Boston Children's Hospital

Boston Children's ReNU Syndrome Clinic: Research & Innovation

The ReNU Syndrome Clinic at Boston Children's Hospital is running a natural history study of people with RNU-related disorders, including ReNU2. A natural history study follows people over time to learn how a condition affects them. The study is led by Dr. Maya Chopra, MBBS, FRACP, at the Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center.

• How to Enroll

  Email the clinic at RNU.NEXTGen@childrens.harvard.edu to learn more or to join.

• Overview

  The study aims to:

  • Better understand neurodevelopmental disorders, including their symptoms and the specific genetic changes involved.

  • Find ways to measure whether future treatment trials are working.

• What's Involved

  • 3 annual visits with the study team, in person or virtual

  • Neurobehavioral assessments (looking at development, learning and behavior)

  • Questionnaires

  • Sharing medical records

  • Optional blood and/or skin samples

• Location

  Boston Children's Hospital, Boston, MA. Visits can be in person or virtual.

• Why Participate

  Information from this study will help researchers understand ReNU2 and related conditions, and prepare for future treatment trials. The study team notes that there is no direct benefit to participants.

• Who Can Participate

  • People of all ages

  • People with a gene change in RNU2-2, RNU4-2, or another RNU-related gene

• Contact Information

  ReNU Syndrome Clinic, Boston Children's Hospital

  • Email: RNU.NEXTGen@childrens.harvard.edu

  • Phone: 617-355-5291

  • International: +1-617-355-5209