ABAT

Research Collaboration

Dr. Pearl is currently working on an IRB approved study involving patients with GABA-T deficiency. The information will provide clinicians and investigators with important data, such as patient history, signs and symptoms, treatments, and standards of care. The study is completely voluntary and would provide researchers with invaluable information!

The study is aims to create a central source of clinical information on patients with the different neurotransmitter disorders, including GABA-T deficiency. For this study we ask that patients go to the link below and complete a quick 15 minute survey. Every 6 months we send out a short follow up survey to analyze changes in symptomology over time as patient’s age, to capture information on the natural history of the disorder. The link to the survey is: https://redcap.tch.harvard.edu/redcap_edc/surveys/?s=DNNYPKM8RF    

Our team is also working on the collection of bio-specimens and blood spots to add to a bio-repository. We hope to learn more through the questionnaire and testing bio-specimens to understand GABA-T deficiency better.