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
SSADHD: a metabolic and genomic approach to diagnosis
Genomic sequencing offers an untargeted, data-driven approach to genetic diagnosis; however, variants of uncertain significance often hinder the diagnostic process.…
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Guidelines for diagnosis and treatment of SSADHD
The guidelines were formed by an “SSADHD Consensus Group” including 23 participants from 19 institutions representing 11 countries from four…
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One Million Dollars awarded to SSADHD Gene Therapy
Drs. Lee & Rotenberg were awarded approximately one million dollars for the next three years to fund their continued work…
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Calling for Reform in US Newborn Screening
Alice McConnell presented at the World Orphan Drug Congress in Boston on April 25th. We are grateful to Alice who…
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
