Networking Support Scheme : Funded Networking Events

Abstract
Metachromatic Leukodystrophy (MLD) experts from the MLD initiative (MLDi) and the European MLD guideline working group organize a face-to-face meeting to accelerate MLDi registry-based studies and guideline development. It will be a two-day meeting in September 2023 in Amsterdam. With emerging new treatments, new clinical, research and regulatory questions arise. Studies based on the MLDi registry can help answering those questions. A clinical guideline is necessary to reach consensus on the best disease management. The above-mentioned groups of experts regularly meet digitally. A face-to-face meeting with dedicated time to work together will be beneficial for speeding up the projects. In the meeting we aim to reach consensus on the remaining open issues in the clinical guideline. Besides that, designs and project plans for MLDi-registrybased studies will be established

Abstract
The inherited disorders of metabolism alkaptonuria (AKU) and hereditary tyrosinaemia type-1 (HT-1) are devastating conditions. AKU is a slowly progressive disease that leads to a crippling disability and chronic pain. Untreated, HT-1 is a fatal disease that causes liver failure and kidney problems. AKU affects an estimated one in every 250,000 people, while HT-1 is estimated to affect one in every 100,000 people. These conditions are treated with a drug called nitisinone, which has had a life-changing impact on both patient groups. Nitisinone treatment, although highly effective, leads to a condition known as hypertyrosinaemia which can cause blindness, severe skin rashes, and brain damage in children if a strictly controlled diet is not followed.

This conference will have a highly specialised focus on treating nitisinoneinduced hypertyrosinaemia in AKU and HT-1. Together, the AKU and HT-1 patient groups will unite their respective scientific communities to share their research into hypertyrosinaemia and plan and coordinate scientific studies into developing potential treatments.

This event will be hosted in Slovakia by the AKU and HT-1 patient groups. Slovakia is a world-leading hub for research into these conditions, while it also has a significantly higher AKU prevalence, with one in every 19,000 people being affected by the condition, making the aims of this event particularly relevant to AKU patients and researchers in Slovakia.

Abstract
Primary sclerosing cholangitis (PSC) is a rare and complex disease of the bile ducts that can lead to liver failure. There is no effective medical treatment for PSC, and liver transplantation is the only life-saving treatment option for some patients. Most people with PSC also have another disease called inflammatory bowel disease (IBD). We don’t know why, but IBD disease activity (such as the parts of the colon affected and severity) is different in people with PSC compared to those without PSC, so much so that it is referred to as PSC-IBD.

Sadly, people with PSC-IBD have a higher risk of colorectal cancer (CRC) than not only the general population but also people who have IBD alone. We cannot predict who will get CRC, or exactly how PSC-IBD affects PSC and vice versa, particularly after liver transplantation and colon surgery. This means that every year, all patients with PSC-IBD must have an invasive procedure called colonoscopy to check for signs of cancer.

We will bring in Padova, in 2023, experts together from many disciplines (including patients) to find the best way to understand the relationship between PSC-IBD and PSC, identify who is at highest risk of CRC and the best treatments for PSC-IBD. This knowledge will help us develop a personalised treatment and cancer screening programme where the lowest risk PSC-IBD patients will have fewer colonoscopies and the highest risk will have them more often. This will provide reassurance for PSC-IBD patients that they are being screened effectively and will lead to more efficient use of resources on healthcare systems.

Abstract
A congenital disease is for life. Even though most congenital diseases are not life threatening, the patient is born with it and dies with it. Posterior hypospadias is a male-exclusive congenital disease in which the tube to pass urine from the bladder to outside (urethra) is insufficiently developed in the penis. Therefore, the opening or meatus, which is normally at the end of the penis, now lies at the base of the penis or even in or underneath the scrotum. Posterior hypospadias can have a large impact on life. Consequences include dissatisfaction about appearance, spraying of the urinary stream, inability to urinate in standing position, and a bent penis in erection.

