Breakthrough for baby with rare illness in world-first gene therapy trial

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21st March 2025 - The Independent

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A baby boy with a rare genetic disorder is making “incredible” progress after he became the first infant to receive a groundbreaking new gene therapy.

Fourteen-month-old Tomas was diagnosed with ornithine transcarbamylase (OTC) deficiency when he was a few weeks old - becoming just one of 15 each year diagnosed with the rare genetic disease.

An OTC deficiency is when ammonia, a waste product that is generated when the body breaks down proteins, builds up in a person’s blood.

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Ammonia is usually processed in the liver and removed through urine but patients with the condition have a genetic deficiency in the protein in the liver which is responsible for detoxifying ammonia, allowing ammonia to build up, which can be toxic. It can cause life-threatening complications including brain damage, coma or seizures, if left untreated.