Characterisation of Paediatric Myelodysplasic Syndromes

 Myelodysplasic Syndromes / Posted 2 years ago

This research project will study a group of rare blood disorders in children, called Paediatric Myelodysplastic Syndromes (MDS).

Paediatric MDS is characterised by failure of normal blood cells production. Without treatment these syndromes are usually fatal and can lead to leukaemia.

The aim of this project is to improve current understanding of the molecular pathways that lead to the disease development; identify all the disease related genetic abnormalities; document the natural history of the disease; create correlations between the clinical presentations and genetic defects and create targets for future therapies .Children with a diagnosis of Paediatric MDS from across all specialist paediatric haematology centres in the UK will be invited to participate in this project. From the study of these cases we aim to built a comprehensive picture of paediatric MDS, which is something that has not been achieved so far. The study will record how the disorders present, all their clinical characteristics; laboratory tests results, how the disorders progress with time and the response of the different subgroups of patients to the current treatments.

The samples collected will be in the form of blood, bone marrow, nail clippings, skin biopsies, saliva and hair follicles. These samples will be tested for all genetic abnormalities that have been previously described in different types of MDS. In cases that no known genetic abnormality is detected, further genetic testing(called whole genome sequencing) will be performed, after appropriate consent, in order to identify new genetic defects linked with MDS.

The study aims to provide an accurate diagnosis for each family, but also to select the most appropriate treatment for each case. The behaviour of blood cells from children with MDS will be studied using state-of-the-art technology, with the objective of identifying the molecular pathways that lead to the disease development. This will help the study to identify the cell from which the disease originates and target this in the future.

  • Inclusion Criteria : 1. Age from birth to 21 years 2. Probable diagnosis of MDS ie a. Sustained (>3 months) unexplained cytopenia b. Bi/trilineage morphological myelodysplasia c. Acquired clonal cytogenetic abnormality in haematopoietic cells d. Bone marrow blasts >5% 3. Children with syndromic MDS or suspected syndromic MDS 4. Children with secondary MDS: chemotherapy, radiotherapy, toxic agents 5. Children with IBMFS and features of myelodysplasia 6. Children with suspected familial MDS 7. Denovo MDS (hypocellular or hypercellular ) 8. Juvenile Myelomonocytic Leukaemia 9. MDS/MPS 10. MDS with systemic disease 11. Children with Downs MDS
  • Exclusion Criteria : 1. Patients who do not fulfil inclusion criteria 2. Patients who have not consented for the study 3. Children with known CBF AML translocations
  • Study start date : 01/09/2015
  • Study end date : 31/05/2025
  • Wales-Based Study Contact : PENDING
  • Principal Investigator : Dr Anuoama Rao
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