News

International Study

May 29, 2019

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…

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Natural History Study Starting

March 11, 2019

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. …

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Recruiting Patients

January 28, 2019

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…

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Consider Enrollment in the iNTD

October 31, 2018

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…

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Requesting Newborn Screen Dried Blood Spots

October 11, 2018
Newborn Screening

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…

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SSADH Awarded Grant for Natural History Study

April 10, 2018

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…

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SSADHD Backup Mice Colony

April 10, 2018

$10,000 was awarded to JEX Services to maintain a Backup Mice Colony to the current colony that exists and is in used for research at Washington State University. The backup colony will ensure the availability of SSADH Mice should something happen to the existing colony, preventing any possible lapse in research due to the lack…

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$125,000 was awarded to Phillip Pearl, MD and Mustafa Sahin MD, PhD

April 10, 2018

$125,000 was awarded to Phillip Pearl, MD & Mustafa Sahin MD, PhD at Boston Children’s Hospital and Harvard Medical School.  Our award was matched by an anonymous $175,000 donation on behalf of the Boston Children’s Hospital Trust. This project will be a continuation of our initial funding from 2015 to create SSADH stem cells and…

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