A multidisciplinary group of specialists, including patient representatives, will meet in this network event to explore what is needed for better counselling and better treatment for hypospadias patients. Surgery for hypospadias remains challenging and no single technique is applicable to all patients. Patients frequently require reoperations. Although transition care from children into adulthood is recommended, follow up of hypospadias patients is lost due to decentralized paediatric and adult health care.

This workshop is aimed to identify what is currently missing in the lifelong treatment of posterior hypospadias, to improve care, quality of life and awareness for these patients. By bringing together clinicians, basic scientists and other specialists in a think tank we expect innovative solutions that will not only help posterior hypospadias but also other urethral diseases.

Abstract
First Paneuropean Network event on holistic care for Hirschsprung Disease and Total Colonic Agangliosis, a joint collaboration between Poland, UK, Italy, Austria and Germany, taking place in Warnemünde at the Rostock Colorectal Center. Hirschsprung Disease (HSCR) is a rare disease affecting the capability to pass stool and results in obstruction of the bowel. Babies may present in the neonatal period with nonspecific symptoms, but also later in childhood. This condition can be life threatening if not treated, and there are ongoing effects of the condition that continue, even after corrective surgery. Furthermore it is crucial to arrange good follow up to adult service (transition) once the child becomes an adult.

To provide the best possible outcome, a lifelong dedicated treatment by a multidisciplinary team is needed. Bowel continence and constipation may persist despite optimal surgical management, in such patients, daily bowel management and surrounding support can enable social continence and mitigate the associated impact on quality of life. Patient Associations and Parent Support Groups can play a crucial role to support families and work together with clinicians. As HSCR is a rare disease, holistic pathways of care and clinical support would enable care providers to offer the best treatment possible to patients.

Abstract
Under the title « Balancing life with OI” we aim to organize a topical meeting about pain in osteogenesis imperfecta (OI) in relation to its effect on QOL determinants such as fatigue, sleep, work/life balance, health and family relationships. The meeting will take place in Stockholm, Sweden from June 9 to 10th 2023. We expect ca 150 participants from Europe and beyond. The programme will consist of a mix of longer talks from invited speakers, shorter talks based on abstracts, workshops, panel discussions and poster presentations.

Lack of understanding and poor management of pain in the OI field is severely impacting the QOL of OI patients. Addressing this gap is the rationale for this networking event aiming for the first time to bring together all stakeholders on this subject. The meeting will offer arenas to present state of the art research, treatment methods and very importantly the patient perspective.

Our goal is to create new networks between researchers and clinicians to optimally fulfill patient needs. We believe that multidisciplinary attendance from the OI-community will accurately help to identify the most important shortcomings in the pain OI field which will stimulate research towards innovative solutions.

This is the first time that an international conference will be organized exclusively on the topic of pain in OI. We believe that the event is highly feasible considering that OIFE already has experience with successfully organizing 4 topical meetings in addition to other larger OI-related events.

Abstract
Congenital Disorders of Glycosylation (CDG) are a group of >160 different rare inborn errors of metabolism. Individuals present with extremely variable and complex clinical symptoms including, but not limited to, developmental delay, multi-organ involvement, neurologic symptoms and dysmorphic features. This makes diagnosis of CDG very difficult.

Over the past 2 decades, members of the EUROGLYCAN network have established considerable clinical and fundamental research expertise on CDG. Effective multidisciplinary collaboration and communication is critical to further our understanding of CDG and, eventually, develop new therapies.

We wish to organize a networking meeting in Prague, Czech Republic in June 2023. The specific goals are:

1. i) Ensuring the continuation of long-standing collaborations while at the same time, integrating new research teams into EUROGLYCAN.
2. ii) Promoting the creation of clinical reference centres in more countries and integrate their clinicians into the working group on CDG of MetabERN.

iii) Strengthening the collaboration between the CDG patient advocacy organisations and EUROGLYCAN’s clinical and research network.

1. iv) Preparing A New Generation of experts in CDG research and clinics.

This will be the first meeting of a fledgling group of PhD students and postdocs: ‘Young CDG’. The initiative will allow these young researchers to organize training courses, help PAOs and clinicians to raise awareness of CDG both inside and outside the academic community, and to join forces with WCDGO for the organization of the 2025 World CDG conference.

