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

Wave of Hope Fundraiser

September 22, 2023

Amber and Haley, are two young, inspiring women who have an extremely rare metabolic disease called Succinic Semialdehyde Dehydrogenase Deficiency…

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Voice of the Patient Report Submitted to FDA

May 5, 2023

We are happy that after hosting the Externally Led Patient-Focused Drug Development (EL-PFDD) meeting, in July of 2022, the Voice…

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Conquering a rare metabolic condition: A family, a pediatrician, and two labs join forces

May 2, 2023

Boston Children’s Hospital and Dr. Phil Pearl, have long been at the center or our mission to find a treatment…

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Long-Term Funding Agreement for Maintaining Biorepository

March 28, 2023

In January of 2023, Brad and Carolyn Hoffman we were invited to sit in on a weekly neuroscience lab meeting…

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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.