The Changes in NHS Funding of Gauchers Disease

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Geoff H Apperley, a Commissioning Manager at Addenbrooke's Hospital, explains the changes in funding for the treatment of Gauchers disease and other lysosomal storage diseases since April 2005.

The centralised funding of treatment for lysosomal storage diseases such as Gauchers disease, which was introduced in April 2005 by the Dept of Health's National Specialist Commissioning Advisory Group (NSCAG), has dramatically reduced the time between confirmed disease diagnosis and delivery of treatment. Now what used to take many months, in most cases, has been reduced to a single notification to NSCAG of the start of therapy. In my opinion, the shift in funding has been a success and nothing reflects this more than the benefits this has had on improving access for patients to effective treatments.

I have been a NHS Commissioning Manager at Addenbrooke's Hospital since 2000 and am responsible for arranging the purchase of medication and other services between the NHS and the independent sector such as pharmaceutical companies. I have been particularly involved in obtaining funding for the treatment of lysosomal storage diseases since 2001.


Before 2005 NSCAG designated and funded the services of four Gauchers Centres to provide diagnosis and management of Gaucher disease alone. Treatment, such as enzyme replacement therapy, was prescribed through the patient's local GP, hospital consultant or clinician at a designated Centre. Payment for their treatment came from their own local Primary Care Trusts or from a Consortia (group) of Primary Care Trusts. This meant that funding decisions on high cost treatments were subject to the 'lottery' of separate local decisions. If at first funding was not granted, the decision was challenged by the patient's doctor and family with the support of the relevant patient advocacy group. Much time and many letters were expended in seeking funding to allow treatment to start.

Shift in Funding Responsibility

On 1 April 2005 the 'treatment landscape' changed with a radical shift in the funding responsibility in England to NSCAG which began to fund both services and treatment on a national scale through six designated centres (listed below). In addition, the coverage of these centres was extended to all lysosomal storage disorders and currently provides funding for Gauchers, Fabry and MPS1 treatments with therapies for others such as Niemann-Pick, Sandhoff, Hunter's and Pompe's under review.

The most important reason for the change was the inconsistent funding of treatments. The Dept of Health recognized these inconsistencies and the additional funding pressure placed on local trusts by the increasing burden of rare diseases that require high-cost drugs.

Six Centres

The six designated centres diagnose, manage, prescribe and deliver treatment to all existing and new patients. They are listed below with A for Adult and P for Paediatric:

Adolescents are managed through a partnership between adult and paediatric centres. Other metabolic centres such as at Birmingham are applying for NSCAG designation in 2007-08.


'The funding available covers enzyme replacement therapy and the newer oral substrate reduction therapy. Only the above designated centres are allowed to prescribe these treatments. Patients can choose which centre to attend subject to referral by their GP.

The change has simplified administration at centres so that decisions regarding a change in dose or the commencement of treatment for a newly diagnosed patient, who meets the agreed protocol for Gauchers, Fabry's or MPS1 disease, can be made directly by the designated clinician. It also means that decisions regarding new therapies and off-label use of existing therapies can be assessed by a Lysosomal Storage Diseases Advisory Group of Clinicians and NSCAG at a national level.

Differences in the UK

Although there is one National Health Service, differences apply within the UK. The funding mechanism described has only been adopted in England and there are other funding arrangements in Scotland, Wales and Northern Ireland.

NSCAG already has an arrangement whereby Scottish patients can be seen in the designated English centres for diagnosis and management. But the decisions on funding treatment still remain with the patient's Local Health Board and is arranged through the National Services Division in Edinburgh.

Welsh and Northern Irish patients can be seen in designated English centres for diagnosis and management, although costs for this access and treatment costs are funded through the Health Commission Wales and the Northern Ireland Health and Social Security Boards which take the respective decisions on treatment funding.

European Economic Area and overseas patients can be seen for diagnosis in the designated centres under an E112 arrangement where there is a reciprocal bilateral health agreement or as private patients. However treatment costs are the responsibility of the patient's country of origin.

The new NSCAG centrally supported system offers improved and speedier access to appropriate existing treatment for English patients and better support for designated centres throughout England. I hope that this new model will be adopted throughout the UK. For me as a commissioning manager in a designated centre, the most radical change has been the reduction in time to start effective and licensed treatment of patients by my clinical colleagues together with a dramatic saving of both my time in letters, telephone calls and follow up.

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Source: Gauchers News June 2006.
© Copyright Gauchers Association 2006