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About Us

The SSADH Association is a voluntary, not-for-profit, 501(c) (3) organization dedicated to helping children and families affected by a neurotransmitter disorder known as Succinic Semialdehyde Dehydrogenase Deficiency or SSADH.

The SSADH Association is committed to those affected through education, advocacy and research.  The SSADH Association works with families, physicians, researchers and other health care professionals by: 

  • Providing patients and families with information about SSADH
  • Increasing public awareness about SSADH
  • Establish and coordinate a communication network among affected SSADH families
  • Promote public and private support for SSADH


 
SSADH is an ultra-rare neurometabolic disorder characterized by lack of one of two enzymes involved in the breakdown of GABA, the major inhibitory neurotransmitter in the brain.  GABA controls the movements of humans, and when it is imbalanced, major neurological abnormalities occur. With SSADHD, neurotransmitters in neurons are blocked from signaling one another correctly.


Due to the enzyme deficiency in SSADH patients, an unusual compound accumulates in the body, namely 4-hydroxybutyric acid or gammahydroxybutyric acid (GHB). The GHB accumulation may interfere with the patient’s ability to walk, speak, concentrate and process information.


Research Update

We are grateful to share that the SSADH Association is currently funding research at Washington State University (WSU), Boston Children's Hospital / Harvard Medical School, and Justus-Liebig University Gieben, Germany.  

At the start of 2019 we kicked off the SSADH Natural History Study which has enrolled a group of 20 patients within the United States and 10 international patients for a period of five years.  The Natural History Study will help to map the longitudinal effects of the disorder, predict the severity and build the SSADH Biorepository.  We will meet our enrollment requirements for the Natural History study if we are able to add 20 additional patients into the international study.

 

Boston Children’s Hospital and Harvard Medical School is working to develop an In Vitro Model of SSADHDeficiency, using iPSC – Durived Neurons.  This In Vitro Model will then be used to support the unbiased screening of novel therapeutic approaches to finding treatments for SSADH.

 

Research doctors from Justus-Liebig Universität Gießen, Germany have been working to create molecular consequences of SSADH mutations allowing for mutation specific therapies.  Using their initial results, Ritva Tikkanen, MD, PhD is now in the final negotiations with a pharmaceutical company to secure funding to help sustain their research.

 

In an effort to eliminate the costly testing and the diagnostic odyssey which it currently takes for a confirmed diagnose of SSADH, we are working to create a dried blood spot card that can help when a patient’s symptoms match those of SSADH.  Ideally, this could be a large step towards a first- tier screening method for SSADH, employing metabolites that are currently commonly measured.

 

We continue to maintain a Backup Mice Colony to ensure the availability of SSADH Mice should something happen to the existing colony at Washington State University, preventing any lapse in research due to the lack of SSADH mice.

 

Additionally, the Center for Disease Control and Prevention (CDC) has issued an ICD-10-CM code specifically for SSADH, allowing medical professionals to code a patient visit for SSADH.



For more information about the SSADH Association, please visit us at www.ssadh.net