Research Investigations of Cellular Stress in Development and Diseases

Eunice Kennedy Shriver National Institute Of Child Health & Human Development

Investigators

Linked publications & trials

Abstract

We continue to develop laboratory reagents, characterize participant-derived cellular experimental models, and establish collaborations to address the overall objective of understanding the role of cellular stress pathways, such as the integrated stress response, in human diseases such as CLN3 and MEHMO syndrome. We continue to conduct extensive characterization of the phenotype of individuals with variants in CLN3, and establish a biorepository of corresponding biosamples (CSF, blood, urine) [NCT03307304; https://clinicaltrials.gov/study/NCT03307304]. To date, our study contains the largest cohort of individuals with CLN3-related disorders extensively characterized and prospectively followed with corresponding biosamples collected. We investigate the development and confirmation of potential fluid biomarker candidates in our laboratory, as well as through collaborations with extramural investigators. We work with family support organizations and pharmaceutical entities in developing additional therapeutic trials for CLN3. Applying the results from and experiences with the CLN3 projects, we initiated similar efforts to study MEHMO syndrome with a natural history study of eIF2-related conditions [NCT06019182; https://clinicaltrials.gov/study/NCT06019182]. The efforts also involve collaborative MEHMO and eIF2-related pathways research investigations using iPSC and mouse models.