Country: Germany

In this edition of “Meet the members”, we interview Lena Zeltner from Centre for Rare Neurological Diseases, Tübingen (ZSNE), Universitäts Klinikum Tübingen, Germany . She will tell us a bit more about her work and the importance of diagnosing a rare disease.

I am a physician specialised in neurology and I´m working at the centre of rare diseases in Tübingen (ZSE). Every day I deal with enquiries from doctors and patients with suspected  rare diseases. These patients are always discussed in interdisciplinary case conferences involving human genetic physicians. If we suspect a rare disease, we see these patients in our interdisciplinary consultation hour for unknown diagnoses and then often initiate further diagnostic, for example, exome diagnostic.

One of our patients was a 20 year old woman. Her early childhood development was delayed; later her main problems were abnormal social behaviour and episodic agitation.

She was diagnosed with Asperger-Syndrome and a reduced intelligent quotient. Her parents did really suffer from the situation because they could not see a reason for their daughter’s problematic behaviour and they assumed miseducation as causative. Due to exome-based genetic diagnostic we could diagnose a rare genetic neurodevelopmental disorder characterized by delayed psychomotor development and autism or autistic features. Knowing the reason of their daughter’s problems was a real relief for the parents, although no specific therapy exists.

This case shows the importance of diagnosing rare diseases because the described case had no therapeutic consequences but major social consequences and as a result improved disease handling.

You are an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

In this edition of “Meet the members”, we interview Samuel Gröschel, child neurologist at the University Children’s Hospital in Tübingen, Germany and one of the coordinators of the ERN-RND Leukodystrophies Disease Group (DG). He will tell us a bit more about his work in the hospital, within ERN-RND and his expectations for the network.

1.What is your profession (department, affiliation, etc.) and your medical expertise or specific field of interest/why?

I am a child neurologist, working in the University Children’s Hospital in Tübingen, Germany. My area of expertise is in rare neurological disorders in childhood, especially in leukodystrophies. I’ve started my interest in leukodystrophies already during medical school in Göttingen, continuing in London at Great Ormond Street and now have been conducting this work in Tübingen, with a focus on Metachromatic Leukodystrophy.

2. What do you like most about your work/biggest challenge specially in regards to working on rare diseases?

It is a privilege to witness an era of new developments for treatment of rare neurological diseases in childhood. As a clinician, I see my contribution in research for trial readiness, describing the natural history, establishing meaningful outcome parameters and biomarkers as well as building disease databases. In my view, exchanging expert knowledge and working in networks is crucial for this development.

3. How do you participate in ERN-RND?

I am coordinating the disease group “leukodystrophies” in the ERN-RND, together with Dr Caroline Sevin, where we develop and exchange clinical standards for leukodystrophies. In addition, ERN-RND provides a valuable IT platform for secure discussions of clinical cases, where I participate as a leukodystrophy expert.

4. What are your expectations for the network?

By facilitating access to specialised expert knowledge and exchange between expert centers for rare neurological diseases, the ERN-RND network can contribute to improved patient care and clinical research for trial readiness.

5. How do you think patients and clinicians can work together?

On the one hand, ERN-RND can improve patient care and provide families and local physicians with better access to expert centers. On the other hand, we as clinicians often experience that parents of affected children support, motivate and even initiate research for trial readiness, also via patient advocate groups. For me, this productive interaction between clinicians and patients is a big motivation for my work.

You are an ERN-RND full member or affiliated partner and would like to participate? Please contact us.

In this edition of “Meet the members”, we interview Johannes Levin, Professor for clinical neurodegeneration at the Department of Neurology, Ludwig-Maximilians-University Munich,  Deputy leader for clinical research at the German Center for Neurodegenerative Diseases (DZNE), site Munich and Chief Medical Officer at MODAG GmbH. He speaks about the biggest challenge specially in regards to working on rare diseases and his expectations for the network.

1. What is your profession and your medical expertise or specific field of interest/why?

I work as professor for Clinical Neurodegeneration at the Department of Neurology, Ludwig-Maximilians-University Munich and I am deputy leader for clinical research at the German Center for Neurodegenerative Diseases (DZNE), site Munich.

I have been working in the field of neurodegeneration for 20 years focusing clinically on movement disorders and genetic forms of dementia.

My principal research focus is the molecular pathogenesis of neurodegenerative diseases with emphasis on protein aggregation, biomarker development for neurodegenerative diseases and therapy development targeting protein aggregation.

I have a proven track record for coordinating academic research studies and I am principal investigator of the largest interventional trial in Multiple System Atrophy in Germany involving 92 patients at 12 centers (PROMESA trial) with long standing experience in conducting industry sponsored trials.

Moreover I am principal investigator in several national studies and in international cohort studies such as the Dominantly Inherited Alzheimer’s Network (DIAN) and the Genetic Fronto-temporal dementia Initiative (GENFI).​

Based on this background I joined MODAG GmbH as part-time CMO where the academic work on the oligomer modulator anle138b is continued in an industry setting, where the compound is currently at early stages of clinical development.

2. What do you like most about your work and what is the biggest challenge specially in regards to working on rare diseases?

I really like the need for collaboration in working on rare diseases. The highest burden I see is the administrative hurdles for collaboration and especially for interventional trials.

 3. How do you participate in ERN-RND? Can you tell us about your experience presenting a case via the CPMS?

I am member of the FTD disease group and one of the coordinators of the atypical Parkinson disease group.

 4. What are your expectations for the network?

Foster collaboration between centers and countries to improve patient care. For example, we currently work on guidelines to harmonize treatment of patients with atypical parksinonism.

 5. How do you think patients and clinicians can work together/why do you think it is important?

In the atypical Parkinson disease spectrum there is a good connection between patients and scientists really improving science by direct contributions and by helping to identify relevant research questions.

 6. What would you wish in terms of educational activities or materials to be offered from ERN-RND, targeting clinicians as yourself?

Support in improving and harmonizing diagnosis and care for patients with rare neurodegenerative diseases, for example via providing training and materials such as case discussions or clean, short tables, flowcharts and SOPs.

Is there anything else you would like to say?

I hope ERN-RND continues to grow.

Are you an ERN-RND full member or affiliated partner and would like to participate? Please contact us.