Health TrialsbyHealthPanel

Germline Testing for Predisposition to Myeloid Malignancies

ConditionsMyeloid MalignancyGenetic Predisposition to DiseaseMyeloid Hematological Malignancies
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18+
SponsorChristopher Reilly

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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.

Disqualifiers

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

Trial design

Design model

Single group

Treatments tested in this trial

  • MyeloGen Gene Panel

    Device

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

Treatment groups

200 Participants
are divided into 1 treatment group
Group A: MyeloGen Germline Testing GroupExperimental treatment 1 intervention

Trial outcomes

Primary outcomes

1

Successful Completion Rate

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.

Time frame
Up to 10 weeks

Secondary outcomes

1

Number of Participants with Positive Results

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).

Time frame
Up to 12 weeks
2

Patient Reported Outcome of Germline Genetic Testing based on GST Survey

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.

Time frame
Up to 60 days
3

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

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.

Time frame
Up to 12 weeks

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Christopher Reilly

Lead sponsor

Dana-Farber Cancer Institute

Sponsor institution

Broad Institute of MIT and Harvard

Collaborator

Source ClinicalTrials.gov
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