Therapy for incurable childhood diseases is in sight

Public release date: 8-Dec-2010 [ | E-mail | Share ] Contact: Dr. Paul -kiel.de49-431-880-2216Kiel University

This release is available in German.

Alpha-mannosidosis is a rare childhood disease which causes symptoms such as mental retardation or hearing loss and is linked to a lower life expectancy. A European research team headed by Professor Paul Saftig from Christian-Albrechts-Universit?t zu Kiel (CAU) has developed a form of therapy as part of the Alpha-Man project, which will receive around six million euros from the European Union for its next stage of trials. this will enable the first clinical trials to be conducted on people.

Alpha-mannosidosis is a dangerous hereditary disease which is caused by an enzyme deficiency. this in turn leads sugar to build up in cells, impairing the cell function. “Children who are affected by this disease often appear normal at birth, but their condition worsens increasingly over time. until now there was no possibility of stopping this development”, explains project manager Paul Saftig. “The therapy being developed in our project can drastically increase life expectancy and quality of life.”

The Alpha-Man project is building on two earlier project phases in which research was conducted over a period of roughly ten years, initially at the molecule level and most recently with studies on mice. It was possible to develop the enzyme Lamazym as a therapeutic agent in the course of these projects. “Our approach is to introduce the new agent into the patient’s bloodstream, from where it is absorbed by the cells and can replace the missing enzyme. until now, this method of treatment has shown itself to be the most successful”, says Kiel co-coordinator Dr Judith Blanz.

The clinical trials on patients with Alpha-mannosidosis are to prove how safe and efficient this method is. as soon as the three-year test phase is over, the researchers hope to be able to make the treatment accessible to all those affected by the disease. At the same time, it may be possible to obtain fundamental knowledge of other neurodegenerative diseases, i.e. slowly progressive diseases of the nervous system, in the event of success.

Background information:

The forerunner of the Alpha-Man project was the “Euroman” project, which ran from 2001 to 2004 and received 1.6 million euros in support from the European Union. the project was a systematic and multi-discipline approach to research and therapy of the hereditary lysosomal storage disorder Alpha-mannosidosis. this was followed by the Hue-Man project from 2006 to 2009 (Towards the development of an effective enzyme replacement therapy for human Alpha-mannosidosis), which was provided with a total of 3.2 million euros.

The project is a cooperation of organisations from Germany, Denmark, Belgium, England, France, Norway and Poland.

Further information under: alpha-man.eu

Two Photos are available for download:

uni-kiel.de/download/pm/2010/2010-184-1.jpg Caption: Typical cell modification in the rare Alpha-mannosidosis with sugar build-up (white). Copyright: Paul Saftig

uni-kiel.de/download/pm/2010/2010-184-2.jpg Caption: Microscopic image of the pancreas of a mouse with Alpha-mannosidosis. Top: Abnormal build-up of sugar molecules. Bottom: Healthy cells after therapy. Copyright: Paul Saftig

Contact: Prof. Dr. Paul Saftig Christian-Albrechts-Universit?t zu Kiel Germany e-mail: -kiel.de Telephone: +49 (0)431/880-2216

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Tagged as: alpha mannosidosis, hearing loss, professor paul, rare childhood disease