Granulomatous Disease, Chronic, X-linked, Variant Clinical Trial
Official title:
Phase I/II Gene Therapy Protocol for X-Linked Chronic Granulomatous Disease
Chronic Granulomatous Disease (CGD) is a rare inherited disorder in which patients suffer
from severe infection and inflammation. The first indication of disease usually appears in
early childhood. The basic defect found to be lie in specialised white blood cells called
phagocytic cells, which are responsible for engulfing and destroying germs. In CGD, there is
a defect in an enzyme (known as NADPH-oxidase) that is responsible for generating bleach
like substances that are important for killing some important germs. In the form of the
disease known as X-CGD (which accounts for two thirds of patients), there are defined
mistakes in a gene called gp91-phox, which is a key part of the NADPH-oxidase.
In many cases, patients can be protected from infection by constant intake of antibiotics.
However, in others potential life-threatening infections break through. In some cases
patients also develop serious inflammation requiring high doses of drugs such as steroids.
CGD can be cured by bone marrow transplant, but the best results are available when there is
matched donor available. Transplant from unmatched donor have a much worse outcome.
Gene therapy of CGD can be performed by introducing a normal copy of human gp91-phox gene
into the blood forming stem cells of patients' bone marrow by using a gene carrier (in this
study called lentiviral vector). After treatment of the bone marrow cells in a specialised
laboratory are given back to the patient and will grow into functional phagocytic cells.
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Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment