A Natural History and Outcome Measure Discovery Study of Developmental and Epileptic Encephalopathies
Study ID: STU-2019-1561
Summary
This is a single center natural history study, both retrospective and prospective, of patients with a molecularly confirmed diagnosis of SLC6a1 Deficiency Disorder as defined by a single pathogenic or likely pathogenic variant of SLC6a1 or biallelic presumed pathogenic. We plan to enroll 10-20 patients in each cohort. We will review the participant's medical record for historical information and record clinical data in a secured database. Prospectively, we will perform a neurological exam, collect biospecimens, and assess motor and adaptive functioning at least annually for up to five years.
This study is designed to investigate the clinical characteristics and natural history of a rare form of Developmental and epileptic encephalopathy (Dee), SLC6a1 Deficiency Disorder. We aim to follow patients with a molecularly confirmed diagnoses of Dee historically and longitudinally to evaluate epidemiological characteristics, clinical course, and identify potential outcome measures which may be used in future clinical trials. Retrospective clinical data collection will include medical history and physical exam, biochemical analyses, brain imaging, electrophysiological measures, and neuropsychological assessments, as available. We will prospectively collect biological samples for biochemical analysis of clinically relevant metabolites using the Simons Searchlight consent and lab collection kits.. additionally, we will perform standardized medical/neurological examinations, developmental assessments, electroencephalogram (eeG) and collect quality of life measures and develop disease-specific clinical severity rating scales.
