A Study of Dihydropyrimidine Dehydrogenase Function in Neural Development and Function

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. If you need assistance understanding the eligibility criteria, please contact the study team.

Inclusion Criteria:

  • Individuals age 0-100 yrs. with DPD deficiency and symptoms of ID
  • Unaffected adult biological parents and/or siblings

Exclusion Criteria: 

  • Subjects with allergy to subcutaneous lidocaine, bupivacaine, or epinephrine.

Participating Mayo Clinic locations

Study statuses change often. Please contact us for help.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Robert Diasio, M.D.

Open for enrollment

Contact information:

Steven Offer Ph.D.

(507) 266-4995

Offer.Steven1@mayo.edu

More information

Publications

Publications are currently not available

Study Results Summary

Not yet available

Supplemental Study Information

Not yet available

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CLS-20306905

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