Allocation of EUR millions from the EU for research into rare disease

Every week, patients from all over Europe with the rare, congenital disease Alpha-Mannosidosis are now being flown to the Department of Clinical Genetics and the Department of Paediatrics and Adolescent Medicine at Rigshospitalet for experimental treatment.

Alpha-Mannosidosis is a very rare, congenital disease. The incidence is one in 500,000. Six Danish patients are currently suffering from this rare disease, which is due to a congenital defect in the alpha-mannosidosis enzyme. The lack of this enzyme gives patients massive physical and mental problems. During childhood patients typically develop mental disabilities, skeletal disorders which affect the children’s looks, muscle symptoms, hearing loss and many infections in the upper respiratory tracts. Previously, there has been no specific treatment for this disease. However, some patients have benefited from bone marrow transplants, provided that they are carried out early in the sickness period.

A new drug under clinical trial
Now, the Scandinavian biotech company, Zymenex A/S, has developed a biotechnologically produced version of the enzyme that such patients are lacking. The drug is called Lamazym and has status as an "Orphan-drug". This means that the drug has been developed for patients with a rare disease. Therefore, Allan Meldgaard Lund, Consultant, MD from the Department of Clinical Genetics at Rigshospitalet, Zymenex A/S as well as other European centres have applied to the EU for support for further development of a new type of enzyme replacement therapy, and the EU has funded the part of the clinical development being carried out at Rigshospitalet’s Department of Clinical Genetics with EUR 2.5 mill.

“This funding is a remarkable milestone in two ways. It is a clear indication from the EU to prioritise and support research into rare diseases, and this is the first time that the EU has provided funding for clinical trials of a new drug,” said Allan Meldgaard Lund, Consultant, MD, Department of Clinical Genetics.

Project team and players at Rigshospitalet
Allan Meldgaard Lund, Consultant, heads the project team, which consists of Christine I. Dali, Consultant, and Line G. Borgwardt, Physician and PhD student, as well as two research assistants in nursing Camilla Sørensen and Marianne A. Luiten. The project is being carried out in cooperation with the Department of Paediatrics and Adolescent Medicine, where patients from different European countries are being treated every week. Many other specialist areas at Rigshospitalet are also involved in the project, and are responsible for the comprehensive evaluations of effects and response to the treatment.

Project phases and trials
Phase 1 of the project, with the first dosages of Lamazym in humans, began in December 2010. In this phase, the objective was to investigate how the enzyme was tolerated. This was done without problems and without side effects from the enzyme. The weekly infusions continued in January 2011 in the project’s phase 2a, which is still in progress. In this phase, trials for side effects will continue. At the same time, dosage-effect relationships are being studied as well as the effect of the enzyme on patients’ clinical symptoms, in a number of tests every three months.

Children’s lives with new perspectives
“Obviously, the trials are a huge burden on the families, although they have been very enthusiastic about them. Many have never been with children and young people suffering from Alpha-Mannosidosis before and they have enjoyed this contact. Many participants did not speak the same language, but they still enjoyed each other’s company and a trip to Tivoli, which was possible in between trails,” said
Allan Meldgaard Lund, Consultant.

The goal of the Department of Clinical Genetics and the Department of Paediatrics and Adolescent Medicine is to be able to offer specific treatment to children and young people suffering from Alpha-Mannosidosis. With preliminary results, this goal has come a little closer.