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Background Info

The AGSD would like to commend the extensive work undertaken by the previous Public Petitions Committee in consideration of petition PE1108 which led, directly, to revised guidelines being issued by the Scottish Government on the ‘end to end’ process from licensing of medicines through to individual patient treatment requests (what was known as ‘exceptional prescribing’). However refusals are being given when IPTRs are done for patients with Pompe disease as they cannot meet the referral criteria for IPTRs within the latest CMO letter (see page 7 of attachment below).


There are currently just 11 patients diagnosed with Pompe disease living in Scotland. Three of these patients are receiving enzyme replacement therapy, Myozyme. A further two of these patients have suffered rejections for funding for Myozyme from their NHS boards, even when recommended by a specialist who has exercised professional judgement based on clinical need. There is no other therapy available, just palliative care.

The best therapeutic results are achieved when enzyme replacement therapy is started early in the course of symptom development and before irreversible muscular damage has occurred.

Without therapy, progression will occur with the disease spreading to the respiratory muscles, which may precede limb muscular weakness. Over a 2 year period the need for respiratory support increases as functional activity decreases. It does not matter how old or young a patient is; the longer the time since diagnosis, the higher the probability of wheelchair or ventilator dependency.

Late-onset Pompe disease should be viewed as a progressive disorder for which timely intervention is required to prevent further loss of function.

One patient with late onset Pompe disease who resides within NHS Tayside is receiving Myozyme, whereas another patient with late onset Pompe disease who resides within NHS Ayrshire & Arran cannot receive Myozyme – even when recommended by a specialist who exercised professional judgement based on clinical need – as the recommendation “provided no further important information to uphold the appeal, or impact on the QALY cost, and subsequently on the opportunity cost implications for NHS Ayrshire & Arran.” Both the NHS Tayside & NHS Ayrshire & Arran patient were assessed and recommended for therapy by the same specialist.

Since September 2001, all new medicines have been assessed for use in NHS Scotland by the Scottish Medicines Consortium through Health Technology Appraisals. The very small population associated with an Orphan Medicine, along with high development costs, make it extremely difficult to attain a QALY anywhere near the accepted QALY by an HTA group. This means that the SMC tends not to approve products to treat an Orphan Disease as these products will never be cost effective.

It appears that the Deputy First Minister and Cabinet Secretary for Health, Wellbeing & Cities Strategy, Nicola Sturgeon, is under the impression the decision on whether an orphan medicine can be given or not is based upon clinical need as evidenced by a specialist whereas in reality the decision is based upon cost efficacy.

This means that NHS Boards are not responding flexibly and favourably to IPTR requests, even when the access to a medicine is recommended by a consultant.

Therefore the Association for Glycogen Storage Disease (UK) calls upon the Committee to ask the Scottish Government to ask the CMO to rectify this iniquitous situation immediately by revising the referral criteria for IPTRs for patients with Pompe disease. This will allow the few patients residing in Scotland to access therapy, when recommended by a specialist exercising professional judgement based on clinical need, and not for NHS Boards to rely upon cost implications for decisions to impact upon access to therapy for this orphan disease.


AGSD-UK Pompe disease website: www.pompe.org.uk

Pompe Bulletin: www.pompe.org.uk/images/stories/pompebulletin%2017.pdf

AGSD-UK website: www.agsd.org.uk

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