Current Studies

Previous studies have found an association between sleep disorders and fatigue in patients suffering from multiple sclerosis (MS). Therefore, it is safe to assume that fatigue is at least one possible cause of an existing sleep disorder. Our latest study looks further into this connection by investigating whether treating sleep disorders in patients with MS also alleviates fatigue.

In this respect, MS patients that have been diagnosed with a sleep disorder in the sleep lab are randomly assigned to either a treatment group or a control group. The treatment group receives sleep medication therapy during the entire study. The control group will continue with the previous treatment for fatigue and will only receive sleep medication therapy six months later, once the study has been completed. Women and men between the ages of 18 and 75 suffering from any form of multiple sclerosis can take part. The study will be carried out at the NCRC in Berlin, Mitte. Each participant will receive a one-time remuneration.

Title of study: Effects of sleep medication treatment on fatigue in multiple sclerosis patients with elevated values ​​in the Modified Fatigue Impact Scale (> 34) or the Pittsburgh Sleep Quality Index Questionnaire (> 5) as part of a prospective controlled trial study (sleep and MS)

Participation in the study entails the following:

- There will be an initial question and discussion session to clarify and provide information which will include a physical examination. In addition, some written questionnaires will be completed.

- The diagnostics of the sleep medication therapy will take place during a two night stay in the sleep laboratory and will include multiple sleep latency tests (MSLT) during the day

- Patients of the therapy group will also be taking the sleep medication therapy. This medication can vary considerably, depending on the kind of sleep disorder and overall medical condition.

- A final doctor's examination takes place six months after the start of the sleep medication therapy or the waiting phase. All patients will fill out additional questionnaires at that time.

Contact for patients interested in the study:

Gritt Stoffels
030 - 450 539 040

gritt.stoffels@charite.de

Katharina Stößlein
030 - 450 539 773

katharina.stoesslein@charite.de

Management for the study is carried out by:

Prof. Dr. Friedemann Paul (AG Klinische Neuroimmunologie, NCRC) und Christian Veauthier, M.D. (Medizinische Klinik mit Schwerpunkt Kardiologie und Angiologie / Interdisciplinary Center for Sleep Medicine Zentrum; CCM) Charité - Universitätsmedizin Berlin NeuroCure Clinical Research Center

AG Klinische Neuroimmunologie

www.ncrc.de

Acute optic nerve inflammation (optic neuritis) is one of the most common symptoms of both multiple sclerosis (MS) and neuromyelitis optica spectrum disorders (NMOSD). Optic nerve damage usually leads to a rapid loss of visual function in the affected eye. One crucial factor in determining what course the disease will take, as well as what therapy the patient will receive, is whether the inflammation can be clearly diagnosed as MS or NMOSD at an early stage in its development.

In current clinical practice, even comprehensive diagnostics -- including serological blood tests for detecting antibodies, lumbar puncture and conventional MRI imaging – cannot adequately distinguish between MS and NMOSD with a high degree of accuracy. As a result, misdiagnosis is common in diseases that involve optic nerve inflammation. This is especially true in early stages of the disease when specific therapies are needed. Absence of such therapies due to misdiagnoses can result in serious consequences for patients and have a marked negative impact on the course of the disease, sometimes leading to significant impairments in the patient’s overall quality of life.

In order to better differentiate between MS and NMOSD in the future, in the OPTICON-Study, we would like to use magnetic resonance imaging (MRI) with diffusion tensor imaging (DTI) to provide a closer examination (often referred to as a ‘differential diagnosis’) of optic nerve damage.

DTI imaging provides more accurate measurements of optic nerve damage, especially damage caused by inflammation which goes unseen in routine MRI methods of measurement. If DTI imaging can detect differences in the location and extent of optic nerve damage due to inflammation, this method could significantly improve the chances of an accurate, early differential diagnosis that distinguishes between MS and NMOSD.
 
