Gene and Cellular Medicine Program

ZOLGENSMA

Spinal Muscular Atrophy (SMA) is a genetic disease that affects the spinal cord and nerves, resulting in muscle wasting and weakness. Untreated, it is a neurodegenerative, progressive disease, which can be fatal in its more severe forms. Children with the most common forms, type 1 and type 2 SMA, either never achieve sitting or can sit unassisted but will not be able to walk without genetically targeted treatment.  

SMA is caused by mutations in a gene called survival motor neuron 1 (SMN1). In May 2019, the U.S. Food and Drug Administration (FDA) approved Zolgensma for the treatment of children under age 2 years with all forms and types of SMA. Zolgensma targets the genetic cause of SMA by replacing the missing SMN1 gene. The SMN1 gene is critical to motor neuron cell survival. It is made up of a new SMN gene that is placed inside a viral vector called adeno-associated virus 9 (AAV9). This vector travels through the body to deliver the new gene. Once the new gene has been delivered, the motor neuron cells will now be able to produce SMN protein.  

Lurie Children’s also offers nusinersen (brand name Spinraza) and risdiplam (brand name Evrysdi) for the treatment of SMA in children. Spinraza and Evrysdi are not gene therapy. They are medications that are used to increase production of the SMN protein, increasing the amount of functional protein produced from the SMN2 gene. 

SMA is treated through our Division of Neurology in collaboration with the Lurie Children's Mazza Foundation Neuromuscular Program.

Resources

• CureSMA
• Gene & Cell Therapy 101

ELEVIDYS

Elevidys is a one-time gene therapy approved by the FDA in 2023. It is the first approved treatment for boys 4 years and older with a confirmed diagnosis of Duchenne Muscular Dystrophy (DMD). DMD is a disease that causes the muscles in a patient’s body to weaken over time.  

DMD is caused by a problem within the gene dystrophin, which is very important for keeping muscles strong. Elevidys works by giving the body a shorter, working version of that gene, called micro-dystrophin. Micro-dystrophin will help improve muscle health and slow down any further muscle damage. 

DMD is treated through our Division of Neurology in collaboration with the Lurie Children's Mazza Foundation Neuromuscular Program.

Resources

• Gene & Cell Therapy 101

LUXTURNA

Retinal dystrophies are a group of eye disorders characterized by the degradation of different parts of the retina.  
In 2017, the FDA approved, Luxturna. Luxturna is a one-time gene therapy treatment option for children and adults with retinal disease due to mutations in the RPE65 gene. 

Luxturna works by delivering a working copy of the RPE65 gene to the retina (the light-sensitive tissue at the back of the eye). This healthy copy helps restore the visual cycle (a series of chemical reactions in the retina in response to light and the first step in a person’s ability to see).  

Luxturna is offered through Lurie Children’s Division of Pediatric Eye Surgery & Ophthalmology.

Resources

• Gene & Cell Therapy 101
• Inherited Retinal Disorders

KYMRIAH

Kymriah is a type of treatment called CAR-T cell therapy. It was approved by the FDA in 2017 to treat children and teens with a type of blood cancer called B-cell acute lymphoblastic leukemia (B-ALL). This treatment is for patients whose cancer did not respond to chemotherapy or came back more than once. 

For this treatment, a patient’s immune cells (called T cells) are taken from a patient’s blood. T cells normally help protect the body by fighting off infections and other diseases. The patient’s cells are genetically modified to help them recognize and attack cancer cells. The genetically modified T cells are trained to look for a protein called C19, which is found on the surface of cancer cells. The new cells are infused back into the patient. These new T cells are now able to find the cancer cells and destroy them. Because cancer cells can sometimes look like normal cells, the body’s original T cells usually don’t attack them. With Kymriah, however, the new T cells know exactly what they are looking for.  

B-acute lymphoblastic leukemia is treated in our Center for Cancer and Blood Disorders in collaboration with the Lurie’s Stem Cell Transplantation and Cellular Therapy Program.

