Proof-of-Concept Trial for X-Linked Chronic Granulomatous Disease Treatment Shows Promise

According to a story from Markets Insider, the biopharmaceutical company Orchard Therapeutics recently announced the presentation of proof-of-concept data in regards to their investigational drug candidate OTL-102. This experimental therapy is in development as a treatment for X-linked chronic granulomatous disease (X-CGD). OTL-102 is a hematopoietic stem cell type gene therapy. Orchard is committed to the development of gene therapies for life-threatening rare diseases.

About Chronic Granulomatous Disease

Chronic granulomatous disease (CGD), which is also called Bridges-Good syndrome, describes a diverse group of hereditary genetic diseases. They are characterized by the appearance of granulomata (small clusters of macrophages, a type of immune system cell) in many organs throughout the body. This is the result of immune cells not being able to form the reactive compounds used to destroy pathogens. It is caused by mutations affecting the NOX2 or CYBB gene, which is found on the X chromosome. Therefore, most cases of chronic granulomatous disease are X-linked. Infections are the most common symptom and appear due to the compromised state of the immune system. Infections may include skin infections, pneumonia, bacterial or fungal blood infections, septic arthritis, and osteomyelitis. The agents that cause infection are almost never dangerous in healthy people. Treatment includes antibiotics, interferon, and stem cell transplant. A stem cell transplant can cure the disease but comes with serious risks. To learn more about chronic granulomatous disease, click here.

Proof-of-Concept Trial Results

This data was presented for the first time at the American Society of Hemotology Annual Meeting and Exposition which occurred in December of last year. The data from the early testing was encouraging. Six out of seven patients saw considerable benefit from treatment with OTL-102 after a year. Patients saw an end to their chronic inflammation and infections and had healthy levels of neutrophils (white blood cells) that were functioning normally. The patients who were evaluated were between the ages of two and 27. It should be noted that two other patients died three months into the study. The cause was determined to be comorbidity-related complications that were the result of severe, advanced disease and were not linked to treatment with OTL-102.

These results suggest that OTL-102 has the potential to be a truly transformative gene therapy for patients with X-linked chronic granulomatous disease. Orchard hopes to proceed with clinical trials later this year.


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