Principal Investigator: Prof. Dr. med. Friedemann Paul (Head of Neuroimmunology, NCRC)

Multiple Sclerosis (MS) is an autoimmune disease of the central nervous system leading to demyelination, axonal damage and neurodegeneration and thus to impairment of motor and sensory skills. In addition to these key somatic symptoms, MS is also linked to dysregulated functioning of cognitive and emotional processes and these factors interact with key somatic symptoms. For example, MS is associated with depression on a phenomenological level, MS patients are characterized by reduced levels of the depression-related neurotransmitters, and several studies have shown that psychotherapy for depression treatment can improve immunological factors and clinical disability in addition to depression in MS patients.

Despite this interaction, however, biological emotional mechanisms in MS have not yet been investigated sufficiently in terms of neural responses to emotional stimuli although this would be important for several reasons.

First, the impact of emotional stimuli might critically rely on the cognitive coping with these stimuli which are closely reflected by immediate brain responses to such stimuli. Second, dysregulated neural responses to depression-related affective stimuli are key mechanisms of depression in patients not suffering from MS that reflect increased emotional reactivity and deficits in engaging regulatory processes and are closely related to severity of depression.

Consequently, we conduct the research project COGEMS that aims to investigate the neural processes related to emotional and cognitive processes in MS and the link of these factors to clinical disability. For this purpose, we will examine depressed and non-depressed relapsing-remitting MS patients and healthy controls in two functional MRI experiments.

Using this approach, we hope to improve our understanding of the neural mechanisms of emotional and cognitive factors in MS, their role for disease severity, and thus finally to reveal novel neurobiological targets for MS treatment.

Flyer

Contact:

Dr. Martin Weygandt martin.weygandt@charite.de (Studienleitung)

Katharina Stößlein katharina.stößlein@charite.de (Studynurse)

Investigators:

Prof. Dr. Friedemann Paul (AG Klinische Neuroimmunologie, NCRC),

Dr. habil. rer. nat. Martin Weygandt (AG Klinische Neuroimmunologie, NCRC),

Prof. Dr. rer. nat. John-Dylan Haynes (Bernstein Center for Computational Neuroscience Berlin/ Klinik für Neurologie),

Prof. Dr. phil. Stefan M. Gold (Klinik für Psychiatrie und Psychotherapie CBF - Forschung Klinische Psychiatrie)

Initial studies and gained experiences suggest a certain impact of nutrition on multiple sclerosis and open up the potential possibility of influencing the disease progression with specific diets.

The NAMS Study is a successor of the IGEL Study that has shown positive results regarding quality of life and blood lipids through fasting therapy and ketogenic diet in patients with multiple sclerosis. The NAMS Study aims to investigate the efficacy of three different diets on central nervous lesions as well as on functional limitations, relapse rate, blood lipids, gut flora, and other parameters.

These diets include:
1. Intermittent fasting, 7 days, 3 times, every 6 months with a daily fasting period of 14 hours

2. Adapted ketogenic diet, a fat-rich and carbohydrate-reduced diet

3. Anti-inflammatory diet, a predominantly plant-based diet referring to the current recommendations of the German Society for Nutrition (DGE).

Patients with relapse remitting multiple sclerosis who are between 18-65 years old can take part in the study. The study visits will take place at Charité Campus Mitte. In total 6 study visits over 18 months are scheduled. The patients will receive disease-related nutritional therapy in small groups. The first cohort started in May 2017 and patients for the following cohort can now be screened.

 
Die richtige Ernährung bei Multiple Sklerose (01.03.2018 | 9 Min. | Source: Rundfunk Berlin-Brandenburg)
Xenius Autoimmunerkrankung: Der eigene Körper als Feind (02.05.2018 I 2 Min. I Quelle: Xenius Arte)

Contact: Lina Bahr lina.bahr@charite.de

Investigators: Prof. Dr. Friedemann Paul (AG Clinical Neuroimmunology, NCRC), Prof. Dr. Andreas Michalsen (Immanuel Hospital)

This progression investigation is oriented towards patients who have only been suffering from multiple sclerosis for a short period of time or who have been diagnosed with so-called "clinically isolated syndrome" (CIS). This is an observational study which is intended to help the understanding of the disease in its earlier stages and to develop markers for progression and prognosis. At regular intervals, the study participants receive, among other things, a neurological examination, an MRT examination and optical coherence tomography.

