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18 March 2024

ProDGNE Meeting 2024: An international Meeting on GNE Myopathy, Cagliari 19-20 April

ProDGNE International Meeting on GNE Myopathy 2024

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.



Registrations are open and cover access to sessions, poster exhibition  and meals. 

Registration deadline: 15th April 2024

Please complete registration at this link to join in-person by 15 April

Please complete registration for online attendance at this link any time 

Interpretation will be available EN <> IT

The call for patient fellowships is now closed. If you are a patient or carer and interested in attending please contact us at

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.


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.


      Abstracts must be submitted to 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. 


Please find the abstract template and guidelines for abstract submission at this link



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)

14:30: Welcome | Michela Onali (ProDGNE), Pierluigi  Caboni (UNICA, Italy), Valeria Pace (Gli Equilibristi HIBM, Italy)

  • 14:45: Impact of Patient Partnership in ProDGNE and de-risking science | Michela Onali, ProDGNE Engagement Lead.
  • 15:05: Consolidating the Rare Diseases Research Ecosystem | Daria Julkowska, EJP RD – European Joint Programme on Rare Diseases Coordinator, France

15:20 Q&A

  • 15:30: European Reference Networks: a European model of cross-border collaboration in RDs diagnosis and care | Teresinha Evangelista, ERN Euro-NMD Coordinator, Institute of Myologie Sorbonne Université, GHU Pitié-Salpêtrière Hospital, France 
  • 15:45: The importance of FAIR data sharing  in rare disease research | Nawel Lalout, Radboudumc and World Duchenne organisation, The Netherlands

16:00: Q&A

- SESSION 1: Training in Research and Development: the EURORDIS OPEN ACADEMY and the collaboration among rare disease advocates

  • 16:05: The EURORDIS OPEN ACADEMY, joint efforts and a coordinated action in rare diseases | Roseline Favresse, EURORDIS Research Policy and Initiatives Director and Ilaria Galetti, Vice President of FESCA, the Federation of European Scleroderma Associations and GILS. 

16:25 Q&A

- SESSION 2: Introduction to GNE Myopathy

  • 16:30: The patient perspective: understanding impact and challenges of patient advocates in an ultra-rare disease like GNEM | Shilpi Bhattacharya, 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 

ProDGNE as a transnational and multisciplinary approach to advance drug development in GNE Myopathy

  • 17:30: Phosphate Prodrug approaches in drug discovery | 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 Luca Casula University of Cagliari, Italy
    • Immune perspectives on GNEM and toxicological studies of Prodrugs | Paula Videira, FCT NOVA, Lisbon, Portugal
    • Post-translational modifications on GNE |Rüdiger Horstkorte, Martin Luther University Halle-Wittenberg, Germany
    • Zebra fish models of GNE myopathy | Jarred Lau, CHEO, Ottawa, Canada

18:45  Q&A 



20 April 2024
Drug development and research efforts in GNEM across the world: USA, Korea, India
Chaired by Hanns Lochmüller, CHEO Research Institute, Canada
9:00: Welcome and introduction to the day
  • 9:10
    Journey of PADM | Yuriko Oda, Representative of the Patient Association of Distal Myopathy (PADM), Japan
  • 9:30
    Studies of natural history of GNE myopathy and ManNAc as a potential therapeutic avenue | Francis Rossignol and May Malicdan, National Institutes of Health, USA
  • 10:15
    Pilot clinical trial on Sialyllactose for patients with GNE Myopathy | SHIN Jin-Hong, Pusan Nat’l University Yangsan Hospital Yangsan, Republic of Korea
  • 10:45
    Therapeutic options for GNE myopathy in India : WWGM’s efforts | Sudha Bhattacharya, World Without GNE Myopathy, and Ashoka University, Sonipat, India
Research, biomarker and diagnostic efforts: The Netherlands, Germany and Italy

  • 12:15
    Research on GNE myopathy in the Radboudumc CDG Expertise Center | Dirk Lefeber, Radboud University Medical Center (Radboudumc) | Nijmegen (The Netherlands
  • 12:45
    Biomarker studies and proteomics – Justified and unjustified demands | Andreas Roos, University Hospital Essen, Germany
  • 13:05
    Lipidomic studies in ProDGNE | Pierluigi Caboni, University of Cagliari, Italy
What do we know and still need to know about GNE Myopathy? Canada, Japan, China, Italy, Bulgaria, Finland, Germany, Canada
Chaired by May Malicdan , National Human Genome Research Institute, NIH, USA

  • 15:10
    Metabolomics and Machine Learning for Understanding GNE Myopathy, David Wishart, University of Alberta, Canada 
  • 15:40
    Ten years of the national registry in Japan – Achievements and insights | Wakako Yoshioka, National Center of Neurology and Psychiatry (NCNP) Tokyo, Japan
  • 16:00
    The mutational spectrum and preliminary natural history data of GNEM cohort in ChinaWenhua Zhu, Department of Neurology, Huashan Hospital, Fudan University, China
  • 16:20
    ITA-MeD and Dista-Myo: focus on GNEM | Sara Bortolani, Policlinico Universitario Agostino Gemelli, Rome, Italy
  • 16:40
    GNE Myopathy in Bulgaria | Ivailo Tournev and Teodora Chamova Alexandrovska University hospital, Sofia, Bulgaria
17:15 Flash Talks
Chaired by Francis Rossignol, National Human Genome Research Institute, NIH, USA

Initiatives to support biomedical research in Sardinia | Franco Cappai, Sardegna Ricerche, Cagliari, Italy

The genetic epidemiology of GNEM | Hanns Lochmüller, CHEO, Ottawa, Canada

Unreported GNE findings from the Helsinki resequencing analysis | Marco Savarese, Folkhälsan Research Centre, Helsinki, Finland

The p.Val569Leu variant leads to early-onset GNE-myopathy in a consanguineous family | Andreas Roos, University Hospital Essen, Germany

ManNAc Prodrugs as single diastereomers via resolution of precursor stereoisomers | James Morewoood, Cardiff University

How is antigen presentation involved in GNE myopathy pathomechanism? | Beatriz Pereira, FCT NOVA, Portugal

Lessons learned from a C2C12 GNE-knock out model | Carolin Neu, Martin Luther University Halle-Wittenberg, Germany

18:15 –  19:15

Round table discussion

Strengthening collaborations world-wide: What unmet needs, challenges and opportunities for GNE Myopathy?