Abstract
Epidermolysis bullosa (EB) is group of rare genetic skin fragility conditions characterized by blistering, wounds, and dependent on the type of EB scarring, deformities, mucosal and extracutaneous involvement with currently no approved treatment available to patients in daily practice. Treatment is now aimed at wound care and symptomatic treatment (pain, itch, infection, etc). Today there are many difficulties in developing treatments for EB. We proposed to bring stakeholders together to discuss and address the challenges faced in developing treatments for EB. Two of the biggest challenges are the lack of harmonisation of outcomes to evaluate the different studies that are being realized in EB and the lack of access to centralised registries to make EB treatment development more efficient. We aim to organize the first international consensus workshop to focus on these key challenges to connect and unite the stakeholders involved in EB research, including EB experts, clinicians, trialists, patient representatives, pharmaceutical companies, funding agencies and regulatory agencies. The results will be creating important relationships between stakeholder to overcome these obstacles and the publication of recommendations from the stakeholders that DEBRA International can use in advocacy to overcome these challenges.

Abstract
VASCERN is the ERN on Rare Multisystemic Vascular Diseases. VASCA is one of the 6 working groups of VASCERN, dedicated to the treatment of patients with vascular anomalies. Vascular anomalies are a large group of vessel diseases characterized by an abnormal vessel formation. VASCA is formed by 14 expertise centers, as well as 3 recently identified potential centers from underrepresented countries (Poland, Rumania, Czech Republic). Each expertise center has an extensive multidisciplinary team of Surgery, Interventional Radiology, Internal Medicine, Dermatology and Genetics. Depending on the type of the vascular anomaly, a different treatment is used, including laser, medical treatment, sclerotherapy, embolization and surgical resections. These treatments are often sequential and can take years to complete, so there is an urgent need for developing new therapeutic options for patients. In this regard, collaboration between experts from different disciplines is key to improve patient care.

Therefore, VASCA wants to organize a two-day face-to-face meeting in Brussels at the end of August 2023. In contrast to the previous meetings of VASCA, that took place within VASCERN, this event would allow the presence a higher number of participants, including different disciplines from the different centers. Also, a greater presence of patient representatives, allowing exchange of ideas and targeting of areas for care improvement. This would favor closer collaborations, knowledge exchange and the possibility to start research projects at the level of the different specialties.

Abstract
Susac syndrome (SuS) is a rare autoimmune disease affecting the brain, retina, and inner ear resulting in a diversity of symptoms including cognitive impairments, visual and hearing loss. Diagnosis SuS is hampered by the heterogeneity of symptoms in early disease stages and lack of awareness among clinicians. Due to lack of clinical trials and high-quality longitudinal data from patient registries treatment paradigms are only based on expert opinions. Therefore, we will bring together a dedicated group of established scientists and clinical experts as well as young investigators.

We aim to establish an international research community to improve our understanding of SuS for the patients’ benefit. Our objectives are to exchange current knowledge and address knowledge gaps on

(i) causes and pathophysiology of the disease,

(ii) improvement of diagnosis and prognosis, and

(iii) treatment options.

This event will serve as a starting point to set up an international SuS consortium (I-SuSaC), thereby laying the groundwork for future scientific collaborations and joint applications. This meeting will result in a consensus agreement on harmonization of a clinical data repository combined with standardized sample processing for a joined SuS biobank. The voice of the patients will be represented by a patient report and a representative from RaDiOrg (https://radiorg.be) as so far there is no official patient organization dedicated to SuS. To guarantee excellent interaction, we plan to organize a face-to-face meeting on June 15th and 16th 2023 at the University Hospital of Münster, Germany.