Study Director: Prof. Dr. Friedemann Paul (WG Clinical Neuroimmunology, NCRC, ECRC)

clinicaltrials.gov

Publications:

Weygandt, M., L. Meyer-Arndt, J. R. Behrens, K. Wakonig, J. Bellmann-Strobl, K. Ritter, M. Scheel, A. U. Brandt, C. Labadie, S. Hetzer, S. M. Gold, F. Paul, and J. D. Haynes. "Stress-Induced Brain Activity, Brain Atrophy, and Clinical Disability in Multiple Sclerosis." Proc Natl Acad Sci U S A 113, no. 47 (Nov 22 2016): 13444-49. http://dx.doi.org/10.1073/pnas.1605829113. Link

Derkow, K., J. M. Bauer, M. Hecker, B. K. Paap, M. Thamilarasan, D. Koczan, E. Schott, K. Deuschle, J. Bellmann-Strobl, F. Paul, U. K. Zettl, K. Ruprecht, and S. Lehnardt. "Multiple Sclerosis: Modulation of Toll-Like Receptor (Tlr) Expression by Interferon-Beta Includes Upregulation of Tlr7 in Plasmacytoid Dendritic Cells." PLoS One 8, no. 8 (2013): e70626. http://dx.doi.org/10.1371/journal.pone.0070626. Link

Multiple sclerosis (MS) mainly affects women between 20 and 40 years of age. Therefore, the onset of the disease often takes place at a time when patients wish to have children and are planning a family.

Unfortunately, insufficient data are available about the impact of a pregnancy on MS. This applies equally to frequency, severity and treatment of relapses as well as to the long-term course of the disease. So far, pregnancies in MS patients are considered to be a risk. This lack of information leads to strong uncertainties among MS patients and their attending physicians.

Therefore, in the context of a clinical study, we intend to accompany patients before, during and after pregnancy to provide individual counselling and to examine the effects of pregnancy on MS.

Study participation lasts 36 months and includes 12 individual on site visits.

Study Director: Dr. Nadja Borisow (WG Clinical Neuroimmunology, NCRC)

Multiple Sclerosis can cause characteristic changes in the retina of the eye. With so-called optical coherence tomography (OCT) - a well-established technique for diagnosing eye diseases - the structure of the retina can be easily measured. In this observational study, we would like to examine whether, through the use of OCT, a loss of nerve cells and fibers can be demonstrated, and whether over several years measurable changes can be detected which reflect disease activity, disease progression and disease severity in patients with MS. To answer these questions, measurable changes in the retina will be collected and compared with the extent of the patient’s physical disabilities, cognitive limitations, changes in MRI, quality of life, and the concentration of certain substances in the blood. Advantages for study participants include regular clinical examinations and the possibility of follow-up. Participation is open to both male and female multiple sclerosis patients (RRMS, PPMS, SPMS), as well as to healthy subjects aged between 20-69 years. Examinations will take place annually over a ten-year period.

Study Director: Prof. Dr. Friedemann Paul (WG Neuroimmunology, NCRC)

This study focuses on magnetic resonance imaging (MRI) using a 7-Tesla MRI scanner. With this powerful 7T-MRI, it is possible to capture images of the highest spatial resolution without producing any known side effects. This scanner is ideal for imaging the brain and the optic nerve, providing detailed information regarding damage to these important structures of our central nervous system (CNS). The aim of this study is to investigate specific changes in the brain (often referred to as inflammatory foci or lesions) in various inflammatory and non-inflammatory diseases. Another part of the study could explore connections to visual perception, transmission, and processing via the optical conduction systems, thus opening a route towards gaining a better understanding of how such processes coincide with structural changes in the brain.

