What’s new in PKU?

Dr Hugh Lemonde, Consultant Paediatrician Evelina London

At NSPKU 2019, Dr Hugh Lemonde, Consultant Paediatrician Evelina London, presented on ‘What’s new in PKU?’, specifically delving into the stages of clinical trials and pre-clinical trials. Here’s what we learned…

Phase 4 Trials

Pegvaliase

• Enzyme replacement Therapy
• Improves control in adults with sub-optimal control (PHE >600umol/l)
• Daily injections, not suitable for children
• Side effects can be a problem
• Not currently commissioned by NHS

Kuvan

• Helper to boost PKU enzyme (PAH)
• Tablet easy to use
• ↑ exchanges but rarely replaces diet
• Only works 20-40% patients
• Not commissioned by NHS Helper

Pre-clinical Trials

• Probiotics to sit in gut and stop phe being absorbed
• Enzyme infusion via red blood cells directly into blood stream
• Liver cell transplant – purify liver cells or Stem cell transplant from human placenta, stem cell is a cell capable of becoming another cell type in the body, inject into blood stream and they can go to where they are needed
• Gene therapy to create new PKU gene to enable liver cells to make new PKU enzyme normally. No trials for PKU yet, at least 10 years away & costs £1,000,000 per patient