Current Studies

At present, approximately 50 of our own clinical studies are being carried out at the NeuroCure Clinical Research Center (NCRC ) on neurological and (neuro-)psychiatric diseases.

The studies listed here represent only a selection of the many diagnostic and therapeutic studies offered at the NCRC. In addition to our own studies, we also take part in studies carried out by pharmaceutical companies (e.g. studies on Fingolimod (Novartis), Laquinimod (TEVA Pharma), Copaxone (TEVA Pharma), Masitinib (AB Science), Belimumab (GlaxoSmithKline), IgPro20 (CSL Behring GmbH), register studies (Biomarin) and CFZ533 CD40-Antikörper (Novartis)).

Studies on Multiple Sclerosis (a selection):

COGEMS Study: Neural mechanisms of cognitive and emotional processes in MS and their relevance for disease severity

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.



Dr. Martin Weygandt (Studienleitung)

Katharina Stößlein katharina.stöß (Studynurse)


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)


NAMS Study: Nutritional therapy in multiple sclerosis

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.

Link to a TV report:
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: Liane Franz, Lina Bahr

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

DENIM Study: Depression and multiple sclerosis

Depression commonly occurs in chronic illnesses. Especially patients suffering from illnesses like multiple sclerosis, which are marked by an activation of the immune system, show an increased susceptibility to developing depression. Therefore, a biological cause and effect relationship between these symptoms seem to occur. However, it is widely unknown what kind of biological mechanisms are relevant.

In this clinical study we want to gain a better understanding of the relationship between changes in the immune system and the occurrence of depression in female and male patients suffering from Multiple Sclerosis. In order to do that we are looking for female and male patients diagnosed with relapsing remitting Multiple Sclerosis with and without depression as well as healthy controls.

The study entails a one-time blood draw, a neurological examination as well as a clinical interview to determine the psychological well-being of the patient. No drugs are administered. The study examination takes about 3.5 hours (one morning). Your will receive a compensation for your participation.

Contact: Aline Tänzer

principal investigators: Prof. Dr. Friedemann Paul (working group Clinical Neuroimmunology, NCRC) and Prof. Dr. Stefan Gold (Clinic for Psychiatry, CBF)

For this study no more study participants are required.


CIS Study: Clinically isolated syndrome and newly diagnosed multiple sclerosis: diagnostic, prognostic and therapy-response markers

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)


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. 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. Link

NK Cell Study: Monitoring natural killer cells in multiple sclerosis patients treated with Fingolimod

The aim of this study is to monitor the effect of Fingolimod (Gilenya®) in the treatment of MS on natural killer (NK) cells, a subcohort of blood-derived immune cells. Although Fingolimod/Gilenya® is well established in the treatment of MS it is still not entirely clear how this drug impacts the immune system of MS patients. NK cells are crucial in the inborn immune defense. Additionally, it has recently become clear, that NK cells play an important role in the regulation of the adaptive immune system and in the pathophysiology of autoimmune diseases like MS. Therefore, better understanding of the impact of Fingolimod/Gilenya® on NK cells is important.

Participation in this clinical study is possible for both male and female patients with relapsing-remitting MS, aged 18-65, with a medical indication for treatment with Fingolimod/Gilenya®. Study duration is 12 months for every participant with 6 individual on site visits. Treatment with Fingolimod/Gilenya® will be continued after the study.

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

For this study no more study participants are required.


Database on family planing and pregnancies in multiple sclerosis

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)


VIMS Study: Follow-up examination of visual parameters for the creation of a database (neuro-ophthalmologic register) in patients with multiple sclerosis versus healthy subjects

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)


Studies on Neuromyelitis Optica (NMO):


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)

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



Studies on Susac's Syndrome:

SUSAC Study: Examination of suitable biomarkers in patients with Susac's syndrome and suitable control individuals

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)


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. 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. 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. 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. Link

Studies on Stroke (a selection):

Physical fitness in subacute stroke (PHYS-Stroke)

Given the rising number of strokes worldwide, and the large number of individuals left with disabilities after stroke, novel strategies to reduce disability, increase functions in the motor and the cognitive domains, and improve quality of life are of major importance. Physical activity is a promising intervention to address these challenges but, as yet, there is no study demonstrating definite outcomes. Our objective is to assess whether additional treatment in the form of physical fitness-based training for patients early after stroke will provide benefits in terms of functional outcomes, in particular gait speed and the Barthel Index (co-primary outcome measures) reflecting activities of daily living (ADL). We will gather secondary functional outcomes as well as mechanistic parameters in an exploratory approach. The ultimate goal of this endpoint-blinded, phase III randomised controlled trial is to provide evidence to guide post-stroke physical fitness-based rehabilitation programmes, and to elucidate the mechanisms underlying this intervention.

