Royal Manchester Children’s Hospital patient first-in-the-world to take part in pioneering trial to help patients with rare genetic condition

Last week, a patient at the NIHR / Wellcome Trust Manchester Clinical Research Facility, at the Royal Manchester Children’s Hospital, became the first child in the world to participate in a new trial which could alter the lives of those with Niemann-Pick Disease type B (NPD), a rare inherited metabolic disorder.

NPD is one of a group of lysosomal storage diseases that affect metabolism, caused by genetic mutations, in which harmful quantities of a fatty substance called sphingomyelin build up in the liver, spleen and lungs. The condition causes painful and swollen abdomen, which affects lung capacity and ability to breathe.

There is currently no effective treatment and people with the condition typically die in early adulthood.

The NIHR / Wellcome Trust Manchester Clinical Research Facility at the Royal Manchester Children’s Hospital is the first specialist facility in the North West and one of only a small handful across the UK. It is the only site in the UK, and less than 10 in the world, to be delivering the study.

The study is the first trial to test the safety and effectiveness of the new treatment in children, building on data generated through early adult studies, in which the Clinical Research Facility has also played a part.

The study is being led by Dr Simon Jones, Consultant in Paediatric Inherited Metabolic Disease at Saint Mary’s Hospital, Manchester.  Dr Jones, who is also Honorary Senior Lecturer at The University of Manchester, explains: “If successful, this will be the first treatment to be developed to specifically treat the needs of children with NPD.  We are very excited to be involved in the study and the benefits that it could bring for patients with NPD across the world.”

The Manchester Clinical Research Facility provides dedicated 24-hour research space/beds, and dedicated and highly trained research nurses to cover overnight stays as well as the 1:1 patient care required by the study.

The study is sponsored by Genzyme, a Sanofi company, and supported by the NIHR Clinical Research Network.