Survey on mitochondrial diseases management in Europe
Recently, several European Reference Networks for rare or low prevalence diseases (ERNs) decided to join forces. They created a joint work group dedicated to mitochondrial diseases, built by experts on Rare Neurological Diseases (ERN RND), Neuromuscular Diseases (ERN EURO-NMD), Rare and Complex Epilepsies (EpiCARE), Eye Diseases (ERN-EYE), Hereditary Metabolic Disorders (MetabERN), and by patient representatives.
Today, these experts call on you and your experience from everyday clinics, to get a clear picture on how mitochondrial diseases are managed throughout Europe. Please do help us get a maximum of input from clinicians, by answering the survey and do not hesitate to share the survey with your colleagues.
Answering the survey will take no more than 10 minutes. Your contribution is precious as the action of the experts towards harmonisation of mitochondrial diseases management in Europe will be based on your answers.
Survey on: Inventory of current practices regarding HSCT in metachromatic leukodystrophy in Europe and neighboring countries
MLD is a rare neurometabolic disorder and sometimes treatment withhematopoietic stem cell transplantation(HSCT) is beneficial. This inventory is a joint effort from the MLD initiative and the ERN-RND. As a first step towards harmonization and improvement of (cross-border) MLD care, we would like to explore the current practices regarding HSCT in MLD in different countries in the European Union and neighboring countries.
Completing the survey will take approximately15 minutes. Saving a draft and continuing later is possible. You may also receive an invitation through other channels. Please note, that you only need to fill out the survey once. May we ask you to fill in the survey before March 31st?
Who should participate?
All physicians involved in care for MLD patients, including transplant specialists, (child) neurologists and metabolic physicians.
Why should you participate?
Your contribution helps to gain insight in the differences in stem cell transplantation for MLD among different countries. This is important for optimizing care for patients with MLD in Europe.
If you have any comments or useful information that could be added, please contact us.
ERN-RND Patient Journey
Patient Journeys
Patient Journeys are info-graphical overviews that visualize patients’ needs in the care of their rare disease. Because Patient Journeys are designed from the patient’s perspective, they allow clinicians to effectively address the needs of rare disease patients.
ERN-RND provides so far the following Patient Journeys:
ERN-RND provides free educational webinars on rare neurological and neuromuscular diseases - in collaboration with the European Reference Network for Rare Neuromuscular Diseases (EURO-NMD) and the European Academy of Neurology (EAN). The goal is to share knowledge on rare neurological, movement and neuromuscular disorders via a series of webinars presented by expert members of both networks.
09.05.2023, 3-4 pm CET| ‘Non-pharmacological approaches to treatment in svPPA’ by Ana Sofia Costa, RWTH-University Hospital Aachen, Germany. SIGN UP here
23.05.2023, 3-4 pm CET| ‘Frontotemporal dementia vs. primary psychiatric disorders’ by Tim van Langenhove, University Hospital Ghent, Belgium. SIGN UP here
20.06.2023, 3-4 pm CET| ‘Haematopoietic Stem Cell Transplantion in Leukodystrophies’ by Jörn-Sven Kühl, University Hospital Leipzig, Germany. SIGN UP here
27.06.2023, 3-4 pm CET| ‘Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities’ by Sarah Tabrizi, UCL Queen Square Institute of Neurology, London, UK. SIGN UP here
The 4th ERN-RND Winter School this year is dedicated to neuroimaging in patients with symptoms of a rare neurodegenerative /genetic disorder.
The goal of this winter school is to learn the typical neuroimaging signs of selected rare neurodegenerative disorders and to elaborate with the participants a practical approach to apply neuroimaging in clinical practice. The winter school in 2023 will address basic technological and methodological aspects of neuroimaging techniques and their application to the diagnostic work up and management of rare neurodegenerative diseases’ patients.
When registering you can also opt for submitting a case, which can be discussed with the experts during the event.
In cooperation with the MLD initiative, ERN-RND established a standard pathway for consulting an international MLD expert panel whenever possible benefits of treatment with hematopoietic stem cell transplantation or gene therapy are not straightforward for a patient with confirmed MLD diagnosis. Upon submission of an eligible case, the treatment eligibility panel is convened on an ad hoc basis, organized and supported by the ERN-RND CPMS helpdesk.
We encourage all physicians in Europe to discuss the possible benefits of treatment options for difficult cases with this MLD expert panel.
You would like to discuss one of your patients with the panel?
If you missed our information & training sessions on CPMS and Case Discussions in ERN-RND so far, or would like to refresh your memory on how to use CPMS, we invite you to join our next training session on:
All clinicians from ERN-RND member hospitals are welcome; the content of the session is identical to previous trainings last year.
Additionally, feel free to contact usany time for an individual training session and for answering your questions related to CPMS & ERN-RND’s Case Discussions!
You do not have a CPMS account yet? Check our website to find out more about how to use CPMS on our website.
Online case discussions jour fixe
The regular Online Case Discussions are open to all clinicians from the ERN-RND network.
You would like to present a case to the discussion? All cases (unsolved and solved/disease management) are welcome.
In 2023 all HCPs have to submit their data to the Registry.