Abstract
In the field of rare diseases the perfect harmony of research is driven by and for patients. For this purpose, we organize a combined face-to-face patient and research conference: the first European Loeys-Dietz syndrome patient and research networking conference. On day 1, 24th of June 2023, we will focus on education of patients and health care professionals. The format consists of lectures by key experts in the different medical aspects of Loeys-Dietz syndrome and break out sessions on specific patient focussed issues. In these small and low barrier groups, patients and experts can ask questions and exchange freely on the topics that worry them in daily life. These include aortic surgery, LDS in children, pregnancy, exercise, nutritional issues and psychosocial challenges and coping strategies. On the second day, 25th of June 2023, we will set the research agenda for next decade on the Loeys-Dietz syndrome. This scientific meeting where state-of-the-art research will be shared in a world café format. Six parallel working groups will focus on specific research domains by sharing expertise, defining current insights and identifying knowledge gaps. By unravelling the exact pathomechanisms, sharing clinical data we aim at finding better treatment strategies and management for LDS patients. To be easy accessible to both patients and scientists the conference will be held at Grauwzusters and Hof Van Liere in Antwerp. A perfect meeting space within our University of Antwerp which can be easily reached public transport (nearby Antwerp Central Station) and, if necessary, by car.

Abstract
Chronic myeloid leukemia (CML) is a hematological cancer that has become a chronic disease for most patients thanks to the current treatments Tyrosine Kinase Inhibitors-TKIs. Around 65% of patients on TKIs achieve a deep remission of MR4. After years of MR4, patients can try what it is called Treatment Free Remission-TFR, in which no further therapy is required. About 50% of patients relapse after stopping therapy, so successful TFR is only feasible for one third of patients, all others need to be treated life-long. There are still unmet needs, either related to access to therapies and monitoring, or to the side effects burden of a life-long therapy. Hence, finding a cure for CML has become one of the strategic priorities of the CML Community Advisory Board, a working group of the CML Advocates Network, the global network of CML patient groups in 93 countries.

The CML Advocates will hold a meeting that brings together world-leading patient advocates, researchers, and clinicians to jointly explore the barriers and opportunities of research towards new pathways to cure CML. The global patient community will get to expose their current needs and the scientific community will show their current advances. This meeting may be the building block to initiate a “Research Network for CML cure” to help create a joint strategy and milestones to coordinate and fund research towards a CML cure. The face-to-face meeting will encourage new research collaborations, patient involvement in cutting edge science, and a cooperation platform between the patient and scientific CML community.

Abstract
The international research summit on cerebral venous thrombosis is a smallscale research meeting. Cerebral venous thrombosis (CVT) is a rare type of stroke. CVT is caused by a blockage of a vein (a sinus) in the brain. Veins are blood vessels that drain oxygen-poor blood from the organs to the heart and lungs. Because of the blockage of the vein in the brain, the drainage of blood  is disturbed. CVT mostly affects patients aged 20 to 50 years. A severe headache is the most common – and usually first – complaint. In addition, CVT can also cause loss of bodily functions (such as paralysis of an arm and/or leg or speech difficulties) and epileptic seizures. Further research is necessary to better diagnose and treat patients with CVT.

During the two-day international research summit on cerebral venous thrombosis 2023, a group of around 40 experts in the field, together with patients and funding organizations, will discuss where research on CVT should focus on in the coming decade. This will lead to a research agenda that will unite those involved in CVT research from all over the world.

The research summit will take place in Amsterdam (The Netherlands) on June 1-2, 2023 and will consist of multiple sessions in which different themes, such as diagnostic tests or treatment, will be addressed. These sessions will lead to concrete research plans, which then form the research agenda. We also aim to include patients with CVT and media to strengthen the public support of the research agenda.

Abstract
In 2021, an EJP RD European Reference Network (ERN) training workshop was held to introduce the Advisory Committee for Therapeutics (ACT) model to ERNs. An ACT can help to bridge the gap between promising preclinical data and successful clinical trials, by providing independent and objective expert advice to academia and industry. The model has been successfully deployed in the neuromuscular field for over 10 years but it is readily transferable to other rare diseases, which share similar challenges in drug development. Given the large number of rare diseases (6-8000), strategic oversight in developing ACTs would be beneficial. The thematic groupings which the ERNs are based provide a logical framework for establishing ACTs in other rare diseases.

