Country: Spain

In this edition of “Meet the members”, we interview Yaroslau Compta, neurologist at the Hospital Clínic of Barcelona, Spain part of the ERN-RND “Dystonias, NBIA, Paroxysmal Disorders” as well as “Atypical Parkinsonism: MSA, PSP, Genetic Parkinson’s Disease” Disease Groups (DG). He will tell us a bit more about his work in the hospital, within ERN-RND and his expectations for the network.

Please briefly introduce yourself and your hospital.

My name is Yaroslau Compta. I got my MD degree in 2002 and my PhD in 2013 at University of Barcelona. In 2006 I got my Neurology specialization at Hospital Clínic de Barcelona, a university and reference Hospital with a long history and tradition in teaching, care and research.

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

I am a consultant at the Parkinson’s disease and Movement Disorders Unit of the Neurology Service of Hospital Clínic de Barcelona. As such my medical expertise and specific field of interest are movement disorders, which range from frequent conditions (Parkinson’s disease, essential tremor) to rare disease (in my case chiefly dystonias and atypical parkinsonisms). Particularly I work in biomarkers (molecular and imaging) of and clinical trials in progressive supranuclear palsy, corticibasal degeneration and multiple system atrophy. Recently I have also gained interest in health and therapeutic education programs for these conditions working with the advanced practice nurse of our team and other health professionals.

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

What I like most is that it merges clinical work with research and teaching, and especially with regard to rare diseases that there is still a long way to go which allows for contributing to knowledge not only by means of sophisticated methods, but also with careful clinical observation.

3. How do you participate in ERN-RND?

I am part of the groups of dystonia and atypical parkinsonsims.

4. What are your expectations for the network?

That it will imply improved care and also research all across the continent, with shared resources and avenues for collaboration, from registries to clinical trials, as well as teaching to junior staff and also networking with other specialists, general practitioners, advanced practice nurses, geriatricians, and other health professionals.

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

Designing not only better care (from thinking about how refurbishing facilities to how organizing clinics, particularly interdisciplinary ones) but also research: topics of interest (from studies on pathophysiology and pharmacological clinical trials to most-needed studies on non-pharmacological approaches and therapeutic education programs, as well as care in the community, outside the university hospital settings, particularly in end-stage disease).

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 Belén Perez Dueñas, pediatric neurologist at Hospital Vall d’Hebrón in Barcelona, Spain. She will tell us a bit more about her work in the hospital, within ERN-RND and her 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 scientist and pediatric neurologist at Hospital Vall d’Hebrón in Barcelona. At the Pediatric Neurology Department, we are a national-leading group committed to provide the best care to children with complex neurological conditions, and to apply research and innovation to clinical healthcare.

I have been a pediatric neurologist since 2006. From the beginning, I was interested in rare metabolic and genetic conditions causing developmental delay, neurological deterioration and complex motor disorders. I have led several multi-center projects on inborn errors of metabolism, vitamin sensitive encephalopathies, neurodegeneration with brain iron accumulation disorders, mitochondrial disorders and genetic dystonia. In recent years, I have set up a Pediatric Neuromodulation Unit for the treatment of children with movement disorders. Our knowledge on metabolic and genetic conditions causing different types of dystonia, combined with our experience with deep brain stimulation, has allowed us to identify and operate best candidates from all over the country, achieving good results on efficacy, safety, and quality of life.

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

My goals as a scientist and pediatric neurologist dealing with rare conditions are to provide an accurate diagnosis, avoid isolation to patients and families, and offer the best personalized therapeutic interventions. The best way to achieve these results is to combine clinical and research work, and to collaborate with other professionals in the same objectives at national and international networks.

3. How do you participate in ERN-RND?

Together with Tobias Bäumer and Giovanna Zorzi, we coordinate the Group on Dystonia, Paroxysmal Disorders and Neurodegeneration with Brain Iron Accumulation Disorders.

4. What are your expectations for the network?

To share our knowledge on childhood onset rare neurological diseases, and to collaborate in best clinical practice guidelines, patients’ registries, educational activities and European research projects on this field.

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

Any research model in rare genetic diseases should include the collaboration with patient associations. Children with movement disorders are affected by severe language, motor and neuropsychiatric problems that may cause severe disability. Therefore, families are highly motivated to improve their children’s health care and to support research actions. In our country, we have contributed to the identification of a high number of children with rare neurological conditions through collaborative research projects with Patients Advocacy Associations. Also, we have organized mixed family and professional meetings to empower patients and reduce isolation, and to disseminate clinical and research activities.

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 Juan Darío Ortigoza-Escobar, a paediatric neurology consultant who leads the Movement Disorders Unit at the Paediatric Neurology Department of the Sant Joan de Déu Hospital in Barcelona, Spain. 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?

I am a paediatric neurology consultant who leads the Movement Disorders Unit at the Paediatric Neurology Department of the Sant Joan de Déu Hospital in Barcelona, Spain. I specialize in movement disorders as well as the treatments for these disorders (deep brain stimulation, baclofen intrathecal pump, etc.). In addition, I am very interested in mitochondrial disorders and genetic disorders. In paediatric movement disorders, understanding the pathophysiological basis of the diseases as well as the clinical symptoms of each patient is critical. This will allow us to provide patients with the most individualized care possible.

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

What I enjoy most about my job is the opportunity to help children. Each patient with a rare condition is unique: from the moment I meet them until I diagnose them, including the fortunate circumstances where I am able to provide any kind of treatment for their condition. Every small improvement in these patients can be a huge win.

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

I am coordinator of the Chorea and Huntington Disease Group, as well as the Working Group for the Paediatric Issues Group. I am also a member of the Dystonia, NBIA, and Paroxysmal Disorders Group. During this time, I have developed the “Diagnosis algorithm for childhood-onset chorea” within the Chorea and Huntington disease group and I have presented it in a webinar.

I am now leading the creation of a “Diagnosis and treatment of NKX2-1-related disorder: ERN-RND clinical practice guideline” along with four other ERNs: Endo-ERN, ERN-Lung, ERN-GENTURIS, and EURACAN. This will be a very important initiative, since it is one of the first clinical practice guidelines developed by the ERN-RND. Additionally, in the paediatric group, I am studying the use of movement disorder rating scales among the ERN-RND neuropaediatricians.

In CPMS, I have contributed on both sides, first as an expert and also by presenting a clinical case. I have already used the previous CPMS, and the new one is more “user-friendly”. Preparing a clinical case for the current CPMS takes about the same amount of time as for other types of meetings. The participation of the assistants during the presentation is usually excellent since they ask many pertinent questions regarding the clinical case.

4. What are your expectations for the network?

It is extremely useful for everyone to be joined together in this ERN-RND with a common interest in rare neurological diseases. I hope the ERN-RND will continue to grow like it has in the past, adding more members from other countries, that collaboration evolves and that additional projects will be produced. In the ERN-RND, I have met many colleagues and we have started many joint projects. Through the webinars it provides, the ERN-RND also plays an important role in continuing to educate physicians about the diagnosis and treatment of rare neurological diseases.

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

The ERN-RND is a great example of collaboration between patients and medical organizations. The patient advocates in the ERN-RND are highly active, attend a lot of meetings, and always offer a fascinating point of view from the patient’s perspective. I believe that ERN-RND will benefit patients in the future through projects such as clinical practice guidelines and discussions of complex cases in the CPMS.

6. Is there anything you would like to add?

Finally, I would want to acknowledge and thank the coordinators and the coordination office of the ERN-RND for all of their efforts and hard work to ensure that projects continue to move as smoothly as they have.

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