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Solving Riddles Through Sequencing

NCT05046444 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2024-12-17

No results posted yet for this study

Summary

During the last decades hematologists have excelled at improving and refining the classification, diagnosis, and thus ultimately the therapeutic decision-making process for their patients. This continuous evolution proceeded in parallel to seminal discoveries in basic science such as FISH, PCR and NGS. So far, the current WHO classification serves as reference to diagnostic decision making and is largely based on 5 diagnostic pillars: cytomorphology of peripheral blood and/or bone marrow smears, histology and immunohistochemistry of bone marrow trephine biopsies or lymph nodes, immunophenotyping, chromosome banding analysis supplemented by FISH analysis, molecular genetics including PCR and targeted panel sequencing via NGS. This leads to a swift diagnosis in 90 % of all cases. The leftover 10 % remain a challenge for hematopathologists and clinicians alike and are resolved through interdisciplinary teams in the context of specialized boards. With the advent of high throughput sequencing (mainly WGS and WTS) the possibility of a comprehensive and detailed portrait of the genetic alterations - specifically in challenging cases - has become a realistic alternative to classical methods. In SIRIUS the investigators will prospectively challenge this hypothesis to address the question of how often a better or final diagnosis can be delivered by WGS and/or WTS and if unclear cases can be efficiently resolved.

Conditions

  • Leukemia
  • Hematologic Malignancy
  • Rare Diseases
  • Refractory Leukemia
  • Refractory Lymphoma
  • Unknown Primary Tumors

Interventions

DIAGNOSTIC_TEST

Next Generation Sequencing

NON-Interventional Observation only study comparing sequencing-only approaches to classical diagnostic methods

Sponsors & Collaborators

  • Illumina, Inc.

    collaborator INDUSTRY

  • Munich Leukemia Laboratory

    lead INDUSTRY

Eligibility

Min Age
18 Years
Max Age
99 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-01-19
Primary Completion
2025-08-31
Completion
2026-10-01

Countries

  • Germany

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05046444 on ClinicalTrials.gov