Resources 

• Gene & Cell Therapy 101

ZYNTEGLO

Beta Thalassemia is an inherited blood disorder that affects the production of normal hemoglobin, a protein in red blood cells that carries oxygen to tissues throughout the body. It is caused by mutations in a gene called beta-globin. The most severe form of this disease requires lifelong blood transfusions every two to five weeks (thus these patients are “transfusion-dependent”). Patients must be constantly monitored for complications caused by the disease as well as the transfusions, which cause iron to accumulate in the liver, spleen, heart and other organs. 

In August 2022, the U.S. Food and Drug Administration (FDA) approved Zynteglo, the first potentially curative gene therapy for individuals with transfusion-dependent beta thalassemia. The FDA approval was based on clinical trial data from multiple study sites, including Lurie. This unique therapy is made specifically for each child, by adding functional copies of the beta-globin gene to their own blood stem cells. 

Beta Thalassemia is treated in our Center for Cancer and Blood Disorders in collaboration with the Lurie Children’s Stem Cell Transplantation and Cellular Therapy Program.

Resources

• Gene & Cell Therapy 101
• Blood Disorders
• Gene Therapy for Blood Disorders (video)
• Gene Therapy Approaches (video)
• The Science Behind Gene Therapy (video)
• Understanding Gene Therapy Approaches
• Gene Therapy For Blood Disorders
• Cooley’s Anemia Foundation

CASGEVY

Casgevy is a one-time gene therapy approved by the FDA to treat two serious blood conditions: 

• In December 2023, it was approved for people 12 years and older with sickle cell disease who have repeated pain crises (called vaso-occlusive crises or VOCs).
• In January 2024, it was also approved for people 12 and older with transfusion-dependent beta thalassemia, a condition where the body can’t make enough healthy red blood cells and needs frequent transfusions. 

Casgevy uses a powerful gene-editing tool called CRISPR/Cas9 to modify a patient’s own blood forming stem cells. The treated cells then begin making new, healthy red blood cells. Casgevy works by enabling people to make a fetal form of hemoglobin that normally stops being made after birth. It does this by suppressing a gene that shuts off fetal hemoglobin production. This allows people to make healthy, functioning red blood cells, which has benefits patients with both sickle cell disease and beta thalassemia: 

• In sickle cell disease, fetal hemoglobin prevents red blood cells from becoming sickle-shaped, which helps reduce or even eliminate pain crises and improves anemia. 
• In beta thalassemia, fetal hemoglobin raises overall hemoglobin levels, which helps carry more oxygen in the body and reduces or removes the need for blood transfusions. 

Sickle Cell Disease is treated in our Center for Cancer and Blood Disorders in collaboration with the Lurie Children's Stem Cell Transplantation and Cellular Therapy Program.

Resources 

• Gene & Cell Therapy 101
• Blood Disorders
• Gene Therapy for Blood Disorders (video)
• Gene Therapy Approaches (video)
• The Science Behind Gene Therapy (video)
• Understanding Gene Therapy Approaches
• Sickle Cell Disease Association of America Inc.
• Cooley’s Anemia Foundation

LYFGENIA

Sickle Cell Disease is an inherited blood condition. It happens because of a problem in a gene called beta globin, which helps make hemoglobin. Hemoglobin is the part of red blood cells that carries oxygen throughout the body. In people with sickle cell disease, the hemoglobin doesn’t work properly, causing red blood cells to become stiff and shaped like crescents or “sickles.” The sickled cells sometimes get stuck in blood vessels, blocking blood flow. This can cause serious pain episodes, known as pain crises, and over time can lead to organ damage and a shorter life. 

In December 2023, the FDA approved a new treatment called Lyfgenia for people 12 and older who have sickle cell disease and a history of pain crises. Lyfgenia is a one-time gene therapy. It uses a harmless virus to deliver a healthy copy of the beta globin gene to the body. This helps the body make normal red blood cells and reduces or even stops pain crises. 

