Clinical Trials

Overview

About this study

The purpose of this study is to obtain punch biopsies obtained from individuals with intellectual disability (ID) associated with dihydropyrimidine dehydrogenase (DPD) deficiency and unaffected related controls (e.g., biological parents and/or siblings), to derive patient-specific reprogrammed cells, characterize reprogrammed cells and differentiated neural tissues by comparing molecular genetics and cellular phenotypes through comprehensive gene expression profiles, proteomic analysis, metabolic measurements, and physical measurements, and determine if changes in neural differentiation and/or function can be ameliorated through correction of DPD deficiency, enzyme replacement therapy, or treatment with other compounds.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Participating Mayo Clinic locations

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