Precision Monitoring of Bone Marrow Transplant Recipients

Within the first year of receiving a bone marrow transplant, up to half of all patients suffer from complications of Graft-Versus-Host Disease (GVHD). Immune cells present in the donor’s tissues attack the patient’s own tissues. GVHD most often affects the skin, gut, and liver, but it can occur anywhere. Early diagnosis is critical for effective treatment and to prevent serious organ injury and death. Unfortunately, to diagnose GVHD, current clinical practice relies almost entirely on the presence of clinical symptoms and requires confirmation by invasive biopsy procedures.

Iwijn De Vlaminck, Biomedical Engineering, is developing a noninvasive blood test to provide early diagnosis of GVHD. De Vlaminck’s efforts are grounded on the highly innovative concept, supported by significant pilot data, that GVHD can be detected via circulating cell-free DNA (cfDNA), which are bits of genetic material released into the blood by damaged tissues. By profiling methylation marks in cfDNA, the test will trace cfDNA to the organ from which it originated and measure the extent of tissue damage.

This research aims to produce a highly informative, noninvasive monitoring tool for acute GVHD. The test could inform new modes of treatment as well as transplant strategies to reduce the risk of acute GVHD. Furthermore, cfDNA assays could find future use in guiding pre-emptive treatment strategies, thereby reducing the need for prolonged immunosuppressive therapy after transplant. Earlier detection of acute GVHD could lead to shorter durations of therapeutic immunosuppression and improved outcomes for patients who receive bone marrow transplants.

NIH Award Number: 1R01AI146165-01A1

Cornell Researchers

Funding Received

$3.4 Million spanning 5 years