After this workshop, ERN GUARD-Heart (the ERN focussed on rare and complex diseases of the heart), ERN EpiCARE (the ERN focussed on rare and complex epilepsies) and ERN RARE-LIVER (the ERN focussed on rare and complex diseases of the liver) expressed particular interest in developing their own ACTs. This networking event will give these ERNs a forum to take those next steps by assessing the ACT model with key stakeholders in their fields, including patient representatives. It will enable them to create their core committees and develop plans to launch and sustain an ACT, together with pharmaceutical industry representatives (whose support and understanding of the model is crucial, as they will likely be the main users of this service). The objective is that these ERNs will feel empowered to take the next steps to form their ACTs.

Abstract
Chronic non-infectious uveitis of childhood, even though rare, is a severe inflammatory disease that is burdened by sight-threatening complications if not properly recognize and treat. Recently some genetic conditions have been identified as cause of this disease, and a more appropriate treatment has been attempted. The 1st PReS ACADEMY COURSE on Non-Infectious Childhood Chronic Uveitis will be held in Florence (Italy) and will offer access to the latest research, clinical care and treatment related to this disorder. Paediatric rheumatologists and paediatricians will be invited across the world thanks to the valuable help of PReS. The program will be draw by expert from around the world with different expertise, to discuss basic research, advances in clinical practice, novel therapeutic options and novel genetics findings.

This unique networking event is ideal to improve the care and outcome of patients affected by this condition and to foster the achievement of a uniform standard of care across different countries in Europe. Our key speakers are leading experts in translational science (S Angeles-Han), novel therapeutic options (AV Ramanan) and autoinflammatory disease with uveitis (C Rosè, C Wouters). The ophthalmologist point of view will be given by several experts in this field, pointed out that a close collaboration between them and pediatric rheumatologist is crucial for the best management of these patients. Additionally, the point of view and experience of early career scientists will be presented in order to stimulate the discussion among experts.

Abstract
The Ehlers–Danlos syndromes (EDS) are a group of rare heritable connective tissue disorders, hallmarked by joint hypermobility, skin fragility, easy bruising, abnormal wound healing and widespread connective tissue friability. Of concern to this application are the types of EDS in which the underlying genetic causes have been identified (all except hypermobile EDS). These conditions are associated with increased morbidity and mortality, due to complications of tissue fragility, such as vascular and organ ruptures, and musculoskeletal complications. People with these types of EDS types are likely to have problems with diagnosis and lack of information about their condition. These issues decrease quality of care and often subject people to inadequate evaluation.

The hybrid networking event (August 30-31 2023, Ghent, Belgium) aims to bring together scientists, health care providers, patient advocate groups and patients to discuss current knowledge on the genetic and pathophysiological basis of these conditions, classification, and strategies needed to optimize diagnosis, care and treatment. Aim is to strengthen and expand clinical and basic research networks with identification of the most pertinent research questions. The meeting combines state-of-the art presentations, presentations by early career scientists and group discussions. It is linked to a patient-oriented meeting in which the current knowledge on genetically defined EDS types are presented to an international audience including patients and non-specialist clinicians.

Abstract
Imprinting disorders (ID) are a group of rare inborn disorders with serious impacts on growth, development, metabolism and behaviour. Early diagnosis enables the targeted management that can transform medical outcome for IDs, but undiagnosed children are at risk of issues such as obesity, diabetes, developmental problems, and in some cases childhood cancer; these issues have severe consequences for patients and their caregivers.

The textbook view of IDs is that each one involves a different set of genes; but in recent years our group have discovered that about a quarter of affected children have a so-called multi-locus imprinting disturbance (MLID) – that is, two or more sets of genes are affected at once. As MLID is recognised in more children, we learn more about its causes and effects. But patients, families and healthcare professionals urgently need standardised guidelines on what MLID is, when and how to look for it, how to diagnose it, how it affects patients, and how to manage it.

We will meet this need by holding an international network event to develop guidelines that are acceptable across the ethical, legal, social and medical systems of different nations. We will take fundamental insights from research and translate them into direct impact on patient care. Our work will be invaluable for healthcare professionals, making them more familiar with MLID in the wider context of IDs, and for patients and families, enabling them to secure the clinical and molecular diagnosis through which they will access personalised management.

