New Treatment for X-Linked Chronic Granulomatous Disease Granted Orphan Drug Designation

Orchard Therapeutics is investigating their gene therapy, OTL-102, for the treatment of X-linked chronic granulomatous disease (X-CGD). This treatment has recently received the Orphan Drug designation from the FDA, which will provide Orchard with benefits, such as market exclusivity and monetary incentives. As X-CGD has a “critical unmet need,” Orchard and the medical world are very excited for the results of OTL-102’s trial.

About Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is a primary immunodeficiency disease. Those affected by this condition have a very weakened immune system, making them very susceptible to bacteria and fungi that would cause only mild illnesses in others.

People with this disease are typically healthy until they come into contact with a bacterial or fungal illness. The most common infections include pneumonia, lung infections, skin infections, lymph node infections, liver infections, gastrointestinal inflammation, and other infections. Masses called granulomas may form at the sites of infection.

A mutation in one of five genes causes a malfunction in the phagocytes, which are a form of white blood cells. When these cells do not function properly, the immune system is weakened and cannot protect the body. This may occur due to a problem in the CYBA, CYBB, NCF1, NCF2, and NCF4 genes. The CYBB is inherited in an X-linked recessive pattern, which is the form being studied with OTL-102. The other genes are inherited in autosomal recessive patterns.

A diagnosis usually comes in childhood, as doctors notice frequent infections. In milder forms of the disease, a diagnosis may not be given until adulthood. A clinical exam, evaluation of family and medical history, and finding of characteristic symptoms is usually enough for a diagnosis. It can be confirmed through genetic testing, neutrophil function testing, or prenatal testing.

Once a diagnosis is obtained, treatment consists of avoiding and quickly treating infections. Antibiotic therapy and interferon-gamma injections can help to boost the immune system. A possible cure is a stem cell transplant, but the success varies based on a number of factors.

About OTL-102

OTL-102 is an “ex vivo autologous hematopoietic stem cell gene therapy.” It has been heavily studied by a number of institutions, including the California Institute of Regenerative Medicine and the Gene Therapy Resource Program from the National Heart. The early data that supports this treatment is published in Nature Medicine.

Study of OTL-102

This therapy was studied in nine people, who were severely affected by X-CGD. The study was meant to evaluate the safety and efficacy of OTL-102. By the end of the study, six of the seven surviving participants exceeded the expectations. Two patients passed away during the study, but it was concluded that they passed away due to disease-related complications, not OTL-102.

There are plans to enroll more patients for further evaluation of safety and researchers also expect to improve the efficacy during the manufacturing process.

Medical professionals are hopeful that this therapy will continue to be safe and effective for those with CGD, as there is an unmet need for treatments.

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