Fund Raiser for SSADH Deficiency

September 28, 2022

Wave of Hope Benefit Fund Raiser for SSADH Deficiency in honor of Amber and Haley Le Vine, two young women diagnosed with SSADH (Succinic Semialdehyde Dehydrogenase Deficiency).  It took seven years and five major hospitals and a final visit to Johns Hopkins in Baltimore, MD, in 1996 to identify that…

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SSADH EL-PFDD Meeting Proceedings  

July 13, 2022

Over a hundred patients, caregivers and doctors gathered from across the US, and from as far away as Asia, Europe and Greece to participate in the Externally Led – Patient Focused Drug Development (EL-PFDD) meeting. Additionally, we had participants join us virtually who were unable to travel because of the…

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EL-PFDD Meeting

June 6, 2022

The Externally-Led Patient-Focused Drug Development (EL-PFDD) initiative was developed for the Food and Drug Administration (FDA) to systematically obtain the patient perspective on specific diseases and their currently available treatments. EL-PFDD meetings have a format designed to engage patients and elicit their perspectives on two topic areas; 1) the most…

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Journal of Child Neurology Special Issue:

January 11, 2022

2020 Conference Proceedings of the International SSADH Deficiency / Conference Organizers: Phillip L. Pearl, MD, Melissa L. DiBacco, MD, Jean-Baptiste Roullet, PhD, and K. Michael Gibson, PhD Given the exigencies of the COVID-19 pandemic that persisted throughout 2020 and well into 2021, the planned conference for physicians, investigators, and families…

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NINDS Awards two year grant: ERT for SSADH Deficiency

January 11, 2022

Granted awarded for Developing an inducible mouse model for gene replacement therapy in Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) Drs. Henry Lee and Alex Rotenberg of Boston Children’s Hospital were awarded $221,250 for a two year period ending 12/31/2023 from the National Institutes of Neurological Disorders and Stroke (NINDS).  Below is the…

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Proceedings Published from Virtual Conference

December 14, 2021

The manuscripts from the 2020 Virtual SSADH Conference are being published on-line through the Journal of Child Neurology.  The majority of the topics are from the presentations, however when we moved from an in-person to a virtual event we were forced to scale back and eliminate some of the presentations. …

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