We are pleased to invite you to the inaugural online ITHACA Clinic, scheduled for March 6th from 12:00 to 13:30 CET on the CPMS 2.0 platform, chaired by Sofia Douzgou Houge and Adela Chirita-Emandi.
The ITHACA Clinic is a multidisciplinary forum bringing together clinicians, molecular geneticists, and researchers to provide expert recommendations on challenging cases. Beyond a standard consultation, this is an opportunity to leverage the collective intelligence of our network to achieve significant medical impact
Why Participate?
- Expert Insights: Gain diagnostic clarity and tailored management suggestions.
- Documentation: Receive an ERN-ITHACA summary report of the panel’s formal conclusions.
- HCP Recognition: Participation will be recognized in your healthcare provider’s yearly ERN evaluation.
- Collaboration: Explore new avenues for European research partnerships.
Case Submission & Registration
To participate, please complete the following steps:
1. Register as a case presenter or participant: https://forms.office.com/e/k5KDkPxfGR by 27.02.2026.
2. Connect to your EU Login portal: The CPMS is accessible after you authenticate to your EU Login Account. You can access your EU account either from your computer or your mobile phone.
3. Access CPMS 2.0 on your computer: https://cpms2.ern-net.eu/
4. Submit Your Case: Complete the attached template (7-8 slides are recommended) and create the case on CPMS 2.0 by 27.02.2026.
5. Naming Convention: To ensure HCP activity is tracked correctly, please set the case nickname to: ‘City’01-ITHACA, for example Paris01-ITHACA, before validating.
6. Attachments, Genetic Testing Reports: We encourage including anonymized genetic testing reports during the upload, however this is optional.
7. Technical assistance: Please contact Nicholas Szeto nicholas.szeto@aphp.fr
Disclaimers
- DPO Approval: Case submission should have been approved by your hospital’s Data Protection Officer
- Consent: Submitters who share sensitive data should have obtained explicit consent using the GDPR-compliant consent form (see here https://ern-ithaca.eu/our-workgroups/healthcare-cpms/ )
- Personal Data: Participants must not take photographs or videos nor use any means that potentially identify any patient, lead to the identification of any patient or compromise the anonymity or privacy of any patient in any way.
- Use of data from the ERN-ITHACA summary report: Authors who use this data must:
Acknowledge ERN-ITHACA using the following wording: This study makes use of data generated by the ERN-ITHACA community [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516]. - Cite the following publication: Smith, M., Alexander, E., Marcinkute, R., Dan, D., Rawson, M., Banka, S., Gavin, J., Mina, H., Hennessy, C., Riccardi, F., Radio, F. C., Havlovicova, M., Cassina, M., Emandi, A. C., Fradin, M., Gompertz, L., Nordgren, A., Traberg, R., Rossi, M., Trimouille, A., … ERN ITHACA (2020). Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders. Orphanet journal of rare diseases, 15(1), 103. https://doi.org/10.1186/s13023-020-1349-1
We look forward to advancing the art and science of Dysmorphology together!