Solving Riddles Through Sequencing

Launched by MUNICH LEUKEMIA LABORATORY · Sep 15, 2021

Keywords

ClinConnect Summary

The clinical trial titled "Solving Riddles Through Sequencing" is investigating how advanced genetic testing methods can help doctors better diagnose certain types of blood cancers, such as leukemia and lymphoma, especially in cases where the diagnosis is unclear. The goal is to see if using techniques like whole genome sequencing (WGS) and whole transcriptome sequencing (WTS) can provide clearer answers than traditional diagnostic methods, which work well in most cases but leave about 10% of patients without a clear diagnosis.

To participate in this study, patients must be at least 18 years old and have had testing for a suspected blood disorder that remained unclear despite standard diagnostic procedures. This includes patients with unusual symptoms, multiple blood conditions, or those who have not responded well to treatment. Participants will undergo additional genetic testing, and their results may help shape future diagnostic approaches. It’s important to note that only certain samples that meet quality standards will be included in the study. If you or someone you know is facing a challenging diagnosis, this trial may offer a new option for clarity and understanding.

Gender

ALL

Eligibility 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 %).