Summary
Gene therapy is an advanced treatment approach that modifies or replaces your genes to help treat certain genetic diseases, including sickle cell disease and other inherited conditions.
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What is gene therapy?
Gene therapy is a way to treat a disease by correcting the abnormal genetic problem that causes it. This one-time treatment involves fixing errors in our DNA: the instructions that tell our bodies how to work. By changing these genetic instructions, gene therapy can restore important functions in the body.
Gene therapy may be accomplished:
- Replacing faulty genes with healthy ones
- Adding new genes to help fight illness
- Turning off genes that cause disease
More recently, scientists have created gene therapy approaches using a novel technology called CRISPR to edit a patient's faulty genes. Casgevy became the first therapy approved for use in the United States that uses this approach.
What conditions does gene therapy treat?
We offer gene therapy at NewYork-Presbyterian to treat sickle cell disease in patients age 12 and older with a history of vaso-occlusive events and no matched donor for a bone marrow transplant. The treatments include the drugs exagamglogene autotemcel (Casgevy) and lovotibeglogene autotemcel (Lyfgenia).
Casgevy is also a gene therapy for people with beta-thalassemia who are dependent on blood transfusions.
Investigators at NewYork-Presbyterian are also evaluating gene therapy for:
- Cystic fibrosis
- Genetic hearing loss in children
- Amyotrophic lateral sclerosis (ALS, Lou Gehrig's disease)
- Parkinson's disease
Gene therapy care at NewYork-Presbyterian
We bring together advanced treatments, experienced specialists, and coordinated support to help patients navigate complex care with confidence.
How does gene therapy work?
Different gene therapies work in different ways. Casgevy, for example, is made from a patient's own blood stem cells that have been removed and modified.
In a lab, CRISPR is used to make a precise edit in a gene that controls the production of fetal hemoglobin, a type of hemoglobin we all produce until shortly after birth. People with sickle cell disease inherited a gene from both parents that has instructions for making abnormal hemoglobin. The abnormal hemoglobin causes red blood cells to sickle.
After giving Casgevy back to the patient, the cells take hold in the bone marrow and begin forming red blood cells that make fetal hemoglobin. When the red blood cells produce a certain level of fetal hemoglobin, the cells no longer become sickled or sticky.
What can you expect during gene therapy?
The evaluation
Our gene therapy experts will review your case and communicate with your referring physician to decide if this treatment is right for you. You will also meet with several members of our multidisciplinary teams, including nurses, advanced practice providers, social workers, and coordinators. If we decide that gene therapy is appropriate for you, you will have several tests to evaluate your health and make sure that this treatment is safe for you.
Stem cell collection
The first step is collecting stem cells so that they can be edited in the laboratory with CRISPR before they are returned to the patient.
Receiving chemotherapy
The patient receives intensive chemotherapy in the hospital to eliminate some stem cells and make space in the bone marrow for the new blood-forming cells. This part of the treatment requires a lengthy, weeks-long hospital stay while the patient's immune system recovers.
Receiving the gene therapy
The patient receives Casgevy through an infusion and starts making red blood cells that contain fetal hemoglobin. The patient stays in the hospital until their care team feels they are ready to go home.
Monitoring your health
Patients who suffered daily no longer experience pain crises or require hospitalizations. Unlike other treatments, patients who receive gene therapy for sickle cell disease do not need to come back for repeat treatments.
What are the side effects of gene therapy?
Gene therapy is a lengthy, intense process. Its side effects are similar to those observed during the chemotherapy portion of bone marrow transplantation. The chemotherapy can have side effects such as mouth sores, nausea, vomiting, diarrhea, hair loss, and long-term effects on fertility. Your doctor will discuss possible side effects with you.