Cagliari, 19-20 April 2024
The ProDGNE team is thrilled to meet you soon in the beautiful capital of Sardinia, Cagliari!
On the third and final year of the EJP RD grant which made ProDGNE possible, we are organising an international meeting on GNE Myopathy which will gather patients, researchers, healthcare professionals and stakeholders involved in GNE Myopathy and Rare Diseases world-wide.
We invite you all to join us in making this an opportunity for learning from patients, meeting new collaborators, creating new connections, share ideas and ongoing efforts while expanding and building an open science and collaborative framework for people living with GNE Myopathy.
Registrations and abstract submission are open!
We can’t wait to see you soon,
The ProDGNE team
About ProDGNE
ProDGNE is a 3-year transnational pre-clinical research project funded in the framework of the European Joint Programme on Rare Diseases (EJP RD) Joint Transnational Call 2020.
The project combines patient experience, complementary, and synergist expertise in glycobiology, biochemistry, medicinal chemistry, clinical pharmacology, -omics, biomarker discovery, pharmaceutical technology, and clinical expertise to develop an innovative therapeutic compound to treat GNEM, a rare genetic muscle disease affecting young adults.
Location
Hotel Regina Margherita, Cagliari, Italy
Registration
Registrations are open and cover access to sessions, poster exhibition and meals.
Registration deadline: 15th April 2024
Please complete registration at this link
The call for patient fellowships is now closed. If you are a patient or carer and interested in attending please contact us at info@prodgne.eu
This meeting was financially made possible by the in-kind work of patients advocates, funding from Gli Equilibristi HIBM (donations from members and families collected over the past years) and University of Cagliari + registration fees.
Poster Abstract Submission by 11 April 2024
Academics, researchers, patient organizations, patient advocates, industry, government agencies, and health care professionals are invited to submit a poster abstract for the ProDGNE Meeting 2024, taking place in Cagliari, Italy on 19-20 April 2024
We encourage you to submit abstracts to highlight the great work happening throughout the GNE Myopathy and rare disease community.
THEMES & TOPIC GUIDANCE
We welcome abstracts from all areas relevant to the main themes of the meeting. Poster abstracts can include but are not limited to the following areas of work:
- Research in GNE Myopathy
- Supporting research and science in GNE Myopathy and Rare Diseases
- Collaborative approaches to challenges in GNE Myopathy and Rare Disease Research
- Basic Science of Glycosylation
- Models, cultured cells including patient-derived IPS cells
- Therapies – ongoing trials and pre-clinical testing
- Role of patients in leading and driving research efforts in rare diseases
- Digital Health and diagnostic tools in Rare Diseases
- Technology Tools to advance research or support the Rare Disease community
- FAIR Data sharing, registries.
KEY DATES & DEADLINES
Abstracts must be submitted to info@prodgne.eu by 11 April 2024 23:59 CEST
Notification of Acceptance will be issued by 12 April 2024
Registration will be required for all accepted abstracts. Final acceptance is conditional upon registration and payment of presenters. If we do not receive your registration by the deadline indicated your abstract will not be considered for poster display.
POSTER TEMPLATE AND GUIDELINES
Please find the abstract template and guidelines for abstract submission at this link.
