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

Guidelines for diagnosis and treatment of SSADHD

June 30, 2024

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

June 12, 2024

Drs. Lee & Rotenberg were awarded approximately one million dollars for the next three years to fund their continued work…

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Newborn Screening

Calling for Reform in US Newborn Screening

May 3, 2024

Alice McConnell presented at the World Orphan Drug Congress in Boston on April 25th.  We are grateful to Alice who…

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Gene Replacement Therapy Update

May 3, 2024

Drs. Henry H. C. Lee, Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L. Pearl, Mustafa Sahin, and Alexander Rotenberg teamed…

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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.