Improving diagnosis of hematological diseases using advanced sequencing techniques
Testing the Diagnostic Supremacy of Sequencing-only Approaches in Hematologic Malignancies: an Observational Trial
This study is testing new genetic sequencing methods to help doctors better diagnose blood disorders in patients who currently have unclear or unusual symptoms.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 18 Years to 99 Years |
| Sex | All |
| Sponsor | Munich Leukemia Laboratory Industry-sponsored |
| Locations | 1 site (Munich) |
| Trial ID | NCT05046444 on ClinicalTrials.gov |
What this trial studies
This observational study aims to enhance the diagnostic accuracy for patients with hematological disorders, particularly those with unclear diagnoses or unusual clinical presentations. By utilizing novel high throughput sequencing methods, such as whole genome and whole transcriptome sequencing, the study seeks to provide a more detailed genetic profile of tumor samples. The goal is to address the 10% of cases that remain unresolved under current diagnostic standards, thereby improving patient care through better classification and treatment decisions.
Who should consider this trial
Good fit: Ideal candidates include patients with suspected hematological disorders who have unclear diagnoses or unusual clinical courses.
Not a fit: Patients whose samples are not suitable for advanced diagnostic techniques or who do not meet the inclusion criteria may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to more accurate diagnoses and tailored treatments for patients with complex hematological conditions.
How similar studies have performed: Other studies utilizing high throughput sequencing have shown promise in improving diagnostic accuracy for complex diseases, suggesting a potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patients having been investigated with a suspected hematological disorder and: * Having unclear diagnosis after internal routine diagnosis * Unusual clinical course * Unusual r/r status or non-responder * Multiple parallel hematological conditions * Difficult/rare therapy associated/secondary neoplasms * Current diagnostic workup is not satisfactory in terms of (1) accuracy (2) clinical behavior * Only samples of patients min. 18 years of age will be used * Material with a minimum of 20% tumor content in bone marrow or peripheral blood sample * Patient´s informed consent Exclusion Criteria: * Sample is not fit for state-of-the-art diagnosis, fails initial quality control. For quality insurance we will exclude samples with wrong anticoagulant sent. Samples with damage due to meteorological reasons (freeze-thaw damage or elevated temperature) will be excluded. * Samples with to scarce material jeopardizing routine gold-standard diagnosis will be excluded (tumor content \< 20 %).
Where this trial is running
Munich
- MLL Munich Leukemia Laboratory — Munich, Germany (Recruiting)
Study contacts
- Study coordinator: Torsten Haferlach, MD
- Email: torsten.haferlach@mll.com
- Phone: +49 (0)89 99017-100
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.