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A Study Of POLR2-related Neurodevelopmental Disorder (NEDHIB)

Overview

About this study

The purpose of this study is to define the natural history of NEDHIB, including the spectrum, frequency, and longitudinal evolution of clinical features, management, and outcomes.

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:

  • Clinically confirmed POLR2 (A or B) genetic mutation

 

Exclusion Criteria: 

  • No clinically confirmed POLR2 genetic mutation

  • Patient or family members unable/unwilling to provide informed consent or assent.

  • Unable or unwilling to complete blood draw for the research study

Note: Other protocol defined Inclusion/Exclusion Criteria may apply.

Eligibility last updated 07/20/2026. Questions regarding updates should be directed to the study team contact.

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

Rochester, Minn.

Mayo Clinic principal investigator

Radhika Dhamija, M.B.B.S.

Contact us for the latest status

More information

Publications

Publications are currently not available

More about research at Mayo Clinic

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CLS-20611677

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