Launch of new lysosomal acid lipase deficiency educational resource on

Kent, UK, April 19, 2016 — /EPR NETWORK/ —, the website for healthcare professionals, has today announced the launch of a new educational resource for lysosomal acid lipase (LAL) deficiency. The LAL Deficiency Knowledge Centre is intended to provide important disease awareness and treatment information to healthcare professionals involved in the treatment and management of this extremely rare and life-limiting disorder.

LAL deficiency is an autosomal recessive lysosomal storage disorder resulting in marked lysosomal accumulation of cholesteryl esters and triglycerides. This condition has multi-organ involvement including the liver, spleen, and cardiovascular system. The two major phenotypes of this condition are a rapidly progressive form in infancy (formerly known as Wolman disease) and a later-onset progressive form in children and adults (formerly known as cholesteryl ester storage disease, CESD). The prognosis for infants presenting with LAL deficiency is very poor; median age at death was 3 months in untreated patients, and 8.6 months in infants who received a transplant.1 Without treatment, infants with LAL deficiency suffer from rapidly progressing failure to thrive, and liver disease progressing to liver failure.2

The LAL Deficiency Knowledge Centre can be accessed at the following address: Registered users of can access clinical content in this educational resource in full and free of charge. A disease awareness section contains information such as epidemiology, pathophysiology, genotypic presentation, diagnosis, prognosis and more. A treatment section presents the drug characteristics, safety and efficacy of sebelipase alfa – the first and only licenced treatment for LAL deficiency. Lastly, the resources section compiles useful external links, an events calendar and a video channel with short expert video discussions on topics such as diagnostic approach and current prognosis.

Dr Toby Galbraith, Director of Content Strategy for, said: “There is clear need for an educational resource to equip healthcare professionals with the knowledge and awareness to accurately diagnose this rare and debilitating condition, and where possible initiate the therapy needed to improve outcomes for patients.” The LAL Deficiency Knowledge Centre has been developed by EPG Health Media (Europe) Ltd for, in collaboration with (and with some content provided by) Alexion Pharma GmbH.

Notes to Editors:

• EPG Health Media (Europe) Ltd publishes, an independent website dedicated to providing healthcare professionals worldwide with free access to a comprehensive range of disease and medicines information. Categorised by medical specialty, content within includes a multi-language database of approved medications, treatment guidelines, clinical trial information, journal abstracts, latest medical industry news, apps and a blog written by members.

• Alexion is a global biopharmaceutical company focused on developing life-transforming therapies for patients with devastating and rare diseases. Alexion was established in the U.S. in 1992 with global headquarters and research operations in New Haven, Connecticut as of early 2016. Alexion has approximately 3,000 employees around the world-serving patients in 50 countries. Alexion’s metabolic franchise includes two highly innovative enzyme replacement therapies for patients with life-threatening and ultra-rare disorders including Kanuma™ (sebelipase alfa) for patients with lysosomal acid lipase deficiency (LAL deficiency).


1. Jones SA, Valayannopoulos V, Schneider E, Eckert S, Banikazemi M, Bialer M, et al. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. Genet Med. 2015 Aug 27. doi: 10.1038/gim.2015.108.
2. Leone L, Ippoliti PF, Antonicelli R, Balli F, Gridelli B. Treatment and liver transplantation for cholesterol ester storage disease. J Pediatr. 1995;127(3):509-510.

Contact-Details: Kristie Marchant (
EPG Health Media (Europe) Ltd
51-55 The Pantiles
Tunbridge Wells

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