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NCT Number: NCT07112287

Germline Testing for Predisposition to Myeloid Malignancies

The goal of this research study is to evaluate the feasibility of germline genetic testing using the investigational MyeloGen Gene Panel in adult participants diagnosed with myeloid malignancies.

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Key information

Conditions

Myeloid Malignancy Disease Attributes Disease Susceptibility Genetic Predisposition to Disease Myeloid Hematological Malignancies Pathologic Processes Pathological Conditions, Signs and Symptoms

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Dana-Farber Cancer Institute

Boston, Massachusetts, 02215, United States

Location status: Recruiting

Location contact

Christopher R Reilly, MD

CONTACT

[email protected]

407-443-6243

Christopher R Reilly, MD

PRINCIPAL_INVESTIGATOR

About this study

This prospective, single arm study aims to evaluate the feasibility of germline genetic testing using the investigational MyeloGen Gene Panel in adult participants diagnosed with myeloid malignancies. Investigators hope to learn how to best incorporate routine genetic testing in clinical care for participants with blood cancers, regardless of personal or family history of blood cancer.

The research study procedures include screening for eligibility, in-clinic visits, questionnaires, and punch skin biopsies.

It is expected that about 200 people will take part in this research study.

The laboratory sponsor of this protocol is Broad Clinical Laboratory.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Age of 18 years or older
  • Participants must have histologically confirmed myeloid malignancy OR bone marrow failure within the last 6 months prior to screening.
  • Ability to understand and provide a signed and completed consent document in English.

Exclusion criteria

  • Participants who cannot safely undergo clinically indicated skin biopsy as adjudicated by the study team.
  • Participants who have previously undergone germline genetic testing for predisposition to myeloid malignancies

Treatment and study plan

MyeloGen Gene Panel

Device

The MyeloGen Gene Panel is investigational Germline genetic testing using skin fibroblasts.

Other names: Custom hereditary cancer gene panel

Primary outcomes

  1. Successful Completion Rate

    Time frame: Up to 10 weeks

    Successful completion rate of germline genetic testing will be defined as the proportion of participants who return genetic test results within 10 weeks of study consent, which would require there be no excessive delays in obtaining a skin biopsy.

Secondary outcomes

  1. Number of Participants with Positive Results

    Time frame: Up to 12 weeks

    A "positive" result indicating a pathogenic or likely pathogenic variant was detected. This will also include Variants of Unknown Significance (VUSs) with supporting pathogenic criteria per American College of Medical Genetics guidelines (ACMG).

  2. Patient Reported Outcome of Germline Genetic Testing based on GST Survey

    Time frame: Up to 60 days

    Participants will complete the GST survey 1 (after the educational video and skin biopsy) and GST survey 2 between 45-60 days after disclosure of genetic test results. GST survey answers will be converted to a 5-point scale: 1- Disagree strongly, 2-Disagree, 3-Neither Agree or Disagree, 4-Agree, 5- Agree strongly.

  3. Number of Participants with an Identified Germline Predisposition on Generic Testing Who Haven't Met NCNN Guideline-based Germline Genetic Testing Recommendations

    Time frame: Up to 12 weeks

    NCCN guideline-based eligibility for germline genetic testing will be assessed using the following criteria and manual review of participants' medical record, 1) Participants with Myelodysplastic Syndrome (MDS) or Acute Myeloid Leukemia (AML) less than age 50, 2) Hypoplastic MDS regardless of age; 3) History of aplastic anemia, 4) Documented suspicion of a possible germline predisposition to myeloid malignancies.

Study contacts

Contact information is provided by the study sponsor or research team.

Christopher R Reilly, MD

CONTACT

[email protected]

407-443-6243

Sponsors and collaborators

Lead sponsor

Christopher Reilly

Other

Collaborators

  • Broad Institute of MIT and Harvard

Registry information

Official study title

MyeloGen: Germline Testing for Predisposition to Myeloid Malignancies

Acronym: MyeloGen

Important dates

Study start
2025
Primary completion
2030
Study completion
2033
First posted
Aug 8, 2025
Registry last updated
Apr 24, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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