A Study of Dihydropyrimidine Dehydrogenase Function in Neural Development and Function


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.

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 the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Steven Offer, Ph.D.

Open for enrollment

Contact information:

Steven Offer Ph.D.

(507) 266-4995


More information


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