Gene therapy is a treatment that replaces defective genes with healthy ones, adds new genes to help the body fight or treat disease, or deactivates disease-causing genes. Gene therapy works by altering the genetic code to recover the functions of proteins that are critical to how the body works. It can also be used to train the body’s immune system to recognize and attack cancer cells.

Gene therapy is a one-time treatment that can help people living with challenging diseases.

Conditions We Treat

Sickle cell disease: An inherited blood disorder characterized by an abnormal type of hemoglobin, a protein inside red blood cells, which carry oxygen.

Beta thalassemia major: An inherited blood disorder that affects the production of the beta globin protein, a type of protein in red blood cells, which carry oxygen.

Treatment Process

The treatment process our gene therapy team uses is known as gene addition. With gene addition, we can treat diseases at the genetic level by adding genetic material to a patient’s cells to compensate for a missing or faulty gene. A functional gene is introduced into cells ex vivo—the cells are modified outside the body—and then the modified cells are infused back into the patient.

A number of steps are involved in the treatment process:

1. The patient’s stem cells are removed from the bloodstream via a catheter placed into a vein.
2. The desired genetic material is inserted into the stem cells. A vector—a vehicle designed to deliver therapeutic genetic material directly into a cell—is used in the manufacturing process.
3. The patient is admitted to the hospital and receives chemotherapy to eliminate abnormal cells and make space for the new stem cells.
4. The stem cells with the newly inserted genetic material are returned to the patient’s bloodstream via an intravenous catheter.
5. The new cells go to the bone marrow and make healthy blood cells.

Gene Therapy Products We Use

• Lyfgenia™ (lovotibeglogene autotemcel) for Sickle Cell Disease
  
  Lyfgenia is a gene addition therapy that adds functional copies of the beta-globin gene to the patient’s own blood stem cells. This leads to production of anti-sickling hemoglobin that may decrease or stop vaso-occlusive events.
  
  The safety and effectiveness of Lyfgenia are based on the analysis of data from a 24-month multicenter study in patients with sickle cell disease and a history of vaso-occlusive events between the ages of 12 and 50 years.
  
  Eighty-eight percent of patients enrolled in the study experienced complete resolution of vaso-occlusive events between 6 and 18 months after infusion with Lyfgenia.
  
  Side effects included mouth sores and low levels of platelets, white blood cells, and red blood cells—all consistent with chemotherapy and underlying disease. Patients treated with Lyfgenia receive lifelong monitoring for blood cancer, which has developed in some patients.

• Zynteglo™ (betibeglogene autotemcel) for Beta Thalassemia Major
  
  Zynteglo is a gene addition therapy that adds functional copies of the beta-globin gene to the patient’s own blood stem cells. This leads to production of sufficient hemoglobin so the patient does not need to receive regular red blood cell transfusions.
  
  The safety and effectiveness of Zynteglo are based on data from Phase 3 studies—HGB-207 (Northstar-2) and HGB-212 (Northstar-3)—and the long-term follow-up study LTF-303.
  
  The 24-month phase 3 studies of Zynteglo included patients aged 4 to 34 years with both non-β0/β0 and β0/β0 genotypes. The longest follow up was four years. Eighty-nine percent of patients across ages and genotypes achieved transfusion independence—they no longer needed red blood cell transfusions for at least 12 months while maintaining an average total hemoglobin of at least nine g/dL.
  
  Adverse reactions included mucositis, neutropenia (low count of neutrophils, a type of white blood cell), nausea, abdominal pain, musculoskeletal pain, headaches, diarrhea, constipation, and decreased appetite. Some patients experienced complications related to low counts of platelets, white blood cells, and red blood cells. 

Why Mount Sinai?

Our expertise and comprehensive infrastructure enable us to provide gene therapy safely for optimal patient outcomes. As a full-service medical facility, The Mount Sinai Hospital has experts in all medical specialties who collaborate to ensure that all aspects of a patient’s health needs are addressed.

While gene therapy holds promise for treating challenging diseases, there are risks involved. Mount Sinai has an advanced supportive care service that can address adverse reactions.

Our Care Team

Our dedicated team includes physicians, nurses, pharmacists, and other specialists who have expertise in gene therapy.

• Uroosa Ibrahim, MBBS, Medical Lead for Gene Therapy, Associate Director of the Cellular Therapy Program
• Alaysia Williams, MHA, Administrative Director
• Jason Batalha, MSN, NP-BC, Clinical Program Manager
• Saskia Morrison, MPH, Program Manager
• Amelyn Rodriguez, RN, Gene Therapy Coordinator
• Yu Ming Ng, Administrative Coordinator
• Bone Marrow and Stem Cell Experts

Contact Us

Patients are advised to talk with their physician about whether gene therapy might be a treatment option.

Referring physicians are invited to contact us at 212-241-6021 for more information and to discuss possible patient referrals.