Register for CCDS Day 2024!
Join us as we launch our collaboration with Drs. Laura Baroncelli, Michela Fagiolini, and Irina Anselm at Boston Children’s Hospital to investigate fNIRS as a functional biomarker in CCDS patients.
Date: February 1, 2024
Time: 1:30pm – 6:15pm EST
Virtual : Zoom
In-Person: Boston Children’s Hospital, Center for Life Sciences (Karp 12 Boardroom, BCH, 1 Blackfan Circle, Boston)
Organized by Michela Fagiolini, PhD (contact for more info) & the patients-led Association for Creatine Deficiencies
Program
1:30-1:35 Michela Fagiolini, Opening Remarks- BCH (Boston, USA)
1:35-1:50 Mustafa Sahin, TNC, New approaches to rare neurodevelopmental disorders-BCH (Boston, USA)
1:50-2:30 ACD Foundation, ACD strategies and personal experiences- ACD (USA)
2:30-3:00 Irina Anselm, Clinical presentation of CDDs and treatment- BCH (Boston, USA)
3:00-3:30 Judith Miller, Final results of the VIGILAN observational study-CHOP-UPenn (Philadelphia, USA)
3:30-4:00 Aurore Curie, CREAT, a Prospective study in Creatine Transporter Deficiency to determine the most relevant clinical outcomes- Hospices Civils De Lyon (Lyon, France)
4:00-4:15 Coffee Break
4:15-4:45 Audrey Thurm, Clinical Neurodevelopmental outcome measures in CTD- NIMH-NIH (Bethesda, USA)
4:45-5:15 Samar Rahhal, Fluid biomarkers for CDDs- NICHD-NIH (Bethesda, USA)
5:15-5:45 Matt Skelton, Understanding the mechanism of CTD using preclinical animal models- Cincinnati Children’s Hospital (Cincinnati, USA)
5:45-6:15 Laura Baroncelli, New neuroimaging tools and therapies for CDDs-Institute of Neuroscience CNR (Pisa, Italy)
6:15-6:30 Closing remarks