CCDS Day 2024 Registration

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


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