The ERN-RND Registry is collecting relevant core patient information covering children and adults based on the Minimal Data Set defined by the EU Rare Disease Platform . Pseudonymized datasets containing data of all ERN-RND patients seen at a HCP during one year will be uploaded in a REDCap database on the protected server system of the University Hospital Tübingen cloud.
With the ERN-RND Registry it is possible
to get information on how many patients per Disease Group covered by ERN-RND are seen in ERN-RND
to improve the medical care of patients in particular with regard to diagnosis and standards of care
to facilitate participation of patients with the rare neurological diseases in clinical trials and studies
To achieve these goals, it is essential that all HCPs submit their data to the Registry on annual basis. The Registry Office provides a template for the data upload to make it as easy as possible. The template together with a minimal data dictionary was sent to all HCPs in January 2023.
Applications for data access will be dealt with by the ERN-RND Registry Data Access Committee.
If you need help with the Data Sharing Agreement or the data upload, please get in contact with our Registry coordinator Christina Vossler-Wolf:
Deadline for data submission for all patients seen in 2022: 1st of April 2023.
Travel grants to present ERN-RND results at conferences
ERN-RND offers travel grants to present ERN-RND results at conferences. It covers a maximum of 2000 € for travel and accommodation expenses, and will be granted following an application that needs to be approved by the ERN-RND management team.
The event you apply for must take place in the period covered by the actual ERN-RND grant (01 April 2022 – 31 August 2023), retrospective applications are possible.
In case you are interested, please get in contact with Carola Reinhard ().
Events
Summer School for Early Career Researchers focusing on Childhood-onset Disabilities
17-21 July 2023, Poznan, Poland
Summer School for Early Career Researchers focusing on Childhood-onset Disabilities
The EACD Summer School 2023 is a 5-day training course from a Monday morning to Friday afternoon, organized by the European Academy of Childhood Disability together with the Poznan University of Medical Sciences from 17-21 July 2023 in Poznan, Poland.
The 35th European Academy of Childhood Disability (EACD) Annual Meeting
May 24th to 27th 2023. Ljubljana, Slovenia
The motto of this EACD annual meeting is “Smarter Goals for Better Future”, with the intent to emphasize the importance of goal setting in all processes of care in the rehabilitation of children and youth. The program in Ljubljana will be divided into five main thematic modules:
The importance of timely intervention
Advances in the management of orphan diseases
Management of pain in children with developmental disorders and chronic pain syndromes in otherwise normally developing children
Goal setting: active role of the child and parent in (re)habilitation process
Advances in technological support of the rehabilitation process
Preliminary program online!
ERN-RND participates in the pre-conference programme "Pediatric dystonia".
Congress of the Euorpean Paediatric Neurology Society
20-24 June 2023, Prague
We look forward to welcoming you to the magnificent city of Prague where history meets today. You will have the opportunity to learn about the latest developments in the rapidly evolving field of child neurology and network with colleagues and industry partners all focused on delivering the best possible care for children with neurological disorders.
The 9th Annual Congress of the European Academy of Neurology will be held in Budapest, July 1-4, 2023.
The amount of data available in neurology, neuroscience, neurobiology and related disciplines is rising exponentially and our ability to analyse and utilise those data is becoming ever more sophisticated. This will be the topic of the overarching theme of the European Academy’s 2023 annual congress, ‘Neurology Beyond Big Data’, where concepts, recent advances, opportunities and challenges will be discussed.
ERICA WP4 Clinical Trial Support webinar “Designing and conducting clinical trials in rare diseases – what industries expect for partnering with clinical sites”Diego Ardigò, Chiesi Group Parma, Italy
Solve-RD Final Meeting 2023 – Registration now open!
We are happy to invite you all to the Solve-RD Final Meeting 2023!
The meeting will take place from Monday to Wednesday 24-26 April 2023 at the Orea Hotel Pyramida in Prague, CZ and online.
Scientific Meeting – open to all Solve-RD partners & RD researchers
24-25 April 2023 | Fully dedicated to the scientific results Solve-RD achieved and based on submitted abstracts. Solve-RD beneficiaries, associated partners and collaborators but also other interested Rare Disease researchers are invited to attend. Apart from the welcome reception, poster session and meeting dinner the event can be followed online. Register here.
The impact of Solve-RD on research & care of RD patients – public symposium
26 April 2023 | Public symposium “The impact of Solve-RD on research & care of RD patients”: two keynote lectures given by Ines Thiele from the University of Galway and Timothy Yu from Harvard Medical School will be followed by reports on the future of Solve-RD and the patients perspective. Major achievements of Solve-RD will be presented and a round table will discuss the future of rare disease diagnostics in Europe. This event is open to the public and can be attended by all interested parties via a Zoom webinar. All presentations will be given on-site in Prague. Register here.
Once we are made aware of a new publication to which an ERN-RND member has contributed, we post the link to it in the news section of the ERN-RND website here. You can alsoemail us directlyto let us know that you have recently published a research article.
Acknowledgement
Please use one of the sentences below to acknowledge ERN-RND in all publications/presentations/clinical trials etc. (this document can also be found on the Collaborative Platform).
