Research Nurse Elaine Shields and Dr Karolina Stepien

Pioneering team in UK first for rare disease patient

Well done to everyone involved in another UK first in metabolic medicine, where a patient has received an investigational treatment for  the rare genetic disorder ornithine transcarbamylase deficiency (OTC deficiency). In this condition, the OTC gene contains incorrect instructions that lead to low-functioning or absent OTC enzyme – which means ammonia isn’t removed from the body, causing serious illness.

Our patient was the first in the UK to receive the treatment in which lipid nanoparticles are used to deliver mRNA with the correct instructions to enable the body to make functioning OTC enzyme and remove excess ammonia. They are being treated at the NIHR Manchester Clinical Research Facility (CRF) at Salford Royal Hospital.

The Metabolic Medicine Research Team and Principal Investigator Dr Karolina Stepien screened the patient in March and were able to go ahead with the first of six treatments in April. The ARCT810 treatment has been developed by Arcturus Therapeutics, a global late-stage clinical messenger RNA medicines and vaccines company based in California.

Last autumn, the team achieved another UK first and delivered NCA’s first gene therapy study when they treated a patient with Gaucher disease.

Dr Stepien said: “Patients with OTC deficiency must currently follow a very strict low-protein diet as well as have preventative treatment with nitrogen scavenging agents. We hope that the new mRNA therapy will improve patients’ quality of life as they will relax their diet. It will also significantly reduce the number of admissions with acute illness.

“We are proud to be part of international ground-breaking research. Treating the first UK patient has involved a good deal of hard work and planning from colleagues within NCA, who are offering hope of a better future to people with this devastating condition.”

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