NEWS

I want to thank you again for your letters of support for this NIH grant application submitted by Drs. Jean-Baptiste Roullet and Mike Gibson (Washington State University) and his colleagues, Dr. Phillip Pearl, (Boston Children’s Hospital), Dr. Thomas Opladen (University Children’s Hospital, Heidelberg, Germany), Dr. Jeff Krischer (University of South Florida). They received over 50 letters of support, representing 58 patients with SSADH. Thanks to this overwhelming support, the NIH funded this project Aug. 1, 2018 for a period of 5 years.

To recap, this study plans to enroll and track more than 50 patients with SSADH over a period of 5 years. Some (approx. 25, USA patients only) will be followed at Boston Children’s Hospital, under the guidance of Dr. Pearl. The others will be recruited and followed by investigators of the International Working Group on Neurotransmitter Related Disorders (iNTD; https://intd-registry.org/) under Dr. Opladen’s guidance, and by several Metabolic experts throughout the world. The goal is to collect clinical observations and biospecimens (blood, urine, saliva, hair and stool, and others) to understand how the disease progresses over time and find better markers useful for early diagnosis (newborn screening) and therapeutic monitoring. USF Dr. Krischer, one of the world’s most recognized epidemiologist and statistician, will oversee data analysis.

At this time, the project is working on study approval via Ethics Board documents, a necessary step before any study activity, including enrollment, could begin. Thus, the research team does not realistically expect to enroll patients until early 2019. Nonetheless, I wanted to alert all of you to the eventual start of the study, hoping you will keep in mind the opportunity to participate and contribute to SSADH research.

On a final and important note, enrollment in the study will require confirmed genetic SSADH diagnosis. Some of you may not have such confirmation. Do not be concerned about this, as the Association and the researchers will help with mutation analysis, should you decide to participate in the study. Do not hesitate to contact me if you have questions about the study. I will personally keep you updated on study readiness and alert you as soon as the study team is ready to enroll!