Conquering a rare metabolic condition: A family, a pediatrician, and two labs join forces
Boston Children’s Hospital and Dr. Phil Pearl, have long been at the center or our mission to find a treatment for SSADH Deficiency. Pearl teamed up with Mike Gibson, PhD. about 15 years after he originally described SSADH Deficiency in a patient in 1983.
Although, June of 2023 will bring an end to the Natural History Study patient visits at Boston Children’s Hospital, it has only fueled the work of multiple research teams to continue their work in finding a treatment for this ultra-rare disorder.
With the conclusion of the NHS we celebrate the fact that we exceeded the enrollment goal of 50 patients, with 61 participants and 42 healthy controls (mostly made up of SSADH family members). Work will continue analyzing the data captured and a number of additional grants have already been submitted to the NIH to extend the reach of the Natural History Study.
We are excited to share a story that Boston Children’s Hospital posted on their web site highlighting the SSADH research being done in the Rosamund Stone Zander Translational Neuroscience Center and the F.M. Kirby Neurobiology Center. We are grateful to be part of
the largest basic neuroscience research enterprise at a U.S. hospital.
Sam (center), flanked by his parents (Carolyn and Brad) and sibling (Jacob and Sarah), is helping scientists better define SSADH deficiency and has donated his cells to research. Since his diagnosis with SSADH deficiency at the age of 18 months, scientists at Boston Children’s have been making strides toward developing a gene therapy.
We are grateful to those who have supported the SSADH Association and our mission to find a treatment for SSADH Deficiency. The research and the biorepository is a result of your generous donations.