UNIVERSAL GENETIC TESTING OF PATIENTS WITH HEMATOLOGICAL MALIGNANCIES (UGT)

NCT ID: NCT06843291

Last Updated: 2025-02-24

Basic Information

• Recruitment Status: NOT_YET_RECRUITING
• Clinical Phase: NA
• Total Enrollment: 100 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2025-02-28
• Study Completion Date: 2029-02-28

Brief Summary

We propose to perform NGS and OGM with DNA extracted from bone marrow (BM; site of cancer) and NGS on skin fibroblast DNA (proxy for germline) on all patients with hematologic malignancies (HM) who undergo a standard-of-care BM biopsy at Georgia Cancer Center/Wellstar MCG Health. Simultaneous 4 mm punch skin biopsy for fibroblast culture will be obtained at the planned puncture site of the BM biopsy. The bone marrow biopsy and aspirate are already part of the patient's scheduled medical evaluation and the punch biopsy of the skin is the only additional procedure involved in the study.

Detailed Description

Genetic data is transforming the understanding and management of cancers of all types.

The detection of pathogenic germline genetic variants (mutations) underlying the formation of cancer is important because the genetic information can inform optimal treatment for individuals with cancer and can be used to modify cancer risk in family members who are carriers for the variant but who have not developed cancer. Germline next generation sequencing (NGS) has only recently begun to be used to assess for hereditary risk in hematological malignancies (HM), and in particular beyond myeloid HMs. NGS detects small genetics changes such single base substitutions and small deletions, whereas a new technique called optical genome mapping (OGM) is able to detect large structural genetic changes in tumor DNA. OGM is well established here in Molecular Pathology but has only recently been applied to the study of HMs.

We propose to perform NGS and OGM with DNA extracted from bone marrow (BM; site of cancer) and NGS on skin fibroblast DNA (proxy for germline) on all patients with hematologic malignancies (HM) who undergo a standard-of-care BM biopsy at Georgia Cancer Center/Wellstar MCG Health. Simultaneous 4 mm punch skin biopsy for fibroblast culture will be obtained at the planned puncture site of the BM biopsy. The bone marrow biopsy and aspirate are already part of the patient's scheduled medical evaluation and the punch biopsy of the skin is the only additional procedure involved in the study. We will compare BM and germline variants in order to determine their rate and concordance, examine the percent of germline variants that are likely to be the cause of the HM, assess the impact of the germline finding on treatment choices, and determine the impact of germline findings on family members. New data from OGM will be compared to NGS

Conditions

Hematologic Disease

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: SCREENING
• Blinding Strategy: NONE

Study Groups

genetic testing for hematological malignancies

Single arm study for patients with hematological malignancies who agree to genetic testing.

Group Type: EXPERIMENTAL

Genetic Testing for hematological malignancies

Intervention Type: GENETIC

combined skin punch biopsy/BM aspiration technique, followed by NGS and OGM.

Interventions

Genetic Testing for hematological malignancies

combined skin punch biopsy/BM aspiration technique, followed by NGS and OGM.

Intervention Type: GENETIC

Eligibility Criteria

Inclusion Criteria

• a. Age ≥ 18 years of age. b. A new diagnosis of HM. c. Diagnostic bone marrow to be performed at Wellstar MCG Health/Georgia Cancer Center.

d. Ability and willingness to provide informed consent in English to undergo skin biopsy for fibroblast culture and NGS for comparison with the BM NGS.

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Augusta University

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

John Henson, MD

Role: PRINCIPAL_INVESTIGATOR

Medical College of Georgia at Augusta University

Central Contacts

James T Sonnenberg, BS

Role: CONTACT

JSONNENBERG@AUGUSTA.EDU

9106192597

Eleanor Reeves, BS

Role: CONTACT

EREEVES@augusta.edu

7067210730

Other Identifiers

2218223

Identifier Type: -

Identifier Source: org_study_id