News

We are planning an International SSADHD Conference to be held in Boston, MA in the United States on July 9 – 10, 2020.  We are attempting to pull together researchers and clinicians who are involved with SSADH from around the world.  We will also have sessions that focus on everyday issues that SSADH family’s face…

We are pleased to announce that we have opened sites in Barcelona, Spain and Oslo and Gottingen, Germany for patients to participate in the SSADH Natural History Study. Patients willing to participate in the SSADH Natural History Study from Spain should get in touch with Dr. Natalia Juliá (Neurologist) who will schedule your appointment.  This…

We want to thank all those who participated in the 21st Annual Chip for Charity golf outing. Those of you who were able to join us know that we didn’t have our usual great weather, and even though it was misty, foggy and rather chilly, it didn’t keep anyone away.

Gamma-Hydroxybutyrate Content in Dried Bloodspots Facilitates Newborn Detection of Succinic Semialdehyde Dehydrogenase Deficiency. Further, development of a first-tier screening method for SSADHD employing metabolites currently measured (amino acids, acylcarnitines, creatine, guanidino species) is under study. Madalyn Brown, PhDUniversity of Washington State

Washington, DC, July 19, 2019—The National Organization for Rare Disorders (NORD)®, the leading independent nonprofit organization representing the over 25 million Americans with rare diseases, announces the appointment of four new members to its Board of Directors, effective immediately. Joining the Board of Directors are Kay Holcombe, Neil Horikoshi, Phillip L. Pearl, MD and Mike…

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 Prof. Dr. Thomas Opladen and…

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 through a variety of tests. …

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 description of the natural course…

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 the USA will be at…

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 states web site if you…