News

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…

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…

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…

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. …

The Le Vine family held a Wave of Hope – SSADH Fall Harvest Beach fundraiser on Sunday, October 17 from 1 – 5 pm at the Columns Restaurant in Avon overlooking the ocean. The popular band Spare Parts is played and there was a gift auction as well. The even…

Announcement and Invitation on behalf of Lil’ Brave One:   Rare Neurotransmitter Diseases: from Novel Research to Focused Treatments through iNTD Network Strengthening and Patient Empowerment Save the date September 29th 2022 – October 1st 2022 We are pleased to announce that the conference on rare neurotransmitter diseases will take…