Hernan Hernandez
Dr. Brian McCarthy
February 2017
What is Chronic Granulomatous Disease? Chronic Granulomatous Disease (CGD) is a primary immunological disorder of phagocytes ensuing from impaired killing of bacteria and fungi. CGD is characterised by severe repeated microorganism and fungous infections and dysregulated inflammatory response leading to granuloma formation and different inflammatory disorders like colitis. Infections usually involve the respiratory organ , lymph nodes, liver, bone , and skin ; granulomas generally involve the urinary system (bladder) and gastrointestinal tract (often the orifice at the start, and later the passage, jejunum, ileum, cecum, rectum, and perirectal area).
CGD is diagnosed by taking …show more content…
In gene therapy, a number of the blood-making cells are taken from the patient using a technique known as apheresis. The normal gene is placed into the cells using a type of viruses known as retroviruses. The cells are then ready to produce the normal protein. During this trial, the patient can receive a small dose of chemotherapy called busulfan, less than what's traditionally used in allogeneic BMT, and the new corrected cells can then be put back into the patient. Even with the most effective standard of care, a number of patients with CGD can still die from infection. For those patients who have an unresponsive or progressive infection and don't have a possible relative donor, their only hope is either a Matched Unrelated Donor (MUD) transplant, that has a high risk of causing death itself, or gene therapy. Hence, we would propose using gene therapy in these patients as this has less risk of causing death, however can still possibly provide a cure. Even if the corrected cells do not remain life long to rid the patients entirely of their disease, as long as they persist for even a couple of months, they might be able to at least clear this infection that the patients are being considered for enrollment in this protocol. Further, they might still be eligible to undergo a matched unrelated donor transplant in the event that gene therapy doesn't confer any
Dr. Brian McCarthy
February 2017
What is Chronic Granulomatous Disease? Chronic Granulomatous Disease (CGD) is a primary immunological disorder of phagocytes ensuing from impaired killing of bacteria and fungi. CGD is characterised by severe repeated microorganism and fungous infections and dysregulated inflammatory response leading to granuloma formation and different inflammatory disorders like colitis. Infections usually involve the respiratory organ , lymph nodes, liver, bone , and skin ; granulomas generally involve the urinary system (bladder) and gastrointestinal tract (often the orifice at the start, and later the passage, jejunum, ileum, cecum, rectum, and perirectal area).
CGD is diagnosed by taking …show more content…
In gene therapy, a number of the blood-making cells are taken from the patient using a technique known as apheresis. The normal gene is placed into the cells using a type of viruses known as retroviruses. The cells are then ready to produce the normal protein. During this trial, the patient can receive a small dose of chemotherapy called busulfan, less than what's traditionally used in allogeneic BMT, and the new corrected cells can then be put back into the patient. Even with the most effective standard of care, a number of patients with CGD can still die from infection. For those patients who have an unresponsive or progressive infection and don't have a possible relative donor, their only hope is either a Matched Unrelated Donor (MUD) transplant, that has a high risk of causing death itself, or gene therapy. Hence, we would propose using gene therapy in these patients as this has less risk of causing death, however can still possibly provide a cure. Even if the corrected cells do not remain life long to rid the patients entirely of their disease, as long as they persist for even a couple of months, they might be able to at least clear this infection that the patients are being considered for enrollment in this protocol. Further, they might still be eligible to undergo a matched unrelated donor transplant in the event that gene therapy doesn't confer any