Improving diagnosis of hematological diseases using advanced sequencing techniques

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.