Oscar the Cricketer - Finding hope in gene replacement therapy from an incredibly rare condition

Oscar was a very typical 11-year-old with hopes, dreams and an unquenchable passion for cricket, but around 11years old, we noticed a decline and his running was laboured, affecting his ability to play cricket. He was referred to a pediatric neurologist, and after extensive testing, a genetic test revealed that Oscar had a rare condition called Charcot-Marie-Tooth (CMT), specifically type 4J. When Oscar was diagnosed, only 23 other people in the world were known to have CMT4J.

CMT4J is a peripheral neuropathy where the nerves in Oscar's feet, legs, arms and hands are dying away, causing progressive muscle weakness. CMT4J is known to cause progressive nerve loss, with most patients requiring some dependence on a wheelchair by their 20s. Weakness can spread to the arms and hands, making everyday tasks challenging. Eventually, the respiratory muscles can also weaken, leading to respiratory failure and ventilation.

Because CMT4J is such a rare disease, there is very little funding for research or developing treatments. To treat and monitor a patient in a gene therapy clinical trial can cost upwards of $500,000NZD. A clinical trial, treating the first CMT4J patient ever, is planned for 2026.

We’re asking you to please join us in raising the funds to make this clinical trial a reality for Oscar!

Oscar wants to keep running and walking, using his arms and hands to study, write, and work. He wants to keep breathing. Help us get to that clinical trial for Oscars and others with CMT4J.