2021 CCDS Virtual Conference

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2021 CCDS Virtual Conference Archive

The focus of this meeting was to share the latest CCDS research and to broaden our research network. We heard from researchers on a variety of topics and were joined by industry partners who provided their insights into therapeutic development for rare diseases.

Caregivers, researchers, scientists, medical professionals, and industry stakeholders were in attendance and participated in the Q&A discussions following each session.

To support research, ACD can help with biosamples, survey data, research grants, and other forms of collaboration. Please reach out to our research team at research@creatineinfo.org if you’d like to collaborate.

September 10, 2021 – Day 1 of 2

Session 1

8:00 – 9:30 am PDT, 17:00 – 18:30 CET

Sangeetha Iyer – Association for Creatine Deficiencies

2021 CCDS Virtual Conference Kickoff & ACD Updates <Video Link>

Olivier Braissant – Service of Clinical Chemistry, Lausanne University Hospital, Switzerland

“AAV strategy to treat creatine transporter deficiency in the Slc6a8Y389C KI rat” <Video Link>

Rikke Birkedal – Tallinn University of Technology, Department of Cybernetics

“The effect of creatine deficiency on muscles and heart in AGAT and GAMT mice” (talk not recorded)

Lara Duran – CHUV-UNIL

“Slc6a8xY389C/y KI rat males exhibit motor dysfunction linked with muscle Cr deficiency without muscle atrophy and morphological alterations in cerebellum” (talk not recorded)

Q&A Session

Session not recorded

Session 2

9:30 – 10:30 am PDT, 18:30 – 19:30 CET

Elsa Ghiradini – CNR Institute of Neuroscience

“Tackling Creatine Transporter Deficiency: new insight into cell-specific vulnerability and development of a gene therapy approach” <Video Link>

Alex Kuan – University of Virginia School of Medicine, Department of Neuroscience

“The importance creatine transporter for maintaining the brain energetics and stress-adaptation homeostasis” <Video Link & Part 2 Here>

Madeleine Hall – The Hospital for Sick Children

“Effect of Creatine Supplementation on AGAT Expression and Metabolic Intermediates in GAMT-Deficient mice” <Video Link>

Q&A Session

Session moderated by Nicola Longo & Laura Trutoiu <Video Link>

Session 3

10:45 – 11:45 am PDT, 19:45 – 20:45 CET

Aurore Curie – French National Reference Center for Rare Diseases with Intellectual Disability, Department of Child Neurology, Woman Mother and Child Hospital, Lyon University Hospital

“Efficacy judgment criteria for clinical trial in Creatine Transporter Deficiency” (talk not recorded)

Beth Potter – University of Ottawa

“Core outcome sets: engaging patients and families in consensus methods to identify the outcomes that matter most” <Video Link>

Mark Levin – NHLBI, NIH

“Cardiac abnormalities in patients and animal models of creatine transporter deficiency” <Video Link>

Q&A Session

Session moderated by Sarah Young & Carole Chehowah <Video Link>

Session 4

12:00 – 1:00 pm PDT, 21:00 – 22:00  CET

Steve Baker – University of Utah

“GATM and GAMT synthesize creatine locally throughout the mammalian body and within oligodendrocytes of the brain” <Video Link>

Matthew Skelton – Cincinnati Children’s Research Foundation

“Examining executive function in creatine transporter knockout mice” <Video Link>

Gerald Lipshutz – David Geffen School of Medicine at UCLA

“Control of GAA and Restoration of Creatine Levels with Gene Therapy for Guanidinoacetate Methyltransferase Deficiency” (talk not recorded)

Q&A Session

Session moderated by Olivier Braissant & Mikelle Law <Video Link>

Keynote Speaker

1:00 – 2:00 pm PDT, 22:00 – 23:00 CET

Steven Gray – University of Texas Southwestern Medical Center

“AAV-mediated gene therapy for neurological disorders” <Video Link>

September 11, 2021 – Day 2 of 2

Session 5

8:00 – 9:30 am PDT, 17:00 – 18:30 CET

Alana O’Brien – University of Florida

“Characterization of SLC6A8 Mis-splicing and Protein Expression in a Patient with Creatine Transporter Deficiency” <Video Link>

Aloise Mabondzo – CEA

“Non-Invasive Nose-to-Brain Delivery of CBT101 Highlights a Widespread Brain Creatine Content in Non Human-Primates” <Video Link>

Nicola Longo – University of Utah

“Small molecules for the treatment of GAMT deficiency” <Video Link>

Alex Lee – University of Toronto

“Identifying the mechanism by which creatine represses expression of AGAT” <Video Link>

Claire Steppan – Pfizer

“Unlocking Solute Carriers Transporters: an impact on the scientific community” (talk not recorded)

Q&A Session

Session moderated by Jonathan Schlebach and Sean Sumner <Video Link>

Session 6

9:30 – 10:30 am PDT, 18:30 – 19:30 CET

Lara Gechijan – Jnana Therapeutics

“A novel corrector for variants of SLC6A8: a therapeutic opportunity for Creatine Transporter Deficiency” (talk not recorded)

Peter Axerio-Cilies – BC Children’s Hospital

“Towards the Discovery of Small Molecules that Restore Function to Defective SLC6A8 Creatine Transporter Variants” <Video Link>

Charles Kuntz – The Schlebach Lab at Indiana University

“Towards the Discovery of Small Molecules that Restore Function to Defective SLC6A8 Creatine Transporter Variants” <Video Link>

Q&A Session

Session moderated by Franziska Haderk and Erin Coller<Video Link>

Session 7

10:45 – 11:15 am PDT, 19:45 – 20:15 CET

Sofia Balog – Association for Creatine Deficiencies

ACD 2021 Registry Update <Video Link>

Heidi Wallis – Association for Creatine Deficiencies

“Shortening the Road to Diagnosis” <Video Link>

Q&A Session

Session moderated by Heidi Wallis with Session 7 and Plenary speakers<Video Link>

Plenary Speaker

11:15 am – 12:00 pm PDT, 20:15 – 21:00 CET

Marzia Pasquali – University of Utah/ARUP Laboratories

“Cerebral Creatine Deficiency Syndromes: Screening, Diagnosis, Monitoring. What have we learned?” <Video Link>

Session 8

12:00 – 1:00 pm PDT, 21:00 – 22:00 CET

Jack Schjelderup – Haukeland University Hospital, Norway

“Treatment experience in two adults with creatine transporter deficiency” <Video Link>

Judith Miller – Children’s Hospital of Philadelphia & University of Pennsylvania

“Vigilan Observational Study of CTD – Study Progress and Updates” (talk not recorded)

Melanie Brandabur – Ultragenyx Pharmaceutical Inc.

“Creatine Transporter Deficiency Caregiver Perspectives and the Path to Diagnosis” <Video Link>

Q&A Session

Session moderated by Celeste Graham and Sylvia Stockler with Session 8 speakers <Video Link>

Session 9

1:00 – 1:15 pm PDT, 22:00 – 22:15 CET

Laura Trutoiu – Association for Creatine Deficiencies

“The Road from Diagnosis to Treatment for CCDS” <Video Link>

Sangeetha Iyer – Association for Creatine Deficiencies

Closing Remarks <Video Link>

Watch the YouTube playlist of Recordings
Speaker Bios & Talk Abstracts