Fund Raiser for SSADH Deficiency
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…
Read MoreSSADH EL-PFDD Meeting Proceedings
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…
Read MoreEL-PFDD Meeting
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…
Read MoreJournal of Child Neurology Special Issue:
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…
Read MoreNINDS Awards two year grant: ERT for SSADH Deficiency
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…
Read MoreProceedings Published from Virtual Conference
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. …
Read More