mitoREGISTER:
Horizontal Clinical Network & Register for the German Network for Mitochondrial Diseases
State of the art
The rare mitochondrial diseases addressed by the mitoNet consortium are markedly heterogeneous and may manifest as fatal multisystem disorders of infancy, severe neurological syndromes in adolescents and young adults or as milder oligosymptomatic variants in older adults. They often lead to chronic morbidity and increased mortality. The enormous progress that has been achieved in the last two decades in deciphering the molecular mechanisms of mitochondrial diseases has not led until now to major improvements of treatment, not to mention causal therapies. This is all the more unfortunate, as the primarily functional energy deficiency may well be amenable to energy-restoring therapies. Thus, the absence of therapeutic options is not caused by principal biological limitations, but rather by "paramedical" hurdles. Rarity and heterogeneity of the disorders, lack of awareness, and incompleteness of the diagnostic armamentarium all contribute to the virtual lack of large and comprehensive patient registers, natural history data, and controlled clinical trials. These deficits are encountered worldwide, accordingly mitochondrial research groups are also forming in other countries (such as England, Italy, USA).
Aims of the project
The aim of the subproject is the recruitment and standardized phenotyping of 250 patients with rare mitochondrial diseases per year and the implementation and maintenance of a clinical Register. Building of this centralized register structure will provide the opportunity to overcome fragmentation of local patient collections and thus enable formation of large cohorts to promote basic and clinical research in the field. Together with the collection of corresponding biosamples, this Register will set the stage for morphological, biochemical and genetic profiling as well as genotype-phenotype correlations. Furthermore, the Register will enable longitudinal studies delivering urgently needed data on the natural course of mitochondrial diseases. These data will facilitate the design of future clinical trials, and the patient cohorts in the Register will facilitate patient recruitment for upcoming trials. Moreover, the Register is essential to all proposed research projects in mitoNet, as they rely on high-quality phenotype data to correlate with their scientific findings. Long-term, the proposed Register will therefore help to improve diagnostic and therapeutic efforts in the care of patients with rare mitochondrial diseases.
Project management and contact addresses
Thomas Klopstock, Prof. Dr. med. (Principal Investigator)
Department of Neurology, Friedrich-Baur-Institut
University of München
Ziemssenstr. 1, 80336 München
Tel: +49-89-5160-7470
Fax: +49-89-5160-7402
E-mail: thomas.klopstock@med.uni-muenchen.de
Klaus A. Kuhn, Prof. Dr. med.
Institute for Medical Statistics and Epidemiology (IMSE)
Technical University München
Ismaningerstr. 22, 81675 München
Tel: +49-89-4140-4320
Fax: +49-89-4140-4850
E-mail: klaus.kuhn@tum.de
