The ALS outpatient department is a study centre for basic research into the cause and treatment of ALS. The research projects are conducted partially in cooperation with other clinics and institutes in Berlin and the rest of the Federal Republic of Germany.

As a patient, you can actively support existing research activity by your participation. The collaboration of each patient is very important for answering many scientific questions in the area of ALS. The main emphasis of our research projects is on molecular biology, cytogenetic and neurochemical investigations.

Participation in the research projects usually consists of a simple blood test taken from a vein, just as your family doctor might do. To participate in the study, 5 blood tubes (Monovettes) with a total volume of about 35 ml have to be taken. Participation in the studies is:

• voluntary
• anonymous
• free of charge

By participating, you permit information relating to the project to be stored on a computer, exchange of this information in the context of scientific collaboration and possibly publication in scientific journals. Patient related data are always handled anonymously. You are asked to participate in two studies.

Research project 1 – gene variants in ALS
Investigation of certain gene variants aims to identify ALS risk factors. This project is part of an overall concept in which different genetic risk factors especially of the non familial form of ALS will be detected. This information may be important for assessing risk and prognosis and also for elucidating the cause of ALS. In this connection, a permanent cell culture is established by conversion of a few removed blood cells (lymphocytes). This cell culture can be stored for many years and allows investigation material, especially DNA, to be obtained repeatedly.

Research project 2 – genetic variants and function of superoxide dismutase (SOD1)
Fewer than 5% of ALS patients have a hereditary (familiar) form of the disease. About 10% of these familial patients exhibit mutations in the superoxide dismutase gene (SOD1). The significance of genetic changes in the SOD1 gene in patients without a familial incidence (sporadic form of ALS) is largely unknown. This research project is intended to investigate whether genetic variants or functional changes of SOD1 are also detectable in isolated cases in the sporadic form of ALS. With this objective, a mutation analysis and studies of the biochemical activity of SOD1 will be performed in collaboration with Prof. Dr. Peter Andersen, a Swedish neurologist and SOD1 researcher in Umea, Sweden.

Molecular genetic investigations are a complex process that can take several months. The investigation is performed exclusively for basic scientific reasons. A diagnostic or prognostic conclusion from our results is so far very uncertain so that we regularly forego communicating the result. The result of the SOD1 test is notified only if explicitly desired.