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

SSADH EL-PFDD Meeting Proceedings  

July 13, 2022

Over a hundred patients, caregivers and doctors gathered from across the US, and from as far away as Asia, Europe…

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EL-PFDD Meeting

June 6, 2022

The Externally-Led Patient-Focused Drug Development (EL-PFDD) initiative was developed for the Food and Drug Administration (FDA) to systematically obtain the…

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Journal of Child Neurology Special Issue:

January 11, 2022

2020 Conference Proceedings of the International SSADH Deficiency / Conference Organizers: Phillip L. Pearl, MD, Melissa L. DiBacco, MD, Jean-Baptiste…

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NINDS Awards two year grant: ERT for SSADH Deficiency

January 11, 2022

Granted awarded for Developing an inducible mouse model for gene replacement therapy in Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) Drs. Henry…

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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.

 

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.