Our Mission
The SSADH Association is a voluntary, not-for-profit, 501(c) (3) organization dedicated to helping children and families affected by an ultra-rare neurometabolic disorder known as Succinic Semialdehyde Dehydrogenase Deficiency or SSADH.
The SSADH Association is committed to those affected with this neurotransmitter disease through education, advocacy and research.
News & Updates
Celebrating Rare Disease Day
Wisconsin mother creates SSADH Association after her son is diagnosed with neuro disorder. Spectrum News Wisconsin | BY Abbey Taylor |…
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Dr. Lee’s Podcast on Gene Therapy for SSADH Deficiency
Dr. Henry Lee, Ph.D., Boston Children’s Hospital, F.M. Kirby Neurobiology Center joins the Journal of Inherited Metabolic Disease (JIMD) podcast.…
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SSADHD Presentation at PAME
Charity Adams (Mom to Bond), Dr. Phil Pearl and Dr. Itay Tokatly Latz spoke at the 2024 PAME (Partners Against…
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Natural History Study Expanded to 10 Years
We are thrilled to announce that the grant for the SSADH Deficiency Natural History Study was renewed by the National…
Read MoreOver a 100 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 logistical challenges of traveling with their affected children.
The PFDD initiative was developed for the FDA to systematically obtain the patient perspective on specific diseases and their currently available treatments.
At the PFDD meeting the families highlighted the most significant symptoms of SSADH Deficiency and shared stories to reflect the impact that this disorder has on the patient’s daily life while emphasizing the lack of treatment options. The finding are summarized in
the Voice of the Patient report.
Video Recording From July 8, 2022 EL-PFDD Meeting
We are happy to provide the videos below of the
SSADH EL-PFDD Meeting, for those who were unable
to attend in person.
SSADH Association Welcome and Morning Session 1
EL-PFDD Meeting, Video 1 of 4.
Morning Session 2
EL-PFDD Meeting, Video 2 of 4.
Afternoon Session 1
EL-PFDD Meeting, Video 3 of 4.
Afternoon Session 2
