News

We have the maximum number of patients that we need to visit Boston Children’s Hospital for the Natural History Study.  We are now working on getting families to register for the international portion of the Natural History Study.  That side of the study is less involved.  We are working with…

Sam kicked off the SSADH Natural History Study at Boston Children’s Hospital on March 6, 2019.  We found the study to be extremely organized and efficient.  We were personally escorted to each test by Dr. Melissa DiBacco.  We were always able to stay very close to Sam as he went…

The Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) Natural History Study Group of Drs. Gibson, Pearl, DiBacco, Krischer, Roullet, Opladen and Jeltsch, are officially opening their National Institutes of Health (NIH) – funded clinical study of patients with SSADH for enrollment. The goal of the research team is to pioneer the first-ever…

We are close to the beginning of an NIH-funded study that will carry out a 5-year Natural History of SSADH (succinic semialdehyde dehydrogenase deficiency). This study will include clinical data (imaging, electrophysiology, neuropsychiatric evaluation, etc) and biomarker data (blood, urine, CSF, saliva, DNA, etc). Primary intake site for patients in…

We are working on a way to easily test for SSADH from a dried bloodspot, but need some original Dried Bloodspot Cards used for Newborn Screening from SSADH patients within the United States. Each state has their own regulations for preserving the bloodspots. Usually the information is posted on the…

I want to thank you again for your letters of support for this NIH grant application submitted by Drs. Jean-Baptiste Roullet and Mike Gibson (Washington State University) and his colleagues, Dr. Phillip Pearl, (Boston Children’s Hospital), Dr. Thomas Opladen (University Children’s Hospital, Heidelberg, Germany), Dr. Jeff Krischer (University of South…