2016 Symposium Group photo

Making a Difference

The SSADH community is made up of families, scientists and doctors from around the world working together to make a better life for this very special patient population.

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

Dr. Rotenberg is named 2025 Harrington Scholar-Innovator Award recipient.

June 11, 2025

Congratulations to Alexander Rotenberg, MD, PhD. for being named one of ten 2025 Harrington Scholar-Innovator Award recipient by the Harrington…

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Celebrating Rare Disease Day

March 3, 2025

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

February 20, 2025

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

January 15, 2025

Charity Adams (Mom to Bond), Dr. Phil Pearl and Dr. Itay Tokatly Latz spoke at the 2024 PAME (Partners Against…

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Over 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

EL-PFDD Meeting, Video 4 of 4.