Health :: New treatment for Pompe disease – Glycogen storage disease type 2

Patients with a potentially fatal disease are being offered the UK?s first treatment for the condition at the Royal Free. Pompe disease is a neuro-muscular disorder caused by an enzyme deficiency. The lysosomal storage disorders unit at the hospital recently began a programme using Myozyme, the first licensed enzyme replacement therapy for this condition.

Dr Atul Mehta, consultant haematologist and clinical lead for the service said: ?It?s a privilege to be one of only five centres in the UK to offer this new service. Pompe is an extremely rare inherited disease that can be very debilitating. Patients suffer from breathing and eating difficulties, fatigue and a general lack of muscle strength.

?For the first time, there is a treatment for this condition which will have clearly beneficial effects. We currently have three patients on treatment ? but the adult form of the disease is under-diagnosed and there must be many more patients who could potentially benefit.?

Alan Milligan, clinical nurse specialist in haematology, added: ?The medication is given as an intravenous infusion which is quite difficult to make so, at the moment, patients have come to the unit to be treated. We hope that eventually treatments can be given at home, as is the case for other diseases we manage at the unit such as Gaucher and Fabry.

?This is a huge leap forward which should make a big difference to the lives and well-being of patients with Pompe disease.?

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