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Rare Diseases And Orphan Drugs: Global News (08.05.13)

August 5, 2013

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

I – Europe

Aegerion Pharmaceuticals announces on August 1, 2013, that the European Commission (EC) approves Lojuxta (Lomitapide) for adult patients with Homozygous Familial Hypercholesterolemia (HoFH). In the US, the drug known as Juxtapid, receives FDA approval in December 2012 with a launch in January 2013. The EC approval is granted after a unanimous positive EMA CHMP opinion in May 2013. The drug launch in Europe is expected on a limited basis, for the late 3rd Quarter 2013.

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.

The EC is setting up a panel of experts to help direct its activities and policy-making in the area of rare diseases. The new group “is a revamp of the European Union Committee of Experts on Rare Disease (EUCERD) – which was set up in 2009 but whose term of office came to an end on July 26.”

uniQure, a human gene therapy company, has a busy July 2013:

•   July 9, 2013 announcement that the company signs a collaboration agreement with Chiesi Farmaceutici SpA for:

1.The commercialization of Glybera, the 1st gene therapy to receive regulatory approval in Europe
2. Co-development of a gene therapy for Hemophilia B

•   July 29, 2013 announcement of the start of a Parkinson’s Disease (PD) gene therapy Phase I trial by UCSF/NIH to test its Glial Cell Line-Derived Neurotrophic Factor GDNF gene in patients

•   July 30, 2013 announcement that the company is to build a 55,000 square foot state-of –the-art gene therapy production plant in Massachusetts, US, for the production of Adeno Associated Virus (AAV)-based gene therapy products.

II – Thailand

According to an online August 5 article in The Nation, plans are to set up a database for rare inherited metabolic disorders called Lysosomal Storage Diseases (LSDs) in Thailand.  There are about 50 LSDs that result from the dysfunction of lysosomal – a specific organelle in body cells – usually caused by the deficiency of a single enzyme required for the metabolism of lipids, glycoproteins or so-called mucopolysaccharides. In Thailand, most patients are diagnosed with:

•   Mucopolysacchridosis (MPS)
•   Pompe Disease
•   Gaucher Disease
•   Fabry Disease.

According to the article, there are only 12 genetic experts in Thailand. The country sees an estimated 5-10 new cases of LSD/year. Recently the Genetic LSD Foundation is set up to help LSD families get government assistance, offer help to the affected families, and to spread news about LSD to the public. The Genetic LSD Foundation last year receives Genzyme’s Patient Advocacy Leadership (PAL) award.

III – China

The third China-Dolls National Conference for People with Osteogenesis Imperfecta (OI), is held in Beijing, China, August 3-5, 2013. OI is a rare disease where patients have what is referred to as “brittle bone disease”. The bones of patients with OI get fractured easily due to the genetic bone disorder which strikes about 1 in 10,000 – 15,000 people. An easy bump can make OI patients’ bones break.

IV – New Zealand

An online August 5 article in The Daily Blog, discusses the Labour Party’s announcement, that if elected next year, there will be a new policy to create a new fund for purchasing orphan drugs for rare diseases. Orphan drugs are not funded by PHARMAC, New Zealand’s Pharmaceutical Management Agency.

V – US

aTyr Pharma, a San Diego-based company developing innovative protein therapeutics focusing on rare diseases, announces July 29, 2013, the successful completion of a $49 million financing. The financing will support the clinical development of aTyr Pharma’s first therapeutic program to treat rare autoimmune diseases and a rare disease pipeline in immune disorders.

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

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

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