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Rare Diseases And Orphan Drugs: Global News (09.11.13)

September 11, 2013

Recent orphan drug and rare disease global developments are in the news. Here is a list and description of recent developments:

I – Japan

Aegerion Pharmaceuticals announces on September 9, 2013, that Japan’s Ministry of Labour, Health and Welfare, grants orphan drug designation to Lomitapide for the treatment of rare disease Homozygous Familial Hypercholesterolemia (HoFH). In Japan, a drug can be designated as an orphan drug, if the drug is for use in fewer than 50,000 patients and there is a high medical need.

HoFH is a serious, rare genetic disease that impairs the function of the receptor responsible for removing low-density lipoprotein cholesterol (LDL-C or “bad” cholesterol) from the body. A loss of LDL receptor function results in extreme elevation of blood cholesterol levels.

In the US, Lomitapide, known as Juxtapid, receives FDA approval in December 2012 and launches in January 2013. The EC approval is granted in August 2013, with a launch in Europe expected on a limited basis, for the late 3rd Quarter 2013.


Ultragenyx Pharmaceutical, a California-based biotechnology company, announces on September 3, 2013, the formation of a new partnership to co-develop KRN23, a rare bone-disease drug from Japan’s Kyowa Hakko Kirin. KRN23 is an antibody designed to treat rare disease, X-Linked Hypophosphatemia (XLH). XLH is caused by poor mineralization of bone that can result in short stature and other problems.

A San Francisco-based company, iPierian, launches a new biotechnology company, True North Therapeutics. True North Therapeutics’ mission is to develop drugs for rare diseases in the hematologic, renal, and neurological space.


At the beginning of September 2013, the All Party Parliamentary Group (APPG) for Muscular Dystrophy publishes a report, ‘Access to High-Cost Drugs for Rare Diseases”. The APPG for Muscular Dystrophy promotes awareness of all forms of Muscular Dystrophy and also, helps to form links between Parliament, charities, scientists, and families in the UK. The report identifies four points:

•   “Government to establish a ring-fenced fund for rare disease drugs to ensure that patients affected by rare diseases are not denied treatments

•   National Institute for Health and Care Excellence (NICE) to assess treatments for rare conditions in a different way from less rare conditions – ensuring an appropriate and effective cost benefit analysis

•   Medicines and Healthcare Products Regulatory Agency, NICE, and NHS England to speed up access to life-changing drugs after the final stages of clinical trials to ensure there are no major delays in treatments reaching children

•   NHS England to ensure specialist centers are equipped with an appropriate range of healthcare professionals to deliver treatments.”

The report contains 2 case studies:

•   Vertex Pharmaceuticals’ orphan drug Kalydeco (Ivacaftor) for Cystic Fibrosis
•   Alexion Pharmaceutials’ orphan drug Soliris (Eculizumab) for aHUS.

Please Note: “ApplicAtations-internet” PNG File By The Tango!Desktop Project | Wikimedia Commons.

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