The service to patients with Gaucher’s disease, (the most common lysosomal storage disorder) at the Royal Free Hospital was started by Professor A. V. Hoffbrand, when he was head of the Haematology department over 25 years ago. Treatment at that time was merely supportive. Enzyme replacement therapy (ERT) for the disorder became licensed for use in 1990 and a dedicated clinical service began on Crowley ward.
Because ERT is long-term or life-long treatment, patients are offered instruction in the skills required to perform their own infusional therapy at home. This service is supported by a team of nurses in the community provided by a national private health care company (Healthcare at Home). This has allowed patients to become independent and integrate the treatment into normal daily life.
In 1997 the Royal Free Hospital was designated a national specialist centre for Gaucher’s disease by the department of health via NSCAG (national specialist commissioning advisory group). Dr Atul Mehta consultant in haematology is the lead clinician for the service and works alongside a specialist registrar (clinical lecturer in haematology, Dr. Derralynn Hughes), a paediatric haematologist Dr. Agathe Pachnis and a team of clinical nurse specialists.
From 2003 substrate reduction therapy (SRT) became licensed in the UK for patients unsuitable for, or unwilling to receive ERT. We now have a growing number of patients receiving this treatment, which is an oral capsule.
Our centre contributes information to the Gaucher Registry – an international database on the natural history of the condition.
Following a successful clinical trial conducted by the clinical trials centre at the Royal Free, an established service is now in place for the diagnosis, assessment and treatment of Anderson-Fabry disease. AFD is a rare, inherited metabolic condition affecting numerous cell types and organs. Treatment using ERT is available for patients in the same way as for Gaucher’s disease – using a home-infusion nursing team.
Our centre also contributes to a European-wide database – FOS (the Fabry outcome survey). This is the most comprehensive tool for gathering data on the natural history of this rare condition.
Since April 2005 the Royal Free has been an NSCAG designated centre for the diagnosis and management of all lysosomal storage disorders for which there is a treatment.
Consequently with the licensing of Myozyme (ERT) for Pompe disease in 2007 – we now have a growing co-hort of patients with this rare glycogen storage disorder. Pompe – which is the deficiency of the lysosomal enzyme acid maltase, affects the muscles and can be very debilitating.
As an adult treatment centre we look after the late-onset form of the condition which is somewhat milder than the early-onset (affecting children).
Our patients receive their enzyme treatment at the hospital and eventually, in the home. Care is shared with King’s College Hospital in London where the patients are regularly assessed by neuro-muscular specialist Dr Fiona Norwood and her team.