Abstract
Ataxias are a group of rare neurological disorders that affect balance, coordination, and speech. There are many different causes of ataxia. Many ataxias are inherited conditions caused by defects in certain genes. The most common inherited progressive ataxia is Friedreich’s ataxia. Research is ongoing to identify other genes which cause inherited cerebellar ataxias and discover how they exert their effects. However, there are still many patients who do not have a specific diagnosis for their inherited ataxia. Despite recent research advancements, many forms of Ataxia have no treatment.

Multistakeholder collaboration is key to advancing research. Combing expertise of stakeholders in the field of Ataxia around Europe is of high importance to bridge the gap between scarce research and therapy development. The goal of the European Ataxia Conference is to present new therapeutic approaches and research results to the patients through the patient groups, and the scientific community.This networking event will provide patients with the opportunity to ask questions and understand the future of research and medical advances in Ataxias. The new research on gene discovery, and development in diagnosis, emerging and existing therapeutics, natural history, and biomarkers, will be presented and discussed.

This 2-day event includes presentations, networking, and Q&A sessions to promote exchange and knowledge sharing. This event will expand the Euroataxia network and offer a unique educational opportunity for all the participants.

Abstract
Endorsed by the European Reference Networks EURO-NMD, RND, EpiCare, MetabERN and EYE, the interERN mitochondrial working group aims to develop a consensus on care and safe medication use in patients with epilepsy caused by a primary mitochondrial disease. This consensus will help to develop expert state-of-the-art knowledge for patient management.

Primary mitochondrial diseases are inborn errors of energy metabolism, with a combined prevalence of 1/5000. Typically affect tissues with high-energy requirements, including the brain. Epilepsy is one of the main neurological manifestations, occurring in up to 60% of patients. Seizures are often resistant to medication and may develop into refractory non-convulsive status epilepticus, where the non-convulsive electric activity of the brain does not respond to adequate initial therapy. The major genetic causes of mitochondrial epilepsy are mutations in mitochondrial DNA and in the nuclear encoded-gene POLG. Treatment of mitochondrial epilepsy is challenging even for expert epileptologists. Examples of this difficulty are the risk of valproate toxicity and propofol infusion syndrome. Reason why standards of care need to be developed and disseminated.

A panel of experts in mitochondrial medicine, representative of the five ERNs will meet in June 2023 in Paris. During this workshop, the experts will produce a consensus paper on the management of epilepsy in mitochondrial diseases. Its dissemination and a plan for updating and curating the consensus paper will also be established.

Abstract
Beta-propeller Protein-associated Neurodegeneration (BPAN) is a severe rare disease affecting 2-3 per million individuals. Children with BPAN often suffer from severe developmental delay and epileptic seizures, which later progresses into dementia and parkinsonism. With the causal genetic mutation for BPAN only identified in 2012, research on molecular and cellular disease mechanisms is still in its infancy. Consequently, there is no treatment or cure for BPAN at this time. Nevertheless, increased interest in studying BPAN has resulted in novel disease model systems, natural history studies are being performed, novel therapies are being tested, and Patient Advocacy Organisations (PAOs) are working together with the overall aim to improve our understanding of the disease and find an effective treatment or cure.

This network event will be held in October 2023. It will bring together clinicians and academic researchers specialized in BPAN, as well as representatives from PAOs. The major aims of this event are to: i) identify the greatest barriers to basic, translational, and clinical research for BPAN, ii) generate a comprehensive list of currently available resources to include in a centralized, open-access, searchable database, and iii) discuss concrete actions to expand the BPAN research network, incentivize international collaboration, and promote career development of early career scientists. We envision that this network event will pave the way to novel discoveries, and thereby hopefully will accelerate the search for an effective treatment of this devastating disease.

