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mitoREGISTER

Recruitment and phenotyping of patients, documentation in web-based register, enabling natural history and controlled clinical studies.

project home: University of München

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).

Targets

The aim of the subproject is the recruitment and standardized phenotyping of 200-250 patients with rare mitochondrial diseases per year and to store these data in the implemented 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 address

Prof. Dr. med. Thomas, Klopstock (Sprecher / speaker)

Thomas Klopstock (Sprecher / speaker), Prof. Dr. med.

University of Munich

Department of Neurology, Friedrich-Baur-Institut

Ziemssenstr. 1, 80336 München

Phone: +49 89 - 4400 - 57400

Fax: +49 89 - 4400 - 57402

Web: http://www.baur-institut.de

Project members

Klaus A. Kuhn, Prof. Dr. med.

Technical University of München

Institute for Medical Statistics and Epidemiology (IMSE)

Ismaningerstr. 22, 81675 München

Phone: +49 89 - 4140 - 4320

Fax: +49 89 - 4140 - 4850

Web: www.mri.tum.de/de/gesundheitsversorgung/ ...

Ludger Schöls, Prof.

University hospital Tübingen

Department of Neurology and Hertie Institute for Clinical Brain Research

Hoppe-Seyler-Str. 3, 72076 Tübingen

Phone: +49 7071 - 29 - 80412

Fax: +49 7071 - 29 - 4839

Web: www.medizin.uni-tuebingen.de

Markus Schülke-Gerstenfeld, Prof. Dr. med.

Charité Virchow Klinikum

Klinik für Pädiatrie m. S. Neurologie

Augustenburger Platz 1, 13353 Berlin

Phone: +49 30 - 4505 - 66468

Fax: +49 30 - 4505 - 66920

Christine Makowski, Dr. med.

Clinic Schwabing

Department of Paediatrics

Kölner Platz 1, 80804 München

Phone: +49 89 - 3068 - 2589

Jochen Schäfer, Dr. med.

Universitätsklinikum Carl Gustaf Carus Dresden

Department of Neurology

Fetscherstr. 74, 01307 Dresden

Phone: ++49 351 - 458 - 4792

Web: www.neuro.med.tu-dresden.de

Gudrun Schottmann, Dr. med.

Charité Virchow Klinikum

Klinik für Pädiatrie m. S. Neurologie

Augustenburger Platz 1, 13353 Berlin

René Santer, Prof. Dr. med.

University hospital Hamburg Eppendorf

Deparmtent of Paediatrics

Martinistr. 52, 20246 Hamburg

Web: http://www.uke.de/kliniken/kinderklinik/

Konstantinos Tsiakas, Dr. med.

University hospital Hamburg Eppendorf

Deparmtent of Paediatrics

Martinistr. 52, 20246 Hamburg

Web: http://www.uke.de/kliniken/kinderklinik/

Georg F. Hoffmann, Prof. Dr. Prof. h.c. (RCH)

University hospital Heidelberg

Department of Paediatrics

Im Neuenheimer Feld 430, 69120 Heidelberg

Matthias Kieslich, Prof. Dr. med.

Universitätsklinikum Frankfurt

Department of Paediatrics - with main focus in neurlogy, neurometabolics und prevention

Theodor-Stern-Kai 7, 60590 Frankfurt am Main

Web: http://www.kgu.de/fachkliniken/zentrum-f ...

Barbara Plecko, Prof. Dr. med.

University of Zürich

Abteilungsleiterin Neurologie - Kinderspital Zürich

Steinwiesstr. 75, CH-8032 Zürich

Web: http://www.kispi.uzh.ch/

Anne-Katrin Güttsches, Dr. med.

University clinic of the Ruhr-University Bochum

Ruhr-Universität Bochum, Bergmannsheil (e)

Bürkle-de-la-Camp-Platz 1, 44789 Bochum

Matthias Vorgerd, Prof. Dr. med.

University clinic of the Ruhr-University Bochum

Ruhr-Universität Bochum, Bergmannsheil (e)

Bürkle-de-la-Camp-Platz 1, 44789 Bochum

Ingeborg Krägeloh-Mann, Prof. Dr. med.

University hospital Tübingen

Department of Paediatrics

Hoppe-Seyler-Str. 1, 72076 Tübingen

Maja Hempel, Dr. med.

University hospital Hamburg Eppendorf

Institute for human genetics

Martinistr.52, 20246 Hamburg

Web: humangenetik@uke.de

Daniela Karall, Prof. Dr. med.

Medical University Innsbruck

Department of Paediatrics

Anichstrasse 35, A-6020 Innsbruck

Web: https://www.i-med.ac.at/patienten/ukl_ki ...

Peter Young, Prof. Dr. med.

University hospital Münster

Department of Sleep Medicine and Neuromuscular Disorders

Albert-Schweitzer-Campus 1, Gebäude A1, 48149 Münster

Web: http://www.klinikum.uni-muenster.de/inde ...

Matthias Boentert, Dr. med.

University hospital Münster

Department of Sleep Medicine and Neuromuscular Disorders

Albert-Schweitzer-Campus 1, Gebäude A1, 48149 Münster

Web: http://www.klinikum.uni-muenster.de/inde ...

Elisa Floride, Dr. med.

Paracelsus Medizinische Privatuniversität, PMU, Salzburger Landeskliniken, SALK

Department of Paediatrics

Müllner Hauptstraße 48, 5020 Salzburg

Web: www.salk.at

Claudia Catarino, Dr.

University of Munich

Department of Neurology, Friedrich-Baur-Institut

Ziemssenstr. 1, 80336 München

Phone: ++49 89 - 4400 - 57421

Fax: ++49 89 - 4400 - 57402

Web: http://www.baur-institut.de

Alexandra Rahmann, Dr. med.

University hospital Münster

Department of Sleep Medicine and Neuromuscular Disorders

Albert-Schweitzer-Campus 1, Gebäude A1, 48149 Münster

Phone: +49 251 - 834 - 4470

Fax: +49 251 - 834 - 4474

Web: http://www.klinikum.uni-muenster.de/inde ...

Literature

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J. Inherit. Metab. Dis. 2013 Jan; 36(1):55-62 - Journal Article

Rudolph G, Dimitriadis K, Büchner B, Heck S, Al-Tamami J, Seidensticker F, Rummey C, Leinonen M, Meier T, Klopstock T, Effects of Idebenone on Color Vision in Patients With Leber Hereditary Optic Neuropathy.
J Neuroophthalmol. 2013 Jan; - Journal Article

Zsurka G, Kunz WS, Mitochondrial involvement in neurodegenerative diseases.
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JIMD Rep. 2012 Nov; - Journal Article

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Mayr JA, Freisinger P, Schlachter K, Rolinski B, Zimmermann FA, Scheffner T, Haack TB, Koch J, Ahting U, Prokisch H, Sperl W, Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.
Am. J. Hum. Genet. 2011 Dec; 89(6):806-12 - Journal Article

Elstner M, Muller SK, Leidolt L, Laub C, Krieg L, Schlaudraff F, Liss B, Morris C, Turnbull DM, Masliah E, Prokisch H, Klopstock T, Bender A, Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions.
2011 Dec; 4(1):43 - Journal Article

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