The ACD Conference held in Austin, TX in July 2018 was truly a wonderful experience and opportunity for so many of us in the CCDS community. While we were not able to attend, we were given the opportunity to view the presentation and slides as presented by renowned GAMT expert, Dr. Andreas Schulze.
Dr. Schulze has many titles: Professor of Pediatrics and Biochemistry at the University of Toronto as well as Head of Metabolic Genetics Medical Director at the Hospital for Sick Children in Toronto.
Dr. Schulze starts his presentation with how he stumbled upon GAMT during his residency. His first patient was discovered at 15 months old and showed signs of global developmental delays, regression, and seizures. A second clinical study was discovered when a four-year-old girl presented signs of developmental delays, low muscle tone, and seizures.
The team began diagnostic testing of the patients, but it wasn’t until they conducted an MRI spectroscopy, that they understood what they had found: low creatine peaks within the brain.
Dr. Schulze and team had started testing treatments using the supplementation of creatine. Through trial and error and additional research and clinical case studies, they discovered the treatment plan we are universally using today. The mixture of supplements: creatine, l-ornithine, sodium benzoate, and a restricted protein diet, alongside supplementing with amino acid formula, had proved to show the best outcome in keeping GAA levels low and slowing the signs of progression in his patients.
Dr. Schulze and his team are currently working on new and ongoing projects related to GAMT. Some of these include 1) comparative studies of creatine metabolism and gene expression in patients’ muscles, 2) sibling study to demonstrate the benefit of early intervention in GAMT, 3) drug discovery for treatment of GAMT, 4) deciphering the mechanism of regulation of creatine synthesis, as well as several others. These are all in the testing and research phase currently.
As parents of a set of GAMT twin boys, we found this presentation to be truly fascinating. The importance of the clinical studies during the early years has benefited us directly as we are able to help our own children and loved ones to have better outcomes. The importance of early screening for GAMT is apparent. It is a wish of ours that through Dr. Schulze’s work, that of the ACD, and the efforts of our outspoken GAMT community members, our collective efforts will serve as a catalyst in having GAMT added to newborn screening across the world.
Through the continued efforts of Dr. Schulze’s research and future projects of his and other researchers’ we are provided with additional hopes that perhaps an enhanced treatment plan might come to fruition in the near future.
**Thanks to Jenny and Jeff Wolf for writing this blog post.