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Rare Diseases And Orphan Drugs In The UK

February 14, 2013

The publication of two reports present the current status of rare diseases and orphan drugs in the UK.

The first report titled, ”Forgotten Conditions: Misdiagnosed And Unsupported, How Patients Are Being Let Down”, is published in September 2012, by the well-known think-tank The report says that rare diseases in the UK are either misdiagnosed or missed by GPs, and is a growing problem. Also, it reports on the disparity between the countries in the UK, with the NHS providing an unequal service when it comes to orphan drug access. Here are several conclusions from the report :

–  Patients with rare diseases have less of a chance getting access to orphan drugs if they live in England rather than in Wales or Scotland

–  The European Medicines Agency (EMA) has approved 68 orphan drugs

–  The National Institute for Health & Clinical Excellence (NICE) has assessed only 18 of these 68 orphan drugs. Of these 18, NICE recommends 7 become available on the NHS in England & Wales, and another 5 available under certain restrictions

–  The Scottish Medicines Consortium (SMC), NICE’s equivalent in Scotland, has examined 56 of the 68 orphan drugs. SMC made 14 available & 14 available under certain situations

–  The All Wales Medicine Strategy Group (AWMSG), NICE’s equivalent in Wales, has examined 51 of the 68 orphan drugs. AWMSG made 12 available & 9 available under certain situations.

The second report titled, ”Experiences Of Rare Diseases: An Insight From Patients And families”, is published by Rare Disease UK (RDUK), a National Alliance for people with rare diseases in the UK. Key statistics from this report support the claim by the first report, that rare diseases in the UK are either misdiagnosed or missed by the healthcare establishment.

The Orphan Medicines Industry Group (OMIG) is a group of pharmaceutical companies that are members of the Association of the British Pharmaceutical Industry (ABPI) working together for the benefit of patients with rare diseases in the UK to enure access to drugs.

The UK’s Health Technology Assessment (HTA) group, NICE (National Institute of Health and Clinical Excellence), just released a new draft decision on February 13, 2013, not to recommend reimbursement for Ruxolitinib (Jakavi, Novartis), a 1st-in-class new drug for Myelofibrosis, a blood cancer. An interesting article from examines whether this decision will undermine investment in orphan drugs. At issue is not the efficacy and safety of the drug, but whether it is cost-effective when compared to other available therapies for this rare disease.

Already mentioned several times in the Orphan Druganaut Blog is the fact that starting April 2013, NICE will be reviewing the high cost of orphan drugs. NICE is going to start reviewing and evaluating what it calls the “very high cost of drugs for people who suffer with rare conditions” under UK’s new Health and Social Care Act of 2012. NICE will conduct assessments of orphan drugs’ value relative to its cost, societal impact, and benefit to patients.

A UK November 2012, article titled, “Govt Urged Over Access To Rare-Disease Drugs”, summarizes 358 responses that have been received by the Department of Health’s consultation, on the proposed UK Plan for Rare Diseases. The UK government has been told that “ … earlier-access schemes for drugs to treat these conditions (rare) should be considered ….”. The UK Plan for Rare Diseases is to be published during the 1st half of 2013.

An October 2012, article titled, “Patients With Rare Conditions Face Postcode Lottery”, in the UK newspaper, The Guardian, discusses the status of patient access to orphan drugs in the UK. The article says that “research shows that patients with rare conditions have less of a chance of accessing orphan medication if they live in England”.

An article written by Buddug Cope from, Genetic Alliance UK, gives a unique perspective on living with a rare disease in the UK.

Information on events for Rare Disease Day, February 28, 2012, in the UK can be viewed here.

Copyright © 2012-2013, Orphan Druganaut Blog. All rights reserved.

  1. Another great feature on rare diseases and the European market…keep up the great blog.

    • Thanks so much for visiting & providing a thumbs up !! Any suggestions for topics or articles or other contriutions will be very helpful !! Thanks agian & great Daily you are providing also.

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