Abstract
Angelman syndrome (AS) is a rare disease consisting of neurodevelopment delay, hypotonia, absent speech and very often epilepsy. It is sometimes difficult to find an expert clinic on AS in some European countries, which may contribute to a delayed diagnosis or clinical management issues. A group of European clinicians working on AS participating in some phase 1 studies for the disease, have decided to share our experience and projects to improve knowledge and create a well stablished net. Now we already have the motivation, it is necessary to stablish an organized structure to be able to meet in the following 12 months, for research moves forward with new molecules and treatments. Choosing a hybrid format is crucial to reach as many professionals and families as possible, including health care. This will allow AS families from different parts of Europe to better access clinical specialized global care and a provide a better chance to participate in new early phase studies.

Abstract
“Together against CMT” strives for bringing together European scientists, clinicians, other health professionals and patients advocacy groups. This initiative of the European Charcot-Marie-Tooth Federation (ECMTF), which unites almost all CMT patient organizations across Europe, aims at stimulating and promoting interdisciplinary cooperative research in the interest of CMT patients. It includes organizing access for CMT researchers to health data relevant to their research at the European, if not international level. At the same time, we try to mobilize patients to cooperate more closely with the specialists involved and to contribute (with their data as well as in studies and trials) to broaden the basis for successful research.

The aim of this conference Is to share knowledge and create synergies through innovative ideas with different specialist groups from all over Europe, and so enable all people living with CMT to receive an accurate diagnosis, care, and available therapy as soon as possible.

We are pleased to include health professionals and representatives of non-European patient organizations to learn from their experience and to stimulate cooperation also on a global level.

This conference is meant to initiate a process of structured cooperation of the relevant stakeholders including most distinguished researchers invited to set up the “European CMT Research Association”. It will take place in Paris on 9 and 10 June 2023.

Abstract
GNAO1 (G Protein Subunit Alpha O1) is a protein coding gene. Most patients with a GNAO1 neurodevelopmental disorder are diagnosed as infants or young children. Many of the patients begin experiencing seizures, abnormal movements and developmental delays in their infancy. The first GNAO1 patients were only identified in 2013. Because of that, the scientific community is still beginning to realize the spectrum of symptoms and impacts from mutations in GNAO1.

This networking event will explore recent developments in this field and create opportunities for new collaborations, debate on the development of precision medicine hypotheses and treatment trials to reach more patients across Europe. One of the strengths of this event will be bringing together senior and young academics, as well as patient advocacy organizations, which will enhance and create new ideas on every aspect of approach to this disease. The event will be held in Rome, Italy in June 2023.

The event will be structured in two days:

• Day 1: Scientific conference with lectures on both clinical aspects of the disease and updates on ongoing research projects. A round table, between clinicians, researchers and PAOs representatives will also be hosted to discuss the next steps to be taken to move the research forward.
• Day 2: Dedicated to GNAO1 families, that will have the possibility to spend some time together, share information, experiences, recommendations. Activities for both families and kids will be organized.

Abstract
More than 500,000 people in the European Union suffer from a rare neurological disease which can sometimes take years to diagnose and for which often no treatment is available. The European Reference Networks (ERNs) comprise doctors and researchers with expertise in rare or low-prevalence diseases. The ERNs involved in rare genetic neurological diseases are specialized in rare epilepsies (Epi-Care), other neurological conditions that lead to difficulties executing movements and limit many other brain functions (RND-ERN), and disorders that affect muscles and nerves (EURO-NMD). Finally, the MetabERN is specialized in rare disorders that disturb the chemistry of the cells. Whereas these networks are mainly based on the most prominent symptom of patients (epilepsy, disorders of movement, muscle and nerve problems), the chemistry of cells, also called metabolism, is almost always disturbed. Our event tries to see these rare neurological disorders through the “metabolic perspective”.

Highly specialized researchers from different countries will show how energy, proteins and lipids are used in the brain, and how small molecules for communication between neurons (neurotransmitters) may be disturbed in different disorders. This new approach may lead to the discovery of new markers to diagnose disorders. In the same way, this may lead to treat rare disorders from a metabolic perspective: with specific diets or treatments that protect lipid and/or protein equilibrium. Doctors, researchers, young researchers, and patient associations will attend this event in July 2023 in Barcelona.