
News • Ornithine Transcarbamylase deficiency
OTC deficiency: First patient benefits from gene therapy trial
A patient at the Queen Elizabeth Hospital Birmingham (QEHB) was the first person in the world to take part in a pioneering gene therapy trial for Ornithine Transcarbamylase (OTC) deficiency, a rare disease that causes toxic levels of ammonia to build up in the blood. Simon Smith, 45, was diagnosed with OTC deficiency as a teenager. Although he defied medical expectations by living a full life in…