Study director: Prof. Dr. med. Agnes Flöel (WG Cognitive Neurology, NCRC, Neurology CCM)


ICU Cohort Study: Prognostic markers for patients in a neurological ICU

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)


Pilot study for optic coherence tomography (OCT) in patients with ischemic infarcts in the basin of the posterior cerebral artery

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)


GUTSTROKE – Influence of stroke on the composition of intestinal microbiota

The intestinal flora (intestinal microbiota) creates a microbial metabolic organ comprised of 1013 to 1014 microorganisms, with a genome (microbiome) 100 times larger than the human one. The metabolic capacity of intestinal microbiota is comparable to the human liver. Recently, a bidirectional communication axis between brain and the gut microbiota was described and suggested to be an important player in the development and course of several diseases of the nervous system. Changes in the composition of gut microbiota were associated with e.g. autism, depressions, Guillain-Barré syndrome and multiple sclerosis. Additionally, in the last years a link between disturbances of the microbiota composition, atherosclerosis and an increased risk for cardiovascular events was described.

In this study we aim to examine whether the composition of intestinal microbiota changes after stroke and whether the intestinal microbiome of severely affected stroke patients differs from patients with only transient ischemic episodes in the brain (transient ischemic attack, TIA). In addition, we plan to study the immunological parameters in enrolled patients and to assess whether any stroke-associated changes in the gut microbiota are linked to changes in the immune response.

This is a proof of concept, prospective, observational study.

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


Managing Aftercare for Stroke (MAS): MAS-II - A longitudinal, complex, interventional study in post-rehabilitation stroke patients

After discharge from hospital the current healthcare system in Germany allows considerable flexibility (therefore complexity) of patient access and mobility between multiple care providers in the community setting. We believe this aftercare could be better coordinated by a specialized coordinated stroke aftercare service. Comprehensive coordinated multidisciplinary care is a proven concept with proven benefits in both acute and rehabilitation care provided in stroke units and neurorehabilitation centres. In MAS approach we postulate that a similar coordinated approach to care can be extended to the phase after in-patient rehabilitation has ended (i.e. “long-term management” as opposed to “early supported discharge”) for disabled patients with stroke living in the community. In this second step of the MAS project we will assess the feasibility of integrated post-stroke care and estimate it’s effect size on quality of life (phase MAS-II). The ultimate aim of the complete MAS project (MAS I, II & III) is the development of a model of stroke aftercare delivery that can be evaluated to estimate effects in both our local and the wider stroke population.

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

Contact: Dr. Benjamin Hotter



Studies on Myasthenia Gravis (a selection):

MYASTHENIA Cohort: Myasthenia Gravis: diagnostic, prognostic and therapy response markers

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)


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. Link

Therapy of autoantibody-mediated diseases with Bortezomib (TAVAB)

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).


Studies on Chronic Inflammatory Demyelinating Polyneuropathy CIDP (a selection):

CIDP Cohort: Chronically inflammatory demyelinating polyneuropathy: diagnostic, prognostic and therapy response markers

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)


Studies on Developmental Disorders of the Nervous System (e.g. Epilepsy) (a selection):

Development of software for the evaluation of gene variants and pathogenic mutations in humans

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)


Genetic causes of arthrogryposis multiplex congenita

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)


Genetic causes of severe epilepsy in early childhood

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)


The causes of febrile seizure

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)


Studies on Duchenne Muscular Dystrophy:

SUNIMUD Study: Sunphenon EGCg (epigallocatechin gallate) in Duchenne type muscular dystrophy

In this study, which is being carried out in close cooperation with the Social Pediatric Center (SPZ) for Neuropediatrics at the Charité-Campus Virchow Klinikum (CVK) and the Clinic for Child and Adolescent Medicine of the DRK Kliniken Berlin Westend, we are investigating whether the regular taking of the extract of green tea (epigallocatechin gallate, EGCG) positively influences the progression of disability of patients with Duchenne muscular dystrophy. This is a multi-center, randomized, placebo-controlled, double-blind study. Participation is open to male patients from the age of five who have been diagnosed with Duchenne muscular dystrophy. The study medicine is taken twice a day as a capsule.

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

For this study no more study participants are required.


Studies on Mild Cognitive Impairment (MCI) and Alzheimer's Disease (a selection):

SmartAge Study: Effect of polyamine-enriched dietary supplementation on cognitive function in healthy older adults with subjective cognitive decline

Previous findings suggest that special dietary ingredients have a direct effect on function of neurons and on cognitive function. This study, called “SmartAge”, investigates the effect of polyamine-enriched dietary supplementation on cognitive function, especially learning and memory, and on peripheral biomarkers (e.g. blood parameter and vascular processes) in healthy older adults with subjective cognitive decline. Polyamines are essential endogenous products of cell metabolism and the concentration of polyamines decreases with age in humans. This study is a monocentric, randomized, placebo-controlled and double-blind proof-of-concept-study (Flyer).

Cooperation partner: Department of Biology and Genetic, Freie Universität Berlin (Prof. Stephan Sigrist)

Study director: Prof. Dr. Agnes Flöel (AG Kognitive Neurologie, NCRC, CSB, Neurologie CCM)


Schwarz, C., S. Stekovic, M. Wirth, G. Benson, P. Royer, S. J. Sigrist, T. Pieber, C. Dammbrueck, C. Magnes, T. Eisenberg, T. Pendl, J. Bohlken, T. Kobe, F. Madeo, and A. Floel. "Safety and Tolerability of Spermidine Supplementation in Mice and Older Adults with Subjective Cognitive Decline." Aging (Albany NY) 10, no. 1 (Jan 8 2018): 19-33. Link