SSADH Deficiency becomes the topic for the Boston Children’s Hospital Metabolism Grand Rounds.
On Tuesday November 28th Dr. Phillip L. Pearl gave a talk, titled: Results of the SSADH Deficiency Natural History Study. This talk included a 1) Review of the clinical, imaging, and neurophysiologic outcomes of the 5-year SSADHD natural history study. 2) Correlate longitudinal changes of the course of the disorder with GABA activity…
Read MoreWave of Hope Fundraiser
Amber and Haley, are two young, inspiring women who have an extremely rare metabolic disease called Succinic Semialdehyde Dehydrogenase Deficiency (SSADH); there are only 400 cases of SSADH worldwide. Amber and Haley were the fifth and sixth cases to be diagnosed with SSADH in the USA. Every day of their…
Read MoreVoice of the Patient Report Submitted to FDA
We are happy that after hosting the Externally Led Patient-Focused Drug Development (EL-PFDD) meeting, in July of 2022, the Voice of the Patient report has been submitted to the FDA’s Center for Drug Evaluation and Research Division of Neurology Products, Office of Neuroscience, for inclusion in the framework used to…
Read MoreConquering a rare metabolic condition: A family, a pediatrician, and two labs join forces
Boston Children’s Hospital and Dr. Phil Pearl, have long been at the center or our mission to find a treatment for SSADH Deficiency. Pearl teamed up with Mike Gibson, PhD. about 15 years after he originally described SSADH Deficiency in a patient in 1983. Although, June of 2023 will bring…
Read MoreLong-Term Funding Agreement for Maintaining Biorepository
In January of 2023, Brad and Carolyn Hoffman we were invited to sit in on a weekly neuroscience lab meeting with Alex Rotenberg’s MD, PhD and the team from Boston Children’s Hospital (BCH) / Harvard Medical School. It was beyond exciting to hear a dozen brilliant scientists talking about SSADH…
Read MoreMouse Model Funding Grant Awarded
The SSADH Association has granted the funding request from Dr. Henry Lee and Dr. Alex Rotenberg of Boston Children’s Hospital (BCH) / Harvard Medical School seeking nine month interim funding of $48,990 to keep the gene replacement therapy project on the SSADH inducible mouse model moving forward until their next…
Read More