Principle Investigator: Prof. Dr. med. Friedemann Paul) (head of the Clinical Neuroimmunology group at NCRC)

NMO (also known as Devic's syndrome),is a rare inflammatory autoimmune disease of the central nervous system, which affects almost exclusively the optical nerves and spinal cord. The neuromyelitis optica study group (called NEMOS in the following) is an initiative by doctors from about 25 hospitals all over Germany which has set itself the aim of extending knowledge about the NMO and thereby improving the diagnosis and therapy of patients affected by this disease. In this project it is intended to gather, from the NMO patients who have given their consent to this undertaking, important information on diagnosis, course and treatment in pseudonymized form in a databank. For better understanding of the disease processes in NMO patients we would also like to carry out targeted MRT examinations, tests on cognitive ability and an optical coherence tomography. Participation is open to all patients who have been diagnosed with neuromyelitis optica and/or Devic's syndrome.

Please find further information on the NEMOS Study Group and on neuromyelitis optica here.

Study Director: Prof. Dr. Friedemann Paul (WG Clinical Neuroimmunology, NCRC, ECRC)

Publications:
Borisow, N., I. Kleiter, A. Gahlen, K. Fischer, K. D. Wernecke, F. Pache, K. Ruprecht, J. Havla, M. Krumbholz, T. Kumpfel, O. Aktas, M. Ringelstein, C. Geis, C. Kleinschnitz, A. Berthele, B. Hemmer, K. Angstwurm, R. Weissert, J. P. Stellmann, S. Schuster, M. Stangel, F. Lauda, H. Tumani, C. Mayer, L. Zeltner, U. Ziemann, R. A. Linker, M. Schwab, M. Marziniak, F. Then Bergh, U. Hofstadt-van Oy, O. Neuhaus, A. Winkelmann, W. Marouf, L. Ruckriem, J. Faiss, B. Wildemann, F. Paul, S. Jarius, C. Trebst, K. Hellwig, and Nemos. "Influence of Female Sex and Fertile Age on Neuromyelitis Optica Spectrum Disorders." Mult Scler 23, no. 8 (Jul 2017): 1092-103. Link

Stellmann, J. P., M. Krumbholz, T. Friede, A. Gahlen, N. Borisow, K. Fischer, K. Hellwig, F. Pache, K. Ruprecht, J. Havla, T. Kumpfel, O. Aktas, H. P. Hartung, M. Ringelstein, C. Geis, C. Kleinschnitz, A. Berthele, B. Hemmer, K. Angstwurm, K. L. Young, S. Schuster, M. Stangel, F. Lauda, H. Tumani, C. Mayer, L. Zeltner, U. Ziemann, R. A. Linker, M. Schwab, M. Marziniak, F. Then Bergh, U. Hofstadt-van Oy, O. Neuhaus, U. Zettl, J. Faiss, B. Wildemann, F. Paul, S. Jarius, C. Trebst, I. Kleiter, and Nemos. "Immunotherapies in Neuromyelitis Optica Spectrum Disorder: Efficacy and Predictors of Response." J Neurol Neurosurg Psychiatry  (Jun 01 2017) Link

Susac's syndrome is a rare disease affecting the brain, the retina of the eye and the inner ear. This leads, among other things, to cognitive impairments, personality changes, paralytic symptoms, impaired vision and reductions of hearing. The precise cause of Susac's syndrome is not known. In this research project, the intention is firstly to find biomarkers that enable a reliable diagnosis of Susac's syndrome and differentiation from other, usually much more frequent disease. The second aim is to improve knowledge and understanding of the fundamental harmful processes. A certain diagnosis and a better understanding of the harmful mechanisms are ultimately the key to an effective treatment. Participation is open to all patients in whom Susac's syndrome has been ascertained or supposed.

Study Director: Dr. Jan Dörr (WG Clinical Neuroimmunology, NCRC)

clinicaltrials.gov

Publications:

Jarius, S., I. Kleffner, J. M. Dorr, J. Sastre-Garriga, Z. Illes, E. Eggenberger, C. Chalk, M. Ringelstein, O. Aktas, X. Montalban, K. Fechner, W. Stocker, E. B. Ringelstein, F. Paul, and B. Wildemann. "Clinical, Paraclinical and Serological Findings in Susac Syndrome: An International Multicenter Study." J Neuroinflammation 11 (Mar 08 2014): 46. http://dx.doi.org/10.1186/1742-2094-11-46. Link

