WTCRFs host global trial of Morquio disease therapy

The two Wellcome Trust Clinical Research Facilities at the Trust are playing a key role in the global Phase 3 trial of an enzyme therapy to treat Morquio disease, a life-limiting genetic condition which affects around 100 patients in the UK.

The condition is a form of mucopolysaccharide disease (MPS), in which patients have missing enzymes and so cannot process the materials used to build and replace tissues in the body.  Morquio patients have skeletal deformities, lung and airway problems and are only around a metre tall when fully grown.  Many patients die in their late teens or early twenties, although some do live on into their forties and beyond.

Manchester has been a UK centre of excellence for looking after MPS patients over the past 30 years, and was therefore chosen to participate in the worldwide clinical trial of the investigational product GALNS, an enzyme replacement therapy for Morquio disease being developed by a US company BioMarin Pharmaceutical Inc.

The trial team is led by Dr Simon Jones, Consultant in Paediatric Inherited Metabolic Disease, who is based in the genetics department at Saint Mary’s Hospital. 

“The GALNS therapy replaces the missing enzyme through a weekly intravenous infusion, and this six-month trial is looking at the impact of the therapy on stabilising Morquio disease and preventing its progression,” explained Dr Jones.

“Currently there is no licensed treatment for the disease; doctors can only provide supportive care and surgery to ease the condition.”

Manchester was one of only three sites in the world to host a Phase 1 trial of GALNS in 2009.  Five patients participated and are continuing to receive the treatment.  The current trial involves 176 patients at 31 sites in 17 countries worldwide, and Manchester recruited several of the first ten patients to join this trial.

Among the patients travelling to Manchester on a weekly basis for the trial are two children from Norway and a child from the Republic of Ireland.  BioMarin is working in partnership with the UK MPS Society to fund and arrange travel plus accommodation for all the trial participants.

“Having the Wellcome Trust adult and paediatric clinical research facilities on the hospital campus is a tremendous benefit for clinical trials,” added Dr Jones.  “With rare diseases like Morquio, both adults and children are likely to be involved and it’s unusual to have the specialist facilities to accommodate both types of patients on just one trial site.”

The worldwide trial results are expected early in 2013, and BioMarin is also carrying out a supplemental study of the GALNS treatment with patients under the age of five.