Consider Enrollment in the iNTD

We are close to the beginning of an NIH-funded study that will carry out a 5-year Natural History of SSADH (succinic semialdehyde dehydrogenase deficiency). This study will include clinical data (imaging, electrophysiology, neuropsychiatric evaluation, etc) and biomarker data (blood, urine, CSF, saliva, DNA, etc).

Primary intake site for patients in the USA will be at Boston Children’s Hospital, under the direction of Dr. Phillip Pearl.
It is likely that this site will only follow patients from the USA.  However, we hope to include cross-sectional and longitudinal data on patients seen around the world, in order to increase the power of this study. Our primary European partner is Dr. Thomas Opladen, University of Heidelberg, who is the Director of the iNTD (International Working Group on Disorders of Neurotransmitter Metabolism;

We encourage you to consider enrollment of the iNTD. This would make the transfer of patient data between iNTD and our study facile, and benefit both sources.  The iNTD group already has 15 enrolled patients with SSADH. The easiest way to enroll is to contact Kathrin Jeltsch at the iNTD directly by email at: