Epidemiology and characterization of childhood MDS and JMML
Prospective Non-randomized Multi-center Study for Epidemiology and Characterization of Myelodysplastic Syndromes (MDS) and Juvenile Myelomonocytic Leucemia (JMML) in Childhood
This project will test whether a standardized review of cell appearance plus detailed genetic tests helps improve diagnosis and classification for children and adolescents with MDS or JMML.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 260 (estimated) |
| Ages | N/A to 17 Years |
| Sex | All |
| Sponsor | University Hospital Freiburg Academic / other |
| Locations | 1 site (Freiburg im Breisgau, Baden-Wurttemberg) |
| Trial ID | NCT00662090 on ClinicalTrials.gov |
What this trial studies
This observational protocol collects standardized morphological, cytogenetic, and molecular data from children and adolescents with confirmed MDS or JMML at the University Hospital Freiburg. The protocol applies high-resolution techniques including array-CGH to detect subtle gains and losses and mFISH to identify cryptic translocations and better define breakpoints. Investigators will use this standardized diagnostic approach to describe the frequency of disease subtypes and specific cytogenetic/molecular abnormalities. Clinical follow-up data will also be collected to report survival, relapse rates, and outcomes after hematopoietic stem cell transplant.
Who should consider this trial
Good fit: Children and adolescents under 18 with a confirmed diagnosis of MDS or JMML (including Down-syndrome–associated myeloid leukemia in patients older than 6 years) whose caregivers can provide informed consent.
Not a fit: Patients without a confirmed diagnosis, children under 6 with Down-syndrome–associated myeloid leukemia, those who decline consent, or those unable to travel to the study center are not eligible and would not benefit.
Why it matters
Potential benefit: If successful, the work could allow earlier and more accurate diagnosis and better genetic risk grouping to guide therapy and transplant decisions for affected children.
How similar studies have performed: Genomic cytogenetic techniques such as array-CGH and mFISH are established tools that have improved detection of chromosomal abnormalities in hematologic malignancies and have been applied successfully in prior pediatric and adult MDS work.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Written informed consent by the caretakers and whenever possible the patient's assent. * Confirmed diagnosis of MDS or JMML (morphology, cytogenetics) * Myeloid leukemia of Down syndrome (patients aged \> 6 years). * Age less than 18 years Exclusion Criteria: * Denied informed consent and/or assent by caretakers/patient. * Myeloid leukemia of Down syndrome (patients \< 6 years). * Participation in another study within the last 4 weeks (except for therapy optimizing studies in cancer or bone marrow failure disorders and studies in diagnostics).
Where this trial is running
Freiburg im Breisgau, Baden-Wurttemberg
- University Hospital of Freiburg — Freiburg im Breisgau, Baden-Wurttemberg, Germany (Recruiting)
Study contacts
- Principal investigator: Charlotte M. Niemeyer, M.D. — University of Freiburg
- Study coordinator: Charlotte M. Niemeyer, M.D.
- Email: charlotte.niemeyer@uniklinik-freiburg.de
- Phone: 49-761-270
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.