The Association for Creatine Deficiencies (ACD) welcomes Dr. Ton DeGrauw as part of the Scientific Medical Advisory Board (SMAB)! Dr. DeGrauw joins Dr. Longo, Dr. Andrews, Dr, Barshop, Dr. Chan, Dr. Morita, Dr. Salomons, Dr. Schulze, Dr. Skelton, Dr. Stockler, and Dr. Young as advocates for Cerebral Creatine Deficiency Syndromes (CCDS).
Dr. DeGrauw is a pediatric neurologist and professor of neurology and pediatrics at Emory University. His research has involved the effects of neurometabolic disorders and epilepsy on the developing brain resulting in 100 peer-reviewed publications. He has a longstanding interest in energy metabolism of the brain and specifically, he has focused on creatine deficiency syndromes after he and his collaborators were the first to find several patients with Creatine Transporter Deficiency in the early 2000s. He was instrumental in developing a CrT knockout model and showing that treatment for this condition may be possible.
ACD: What is your background in creatine deficiencies?
DeGrauw: We found the first patients with CrT deficiency in Cincinnati in 2001. I have followed four patients with GAMT deficiency and 11 patients with CrT deficiency during my time in Cincinnati.
ACD: Have you seen patients with all three disorders?
DeGrauw: I have not seen AGAT deficient patients.
ACD: What are your hopes for the future for these disorders?
DeGrauw: I have been involved in the clinical description of CrT deficiency, in the development of the knockout mouse model for CrT, as well as the experimental treatment with cyclocreatine. Now I am part of an NIH R01 grant (Alex Kuan, MD, Ph.D., Principal Investigator) to have a better understanding of the basic pathological mechanism of CrT deficiency in the mouse model as well as to try to develop a new treatment for the disease.
ACD: How can families become involved and help research?
DeGrauw: Families can help by signing up for the clinical trials that are currently active (Observational clinical trial for CrT deficiency) or that will become active in the near future.
Thank you, Dr. DeGrauw! We are very excited to have you onboard.