Gene/phenotype/disorder under study
KIF1A-associated neurological disorder (KAND) – KIF1A (OMIM #601255)
PACS1 neurodevelopmental disorder (Schuurs-Hoeijmakers syndrome) – PACS1 (OMIM #607492)
Abstract
We are currently in the process of building a proposal for the upcoming ERDERA Clinical Trial Call to evaluate antisense oligonucleotide (ASO)-based therapeutic approaches for severe rare neurodevelopmental disorders with high unmet medical need and no approved treatment such as KAND and PACS1 neurodevelopmental syndromes.
At this stage, we are seeking to identify clinicians and centres with expertise in these disorders, access to relevant patient populations, and expertise in conducting clinical trials and willingness to take responsibility for that in their own country.
We are particularly interested in obtaining information regarding: – Number of patients followed at your centre or in your network; – Existing local or national registries; – Experience with intrathecal administration of therapies.
We would welcome discussions with centres interested in participating in a potential multinational consortium and contributing to the assessment of trial feasibility, patient recruitment and site capabilities.
As a preliminary step, we would like to submit a proposal under the French MRSEI funding scheme, which supports the establishment of European or international scientific networks to prepare collaborative projects for major European or international funding calls with significant scientific impact.
If you also have contacts with researchers interested in the societal aspects of these rare disease therapies, we would be very grateful if you could put us in touch with them.
Coordinating clinician
Laurence Faivre – laurence.faivre@chu-dijon.fr; ziegler.a@chu-toulouse.fr
Institution
Genetics and Clinical Investigation Centre, CHU Dijon, France
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No