News

Dried Bloodspots Facilitates SSADH Newborn Detection

August 1, 2019

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,…

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Dr. Pearl Joins NORD Board of Directors

July 23, 2019
Phillip L. Pearl, MD

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…

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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…

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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…

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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) –…

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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…

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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…

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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,…

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$12,000 was awarded to Ritva Tikkanen, MD, PhD

April 10, 2018

$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…

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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…

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