DRAFT AGENDA
DAY 1
19 April 2024
OPENING SESSION Collaborative and Open Science approaches to address gaps in GNE Myopathy and Rare Diseases
Chaired by Sally Spendiff (CHEO, Canada) and Michela Onali (ProDGNE)
15:00: Welcome | Michela Onali (ProDGNE), Pierluigi Caboni (UNICA, Italy), Valeria Pace (Gli Equilibristi HIBM, Italy)
- 15:10: Impact of Patient Partnership in ProDGNE | Michela Onali
- 15:30: The importance of FAIR data and data sharing in rare disease research | Nawel Lalout, Radboudumc and World Duchenne organisation, The Netherlands
- 15:45:European Reference Networks: a European model of cross-border collaboration in RDs diagnosis and care | Teresinha Evangelista, Euro-NMD Coordinator, France
16:15: Q&A
– SESSION 1:
Introduction to GNE Myopathy
- 16:30: The patient perspective: understanding impact and challenges of patient advocates in an ultra-rare disease like GNEM | Shilpi Battacharaya, WWGM, India
- 16:45: Introduction to GNE Myopathy and progress in research | Hanns Lochmüller, CHEO Research Institute, Canada
- 17:00: Sialic acid biology and animal models: challenges and what we still don’t know | Rüdiger Horstkorte, Martin Luther University Halle-Wittenberg, Germany
17:15 Q&A
– SESSION 2
ProDGNE as a transnational and multisciplinary approach to advance drug development in GNE Myopathy
- 17:30: Prodrugs and applications of phosphoramidate technology | Michaela Serpi and Fabrizio Pertusati (Cardiff University, School of Chemistry, Cardiff, UK)
- 17:55: ProDGNE updates
- Synthesis of prodrugs | Fabrizio Pertusati, Cardiff University, School of Chemistry, and Francesco Corrias, University of Cagliari, Italy
- Immune perspectives on GNEM and toxicological studies of Prodrugs | Paula Videira, FCT NOVA, Lisbon, Portugal
- Role of ProDGNE prodrugs on GNE activity |Rüdiger Horstkorte, Martin Luther University Halle-Wittenberg, Germany
- Prodrug testing in Zebra fish | Jarred Lau, CHEO, Canada
18:45 Q&A
19:00 NETWORKING COCKTAIL + POSTER EXHIBITION
DAY 2
20 April 2024
SESSION 1:
Drug development and research efforts in GNEM across the world: USA, Korea, India
Chaired by Hanns Lochmüller, CHEO, Canada
9:00: Welcome and introduction to the day
- 9:10Patient Perspective on research development in GNE Myopathy | Yuriko Oda, Japan
- 9:25Studies of natural history of GNE myopathy and ManNAc as a potential therapeutic avenue | Francis Rossignol and May Malicdan, National Institutes of Health, USA
- 10:15Pilot clinical trial on Sialyllactose for patients with GNE Myopathy | SHIN Jin-Hong, Pusan Nat’l University Yangsan Hospital Yangsan, Republic of Korea
- 10:45Therapeutic options for GNE myopathy in India : WWGM’s efforts | Sudha Battacharaya, World Without GNE Myopathy, and Ashoka University, Sonipat, India
11:15: COFFEE BREAK + POSTER PRESENTATIONS
SESSION 2
Research, biomarker and diagnostic efforts: The Netherlands, Germany and Italy
- 12:15Research on GNE myopathy in the Radboudumc CDG Expertise Center |Dirk Lefeber, Radboud University Medical Center (Radboudumc) | Nijmegen (The Netherlands
- 12:50Proteomic studies in ProDGNE | Andreas Roos, University Hospital Essen University of Duisburg-Essen, Germany
- 13:10Lipidomic studies in ProDGNE | Pierluigi Caboni, University of Cagliari, Italy
SESSION 3
What do we know and still need to know about GNE Myopathy? Canada, Japan, China, Italy, Bulgaria, Finland, Germany, Canada
- 15:00Exploring targeted and untargeted metabolomics approaches for GNEM, David Wishart, University of Alberta, Canada
- 15:40Data from the Japanese Registry: 10 years after its establishment | Wakako Yoshioka, National Center of Neurology and Psychiatry (NCNP) Tokyo, Japan
- 16:00The mutational spectrum and preliminary natural history data of GNEM cohort in China | Wenhua Zhu, Department of Neurology, Huashan Hospital, Fudan University, China
- 16:20GNE Myopathy in Italy | Sara Bortolani, Policlinico Universitario Agostino Gemelli, Rome, Italy
- 16:35GNE Myopathy in Bulgaria | Ivailo Tournev and Teodora Chamova Alexandrovska University hospital, Sofia, Bulgaria
- 16:35Unreported GNE findings from the Helsinki resequencing analysis | Marco Savarese, Folkhälsan Research Centre, Helsinki, Finland
- 17:10Flash talks
18:15 – 19:15
Round table discussion
Strengthening collaborations world-wide: What unmet needs, challenges and opportunities for GNE Myopathy?
END OF MEETING
20:15: NETWORKING DINNER AND FAREWELL