Brandt, A. U., H. Zimmermann, F. Kaufhold, J. Promesberger, S. Schippling, D. Finis, O. Aktas, C. Geis, M. Ringelstein, E. B. Ringelstein, H. P. Hartung, F. Paul, I. Kleffner, and J. Dorr. "Patterns of Retinal Damage Facilitate Differential Diagnosis between Susac Syndrome and Ms." PLoS One 7, no. 6 (2012): e38741. http://dx.doi.org/10.1371/journal.pone.0038741. Link

Wuerfel, J., T. Sinnecker, E. B. Ringelstein, S. Jarius, W. Schwindt, T. Niendorf, F. Paul, I. Kleffner, and J. Dorr. "Lesion Morphology at 7 Tesla Mri Differentiates Susac Syndrome from Multiple Sclerosis." Mult Scler 18, no. 11 (Nov 2012): 1592-9. http://dx.doi.org/10.1177/1352458512441270. Link

Dorr, J., S. Krautwald, B. Wildemann, S. Jarius, M. Ringelstein, T. Duning, O. Aktas, E. B. Ringelstein, F. Paul, and I. Kleffner. "Characteristics of Susac Syndrome: A Review of All Reported Cases." Nat Rev Neurol 9, no. 6 (Jun 2013): 307-16. http://dx.doi.org/10.1038/nrneurol.2013.82. Link

For many patients, a stroke is not only a sudden life-threatening condition but can also be accompanied by other serious complications such as pneumonia. Previous research has shown certain factors which can increase the risk of pneumonia in stroke patients. Reduced movement is one such symptom, as are difficulties and disorders in swallowing and an overall weakness of the immune system which occurs in the aftermath of a stroke.  Even though stroke is a common condition and pneumonia is a frequent complication for such patients, as of now there are still no convincing preventive measures for addressing this.

Therefore, in the MUCINS study, we would like to investigate whether self-cleaning of the lungs (mucociliary clearance) after a stroke is somehow blocked or restricted.

Towards this goal, 12 stroke patients and 12 individuals as part of a control group will be examined. For the control group, adults who have a bronchoscopy planned as part of their regular treatment or patient care are eligible for participation.

We would like to use this examination to extract mucosal tissue from the mucous membrane of the nose, trachea and bronchi by means of brushing mucosal tissue so that we can then analyze it in the laboratory.

To better asses the risk of pneumonia after stroke, data from the two groups of patients will be compiled and compared along with results from a blood test and a survey.

With your help and participation, we can improve the care of stroke patients and better address their needs in the future.

The study "Mucociliary Clearance IN Stroke" (MU-CINS) is carried out by the NeuroCure Clinical Research Center (NCRC) and the Center for Stroke Research Berlin (CSB), Charité – University Medicine Berlin (Director and Project Manager: Prof. Dr. Andreas Meisel), and is funded by the German Research Foundation (DFG)

Principal Investigator: Prof. Dr. med. Andreas Meisel (Leitung AG zerebrovaskuläre Erkrankungen, NCRC) (head of the Cerebrovascular Diseases group at NCRC)

The individual prognosis of patients with underlying neurological diseases plays an important role already during the acute therapy on an ICU. Furthermore, prognosis is of major importance for the planning of further treatment options especially for rehabilitation measures. In many patients, typical complications on an ICU like infections or pulmonary embolisms can negatively affect the individual prognosis. Patients with underlying neurological diseases often have a long-lasting disease course over months. Especially in these patients, prognosis is often uncertain. In these patients, the question concerning appropriateness and the goal of intensive medical therapy arises. An early and reliable prediction of the disease course could facilitate treatment decisions. The goal of the ICU cohort study is therefore to evaluate the predictive properties of clinical, immunological, imaging, and other paraclinical parameters for the prediction of long-term outcome in patients treated on a neurological ICU.

Study Director: Prof. Dr. Andreas Meisel (WG Cerebrovascular Diseases, NCRC, CSB, Neurology CCM)

clinicaltrials.gov

If damage occurs in a particular region of the brain, related changes in nerve cell structures can sometimes also be detected in other, more distant regions of the brain. The object of this study is the presentation of a possible involvement of the frontal sections of the visual system (retina) in patients who have suffered a stroke involving the rear sections of the visual system. The examinations carried out here on patients with optical coherence tomography could provide an important contribution to the understanding of the functioning of the visual system. 

