News

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.
We are grateful to each of you for your involvement in making the outing another huge success. It is because of your generosity that we were able to raise over $100,000 this year, pushing the cumulative total over $1.5 million.

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…

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 Florida). They received over 50…

$12,000 was awarded to Ritva Tikkanen, MD, PhD from Justus-Liebig Universität Gießen, Germany to create molecular consequences of SSADH mutations allowing for mutation specific therapies.  Dr. Tikkanen will be using the SSADH stem cell lines created at Boston Children’s Hospital and Harvard Medical School. Dr. Tikkann and her team will apply the success that had…