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Patients with rare diseases benefit from European research networks

Almost all congenital neurodegenerative diseases are rare diseases. In some types of spinocerebellar ataxia and spastic paraplegia, the number of people affected is so small that the search for the causes of the disease seems to be an almost hopeless endeavour. Human geneticist Prof. Dr. Olaf Rieß and neurologist Prof. Dr. Ludger Schöls from the University Hospital Tübingen are now hoping to promote research and improve the medical treatment of such patients with the aid of two new European networks.

In Germany, people suffering from spinocerebellar ataxia (SCA) or hereditary spastic paraplegia (HSP) often spend years consulting doctors and other specialists before a diagnosis is finally made. In many cases, symptoms such as instability in walking and the gradual progress of unclear speech – caused by the progressive loss of nerve cells in the central nervous system – are often misinterpreted, especially in the early stages. The majority of sufferers, who experience the first signs of the disease between 20 and 40 years of age, are therefore forced to undergo innumerable examinations and unsuccessful treatments. However, considering that there are only 2000 to 3000 sufferers of SCA or HSP in Germany, the difficult road to the correct diagnosis is somewhat understandable. During their professional life, only very few doctors will ever see a patient suffering from one of these rare congenital diseases. Thus, knowledge of the disease symptoms is often hard to remember over such a long time.
Prof. Dr. Olaf Rieß researches the genetics of rare neurodegenerative diseases. (Photo: University Hospital Tübingen)
The rarity of these incurable diseases represents a dilemma not only for sufferers, but also for scientists. Scientists investigating these diseases are confronted with a number of difficulties, including the low number of patients, that makes the search for causes of the disease quite complicated. The scientists’ work is further hampered by the fact that SCA and HSP can be divided into 30 to 50 subtypes that result from completely different gene mutations. “Some subtypes have only been diagnosed in one single family worldwide,” said Prof. Olaf Rieß, head of Medical Genetics at the University Hospital in Tübingen. In such cases, the identification of the relevant mutations can quickly become a hopeless endeavour. However, the disease-causing genes need to be isolated and characterised in order for specific therapies to be developed.

Task sharing accelerates research work

This is why Rieß and his colleagues, Dr. Peter Bauer and Dr. Ludger Schöls, from Tübingen have joined forces with a number of other European work groups to establish two research networks to investigate these rare neurodegenerative diseases on a European-wide level. The EUROSPA (Hereditary Spastic Paraplegia) network focuses in particular on the identification of further HSP genes. “All the EUROSPA partners have already been able to recruit a large number of HSP patients,” said Rieß adding that “by combining the information collected by the individual groups, we might be able to discover families with the same subtype.” The chance of finding the disease-causing gene mutation is thus considerably increased. Another advantage of this European cooperation is that it will enable research to be carried out much faster in future. “A single laboratory is no longer able to cope with the huge amount of work,” said Rieß, speaking from experience. With this in mind, the EUROSPA concept is focusing on the effective distribution of work among the partners.

The Network for Spinocerebellar Ataxias (RISCA) is aimed at identifying the early symptoms of SCA. The mutated gene is known in two thirds of all SCA subtypes, but astonishingly little is known about the natural course of the disease. “Although many people around the world are researching spinocerebellar ataxias, it is still not known whether it is motor disorders, deficiency in concentration or some other neurological symptoms that herald the onset of the disease,” said Rieß. It is also not known how rapidly the disease progresses, and the factors that promote disease progression. The RISCA partners will recruit a cohort of 250 individuals with the known gene mutation and who are at risk of developing SCA and follow them over several years to identify the earliest and most sensitive clinical signs. The knowledge gained is of great importance for the development of SCA therapies. “Only precise knowledge of the symptoms and progression of a disease will enable the reliable assessment of the efficacy of a new therapy,” said Rieß.
computerized tomogram of a head
Substantial nerve cell loss in the cerebellum (arrow) of a patient with spinocerebellar ataxia. (Photo: Schöls, University Hospital of Tübingen)

Patients need specialised treatment centres

Being able to cure the disease is not the scientists’ primary goal. It would already be an enormous success if they were able to postpone the onset of disease in some SCA subtypes by a few years. For sufferers, the majority of whom become wheelchair-bound around 15 years after the onset of the disease, the possibility of increasing life expectancy by a decade would represent huge progress. “We have already developed some promising therapeutic concepts in animal models,” said Rieß. It is still too early for clinical patient studies, but the scientists are hopeful that the European network might also be effective in this respect. “If, at some stage in the future, we have a promising drug to treat the disease, we will be in a good position to be able to effectively test the effect of the drug because we have a sufficiently high number of informed and interested patients listed on our registry,” said Rieß.

Rieß is concerned with not just concentrating on research into these diseases but also on the actual medical treatment of sufferers. He feels that, especially in Germany, there are some deficits. “We need specialised treatment centres for these rare diseases and specifically trained doctors – not only for neurodegenerative diseases, but also for rare skin diseases,” said Rieß. This is already standard in France and Romania, for example. Not so in Germany. “And we also lag considerably behind others in terms of social care for patients,” said Rieß. A specialised centre would be able to support the patients in negotiations with health and care insurances. “Occasionally, patients are unaware of what support and aid they are entitled to,” said Rieß referring to the fact that little things like this might just help to make sufferers’ lives easier.


sb - 16 September 2008
© BIOPRO Baden-Württemberg GmbH
Further informaiton:
University Hospital of Tübingen
Institute of Human Genetics
Department of Medical Genetics
Prof. Dr. Olaf Rieß
Calwerstraße 7
72076 Tübingen
Tel.: +49 (0)7071 29-72288
Fax: +49 (0)7071 29-5171
E-mail: olaf.riess@med.uni-tuebingen.de
Website address: https://www.gesundheitsindustrie-bw.de/en/article/news/patients-with-rare-diseases-benefit-from-european-research-networks