This study is oriented primarily towards patients with newly occurred strokes in the basin of the posterior cerebral artery. Participation is also open to patients with circumscribed small "lacunary“ infarcts in other areas of the brain. 

Study Director: Prof. Dr. Friedemann Paul (WG Clinical Neuroimmunology, NCRC, ECRC)

Myasthenia gravis (MG) is a disease that usually stays with a patient for a lifetime. The disease can manifest in numerous ways and comes in differing levels of severity. People living with myasthenia are often forced to accept certain limitations that affect many aspects of their lives, from the work they are capable of, to the way they spend their free time. Our experience in the clinic has made us acutely aware of the difficulties such restrictions can cause for those affected by the illness. For this reason, we have developed the "Questionnaire for the Systematic Recording and Characterization of Quality of Life Limitations in the Context of Myasthenia Gravis (MG)" as a way of assessing the details regarding these ongoing burdens. The questionnaire gives us feedback about which individual factors might be having a positive or negative impact on the lives of those affected by MG. Based on the results of this study, we want to develop long-term treatment possibilities that improve the quality of life for patients living with myasthenia gravis.
 
Principal Investigator: Prof. Dr. med. med. Andreas Meisel (Head of AG Cerebrovascular Diseases, NCRC)

The course and degree of severity of myasthenia gravis (MG) vary greatly from individual to the next. To date there have been no clinical, genetic or immunological markers that permit a prediction of the form the myasthenia will take and thus a prognosis. By means of the myasthenia cohort, prognostic parameters are to be identified that allow the course (ocular, generalized, myasthenic crisis), the response to treatment (pyridostigmine, steroids, immunosuppressants, thymectomy) and the long-term course to be predicted early on. In addition, biomarkers are to be identified which predict disease activity (remissions and/or exacerbation of the disease). Furthermore, new scientific hypotheses and findings are to be investigated on the basis of the study population, which is to be systematically examined for a period of ten years and is expected to be very well defined, both clinically and paraclinically.

Study Director: Prof. Dr. Andreas Meisel (WG Cerebrovascular Diseases, NCRC, CSB, Neurology CCM)

Publication:

Hoffmann, S., J. Ramm, U. Grittner, S. Kohler, J. Siedler, and A. Meisel. "Fatigue in Myasthenia Gravis: Risk Factors and Impact on Quality of Life." Brain Behav 6, no. 10 (Oct 2016): e00538. http://dx.doi.org/10.1002/brb3.538. Link

In spite of different clinical manifestations a number of autoimmune diseases have in common that their pathogenesis is mainly due to the production of autoantibodies and that their long-term therapy is based on corticosteroids and additional immunosuppressive drugs.

However, especially the so called „long-lived“ plasma cells, that produce the autoantibodies and are responsible for disease chronicity due to their ability to persist for many years or even lifelong, are especially resistant to current therapeutic options. Therefore, a cure for these diseases is not possible and the long-term immune suppression that is necessary for disease stabilization often results in a multitude of serious side effects. On the other hand a significant fraction of patients does not sufficiently respond to current therapy. Consequently, new therapeutic options for these diseases are urgently needed.

The proteasome inhibitor Bortezomib that is characterized by a plasma cell specific mechanism has already been licensed for some years for the therapy of multiple myeloma, a malignant plasma cell tumor. The mechanism of action is based on the inhibition of the proteasome which leads to programmed cell death (apoptosis) especially in cell types with a high protein turnover like plasma cells. Recent data in experimental systems show a significant therapeutic effect of Bortezomib also in autoantibody mediated diseases. However, so far this has not been proven in a clinical study in humans.

Therefore, in our study a small number of patients suffering from Myasthenia Gravis (MG), Systemic Lupus Erythematosus (SLE) and Rheumatoid Arthritis (RA), all refractory to current standard therapy, will be treated with Bortezomib (Velcade®). During the study we will analyze the disease specific antibody titers, disease activity, disease related quality of life and a number of other parameters. We hope that based on this study we will be able to offer new therapeutic options for these patients.

