For Researchers

(TBRS) and DNMT3A Patient Registry

For Researchers

The TBRS and DNMT3A Patient Registry collects disease-specific natural history data about individuals with TBRS, HESJAS, and DNMT3A-related disorders, with the goal of improving the understanding of these disorders, and informing treatment development. Registry questionnaires were built from common data element standards and cover the following topics:

  • Socio-demographics
  • Medical history
  • Diagnostics
  • Treatment
  • Disease progression
  • Quality of life
  • Clinical trial participation

Please submit a request here. Access to TBRS and DNMT3A Patient Registry data is contingent upon project approval by the TBRS Community Medical Advisory Board.