Epidemiology and characterization of childhood MDS and JMML
Official title: Prospective Non-randomized Multi-center Study for Epidemiology and Characterization of Myelodysplastic Syndromes (MDS) and Juvenile Myelomonocytic Leucemia (JMML) in Childhood
Run by University Hospital Freiburg · NCT00662090 · Data updated 2026-11-12
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 |
|---|---|
| Ages | Any age to 17 Years |
| Sex | All |
| Enrollment | 260 (estimated) |
| Sponsor | University Hospital Freiburg Academic / other |
| Locations | 1 site (Freiburg im Breisgau, Baden-Wurttemberg) |
| Status | Recruiting |
| Started | April 2010 |
| Main results expected | December 2027 |
| Study ends | December 2027 |
| Registry record updated | May 4, 2026 |
| Trial ID | NCT00662090 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a 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.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
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 it's running
-
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
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Depleting specific immune cells in stem cell transplants for blood cancers
This study is testing if removing certain immune cells during stem cell transplants can help children and young adults with blood cancers have better outcomes and fewer complications.
-
CIML NK cell infusion for relapsed myeloid disease after stem cell transplant
This trial tests whether giving cytokine‑induced memory‑like (CIML) natural killer cells together with low‑dose IL‑2 can help adults (≥18) and teens (≥12) whose AML, MDS, MPN, or JMML has returned after a stem cell transplant.
-
Using CD45RA Depleted Stem Cells to Improve Immune Recovery After Transplant
This study is testing if using special stem cells can help patients with acute leukemia recover their immune system faster after a transplant and reduce the risk of complications.
-
Age-stratified conditioning regimens to improve outcomes in haploidentical stem cell transplant for myelodysplastic syndrome
This study tests two conditioning regimens in adults with MDS undergoing haploidentical stem cell transplant to see how age affects outcomes over one year.
-
FXS0683 in relapsed or refractory blood cancers
This first‑in‑human study tests FXS0683 in adults with relapsed or refractory B‑cell lymphoma, AML, MDS, or ALL to see if it is safe, how the drug behaves in the body, and whether it shows any antitumor activity.
-
Brain network changes in adults with anemia measured by fNIRS
This project will use functional near-infrared spectroscopy (fNIRS) to see if brain network connections are altered in adults aged 18–65 who have anemia.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.