Transient myeloproliferative disease in children with Down syndrome Part A: Screening newborns with Down syndrome for TMD Part B: Treatment and follow-up of children with Down syndrome and TMD

Completed

• Conditions: transient myeloproliferative syndrome; 10083624; 10024324; 10028920; Down syndrome acute myeloid leukemia

• Registration Number: NL-OMON31343
• Lead Sponsor: Erasmus MC, Universitair Medisch Centrum Rotterdam

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 13 May 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 811

Inclusion Criteria

Inclusion criteria part A:
- Newborns with Down syndrome born in the Netherlands
- Diagnosis between 01-07-2007 and 01-07-2012
- Age at peripheral blood sampling below 4 weeks
- Patients with demonstrable transient myeloid leukemia elsewhere are also eligible, even if no blasts can be detected in the peripheral blood
- signed informed consent;Inclusion criteria part B:
- proven TMD
- Down syndrome
- detectable GATA1-mutation in leukemic cells
- age below 3 months
- infromed consent

Exclusion Criteria

Key exclusion criteria, part A:
- no consent,
- no confirmation of diagnosis of Down syndrome,
- complications which prohibit the analysis of a peripheral blood sample.;Key exclusion criteria, part B:
- complications or underlying disease that interferes with the possibility to treat
- presence of another hematological disease

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>- to estimate the population-based frequency of transient leukemia in children<br /><br>with Down syndrome<br /><br>- to describe the percentage of children with TL who develop later on leukemia,<br /><br>and whether treatment is able to reduce this progression to leukemia<br /><br>- to compare minimal residual disease data obtained with flowcytometry and PCR<br /><br>- to describe the number of children being GATA1-PCR negative at the end of<br /><br>week 12</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>- to study whether children with DS who later develop ALl had a a detectable<br /><br>pre-leukemic clone in their neonatal blood sample<br /><br>- to study genetic aberrations involved in the progression from TMD to DS ML<br /><br>- to study whether DS ML can occur in children without TMD<br /><br>- to describe the clinical and hematological variables of children with and<br /><br>without TMD</p><br>