This study is jointly headed by Prof. Falk Hiepe (Dept. of Rheumatology, Charité) and Prof. Andreas Meisel (Dept. of Neurology, Charité).

clinicaltrials.gov

Publication:

Kohler, S., M. Losen, T. Alexander, F. Hiepe, and A. Meisel. "Myasthenia Gravis: Subgroup Classifications." Lancet Neurol 15, no. 4 (Apr 2016): 356-7. https://doi.org/10.1016/S1474-4422(16)00033-8. Link

The course and degree of severity of chronic-inflammatory demyelinating polyneuropathy (CIDP) vary greatly among individual cases. Especially in younger patients (approx. 30% of cases), relapse remitting courses can be observed. To date there have been no clinical, genetic or immunological markers that permit prediction of the course of the disease and thus a prognosis of the CIDP. By means of the CIDP Cohort it is intended to identify prognosis parameters can predict the course of the disease, but also the therapeutic response to therapy and the long-term outcome early on. In addition, biomarkers are to be identified that predict the disease activity (remissions and/or exacerbation of the disease). Furthermore, new scientific hypotheses and findings are to be investigated on the basis of the study population, which is to have been systematically examined for a period of ten years and is expected to be very well characterized.

Study Director: Dr. Juliane Klehmet (WG Cerebrovascular Diseases, NCRC, Neurology CCM)

Publication:
Klehmet, J., S. Beutner, S. Hoffmann, M. Dornauer, F. Paul, R. Reilmann, A. U. Brandt, and A. Meisel. "Quantitative Grip Force Assessment of Muscular Weakness in Chronic Inflammatory Demyelinating Polyneuropathy." BMC Neurol 19, no. 1 (Jun 8 2019): 118. https://dx.doi.org/10.1186/s12883-019-1339-x.

The new sequencing techniques will, in a few years, make it possible to sequence the genome of every person for 1,000 US dollars (i.e. to read the succession of 3 billion base pairs). In this, one will inevitably encounter numerous variations, the overwhelming majority of which are benign and only reflect the differences between people. We are continually developing and improving software which we make freely available via the Internet and which makes it possible for doctors and researchers to analyze these genetic variations automatically and to distinguish between benign and pathological changes. This simplifies the search for "a needle in a haystack".

Please find more detailed information here.

The software is available on GeneDistiller and Mutation Taster.

Study Director: Prof. Dr. Markus Schülke-Gerstenfeld (WG Developmental Disorders of the Nervous System, NCRC, Pediatrics CVK)

With this study we would like to identify genes with mutations that lead to a disease pattern in which the children are already akinetic in the womb and are therefore born with stiff joints. To achieve this, we are ascertaining the base sequences of genes that play a role in the development of the muscular and nervous system.

Study Director: Prof. Dr. M. Schülke-Gerstenfeld (WG Developmental Disorders of the Nervous System, NCRC, Pediatrics CVK)

This study is devoted to explaining the genetic causes of West syndrome, a severe form of epilepsy that occurs in infancy and early childhood. The investigation consists of genetic mapping and gene sequencing in affected patients and their families. With these investigations, we hope to uncover the causes that will in future enable a causal therapy.

Study Director: Prof. Dr. Markus Schülke-Gerstenfeld (WG Developmental Disorders of the Nervous System, NCRC, Pediatrics CVK)

ClinicalTrials.gov

Three to five percent of all people have a febrile seizure at least once in their lives. Despite the frequency of this disease, the pathophysiological and genetic causes are still unexplained. Based upon investigations on an animal model, which suggests disrupted respiratory regulation as a possible cause, we are conducting a clinical study in which we are testing this hypothesis on humans. In the study, children are continually monitored during the night after a febrile seizure, as regards their breathing rate, body temperature, oxygen saturation and carbon dioxide partial pressure. Children who have fever but have not suffered a febrile seizure serve as a control group.

Study Director: Prof. Dr. M. Schülke-Gerstenfeld (WG Developmental Disorders of the Nervous System, NCRC, Pediatrics CVK)

ClinicalTrials.gov