NEWS

Natural History Study – Recruiting Patients

The Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) Natural History Study Group of Drs. Gibson, Pearl, DiBacco, Krischer, Roullet, Opladen and Jeltsch, are officially opening their National Institutes of Health (NIH) – funded clinical study of patients with SSADH for enrollment.

The goal of the research team is to pioneer the first-ever description of the natural course of the disorder, find blood markers that will help in predicting disorder progression, monitoring treatment, and develop a newborn screening test to help end the challenging process for SSADH being diagnosed. Importantly, this study will help pave the way for FDA (Food and Drug Administration) approval of future medications to treat SSADH. Participation is limited but being offered at multiple sites, including Boston Children’s Hospital in the United States as well as many other locations around the world. Participation is open to any patient with a confirmed diagnosis of SSADH, regardless of age and gender.

All are strongly encouraged to participate in the study. Simply email Dr. DiBacco or Jeltsch, their contact information is provided below, to get more information or to enroll. Your primary care doctor may also be able to help put you in contact with the research team.

The SSADH Association is fully supporting this study. We believe this study is a unique opportunity to learn more about SSADH, raise awareness about SSADHD among doctors and other health care professionals, and provide a solid foundation for future clinical trials.

Additionally, this study will give you the chance to interact with the most experienced and knowledgeable SSADH medical professionals in the world. You will get a better understanding of SSADH and how SSADH is affecting your child. Please consider participation in this important study.

For more information or to enroll in the study please email:

Study Coordinator:  Dr. Melissa DiBacco by email at: Melissa.Dibacco@childrens.harvard.edu

Study Coordinator:  Dr. Kathrin Jeltsch by email at: Kathrin.Jeltsch@med.uni-heidelberg.de

Feel free to email me with any additional questions that you might have at: choffmanwi@aol.com