LYFGENIA was tested in a two-year multicenter clinical trial in patients aged 12 to 50 years who had sickle cell disease and history of pain crises. 28 of 32 patients were evaluated 6 to 18 months after their LYFGENIA treatment were completely free of pain crises. Three years after treatment, the majority of patients had meaningful improvements in their pain, sleep, and fatigue.

Sickle Cell Disease is treated in our Center for Cancer and Blood Disorders in collaboration with the Lurie Children’s Stem Cell Transplantation and Cellular Therapy Program.

Resources

• Gene & Cell Therapy 101
• Blood Disorders
• Gene Therapy for Blood Disorders (video)
• Gene Therapy Approaches (video)
• The Science Behind Gene Therapy (video)
• Understanding Gene Therapy Approaches
• Sickle Cell Disease Association of America Inc.

CASGEVY

Casgevy is a one-time gene therapy approved by the FDA to treat two serious blood conditions: 

• In December 2023, it was approved for people 12 years and older with sickle cell disease who have repeated pain crises (called vaso-occlusive crises or VOCs).
• In January 2024, it was also approved for people 12 and older with transfusion-dependent beta thalassemia, a condition where the body can’t make enough healthy red blood cells and needs frequent transfusions. 

Casgevy uses a powerful gene-editing tool called CRISPR/Cas9 to modify a patient’s own blood forming stem cells. The treated cells then begin making new, healthy red blood cells. Casgevy works by enabling people to make a fetal form of hemoglobin that normally stops being made after birth. It does this by suppressing a gene that shuts off fetal hemoglobin production. This allows people to make healthy, functioning red blood cells, which has benefits patients with both sickle cell disease and beta thalassemia: 

• In sickle cell disease, fetal hemoglobin prevents red blood cells from becoming sickle-shaped, which helps reduce or even eliminate pain crises and improves anemia. 
• In beta thalassemia, fetal hemoglobin raises overall hemoglobin levels, which helps carry more oxygen in the body and reduces or removes the need for blood transfusions. 

Sickle Cell Disease is treated in our Center for Cancer and Blood Disorders in collaboration with the Lurie Children's Stem Cell Transplantation and Cellular Therapy Program.

Resources 

• Gene & Cell Therapy 101
• Blood Disorders
• Gene Therapy for Blood Disorders (video)
• Gene Therapy Approaches (video)
• The Science Behind Gene Therapy (video)
• Understanding Gene Therapy Approaches
• Sickle Cell Disease Association of America Inc.
• Cooley’s Anemia Foundation

ZEVASKYN

Epidermolysis bullosa (EB) is a rare genetic disease that causes painful skin blistering and chronic skin wounds. EB can range from mild to severe. Several types of EB have been identified. The type is determined by the specific gene variant that causes the disease. The different types of EB affect specific layers of skin tissue, but in general EB affects the skin’s structure and strength, and connectivity of the skin’s layers.   

The common symptom of all people with EB is that they have extremely fragile skin. The blisters can form in response to minor trauma, even to rubbing the skin, and can advance to become open, bleeding sores, prone to infection and in some cases scarring. Some children also develop blisters and sores inside the body, such as in the mouth or the lining of the esophagus (food pipe). It can also affect other internal organs. 

In most cases, epidermolysis bullosa is a condition inherited by one or both parents. A family history of epidermolysis bullosa – a parent, grandparent, aunt or uncle with the disease – increases the likelihood that your child will have it.

On April 29, 2025, the U.S. Food and Drug Administration (FDA) approved ZEVASKYN^TM to treat recessive dystrophic epidermolysis bullosa (RDEB) in pediatric patients. Lurie Children’s plans to be one of the five sites in the U.S. to offer this groundbreaking treatment.

Epidermolysis Bullosa is treated through Lurie Children’s Pediatric Dermatology. 

Resources 

• Gene & Cell Therapy 101
• Support Epidermolysis Bullosa Patients