A new cure to help boys with a rare disease | Action Medical Research

Touching Lives - April 2014

A new cure to help boys with a rare disease

Funding from Action is helping an expert team at London’s Institute of Child Health to develop a potential new treatment for a devastating rare condition that affects boys.

X-linked lymphoproliferative disease (XLP) is an inherited condition, caused by a faulty gene. It affects the immune system and boys typically become ill during childhood or early adolescence. Without a successful bone marrow transplant, the disease is usually fatal.

Symptoms vary but sufferers struggle to fight off infections, meaning common viral illnesses such as glandular fever can become life threatening. Some boys also develop a cancer called lymphoma.

Led by Professor Bobby Gaspar, a pioneer in gene therapy and former Action Research Training Fellow, the research team plans to replace the faulty gene that causes XLP with a healthy copy. They already have evidence that this approach could prove effective and are now developing a way to make sure the replacement gene works when and where it should. By the end of the project they hope to be ready to start testing the treatment in patients.

Professor Gaspar says: “If our new treatment is successful, then boys with XLP won’t get infections any more, they won’t get lymphoma, they will be able to live normal lives. We are not trying to make these children a little bit better. We are trying to cure them.”

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