen Marketplace where you can browse millions of richly annotated, de-identified human tissue and biofluid biospecimens, in addition to hematopoietic and immune cell products and COVID-19 samples. You can join for free and creating a login is easy. Request a quote or custom collection today.