Predicting and preventing Leukaemia in children with Down Syndrome – Prep 21 Study

The PreP 21 Study is a NSW state-wide multicentre trial for children with Down syndrome, developed at the Kids Cancer Centre, Sydney Children’s Hospital. 

The study is run in collaboration with the Children’s Cancer Institute Australia (CCIA), located at the University of NSW.

Funding for the study is kindly supported by the Steven Walter Children’s Cancer Foundation.

Research Background

Children with Down syndrome have an increased risk of developing childhood leukaemia compared to other children. Between 5-10% of children with Down syndrome will develop transient myeloproliferative disorder (TMD), a pre-leukaemia, of which 25% will go on to develop acute megakaryoblastic leukaemia (AMKL).

Studies show that mutations (a change in DNA structure) of the GATA-1 gene are involved in the development of leukaemia in children with Down syndrome.

The factors which lead to some children developing AMKL and some children recovering from TMD without any therapy are unknown. This study will assess genetic factors that may provide the clue to the development of AMKL in children with Down syndrome. With this unique study model, we hope to develop a novel genetic detection test for GATA-1 gene mutations, and to apply this knowledge to other models of childhood leukaemia.

Inclusion Criteria

• Any child aged between 0 and 2 years with a diagnosis of Down syndrome or mosaic Down syndrome.
• Parents or legal guardians have signed the written consent form.

Study Team and Contact Details

Principal Investigator

Professor Glenn Marshall – 02 9382 1721

Co-Investigators

Dr Draga Barbaric