Rare Disease Day With Amy DeZern, MD, MHS: Making Progress in Myelodysplastic Syndromes

In honor of Rare Disease Day on February 28, Oncology Data Advisor spoke with Amy DeZern, MD, MHS, Director of the Bone Marrow Failure and Myelodysplastic Syndromes (MDS) Program at Johns Hopkins Medicine and member of the Aplastic Anemia and MDS International Foundation (AAMDSIF) medical advisory board. In this interview, Dr. DeZern explains the challenges of treating such a rare disease and shares some of recent promising updates in novel treatments for patients with MDS.  

This interview has been conducted in partnership with AAMDSIF, the world’s leading nonprofit health organization dedicated to supporting patients and families living with aplastic anemia, MDS, paroxysmal nocturnal hemoglobinuria, and related bone marrow failure diseases. The Foundation provides answers, support, and hope to thousands of patients and their families around the world.

Oncology Data Advisor: Welcome to Oncology Data Advisor. In honor of Rare Disease Day, I’m here today with Dr. Amy DeZern. Thank you so much for joining us.

Amy DeZern, MD, MHS: Thanks for having me. I’m pleased to be here. MDS is a rare disease, and I’m pleased it’s being honored on this day.

Oncology Data Advisor: By way of background, what are some of the most challenging aspects of treating patients with MDS?

Dr. DeZern: Certainly. Treating patients with MDS is an incredible privilege, but there are some clinical and medical challenges for these patients, their families, and then for us as their providers. Overall, if I had to identify one major challenge, it is simply that I wish we had more drugs and more treatment paradigms to offer these patients. Globally speaking, it is a relatively rare disease, and there are fewer options compared with some other cancers.

Another issue that’s quite prevalent currently is how limited transfusion availability is. At least in the United States, the Red Cross is at an all-time shortage, and given that transfusion support with red cells and platelets is a mainstay for cytopenic patients with MDS, this is something that can make it tricky. Another issue is what we call health care–related quality of life. To take really good proactive care of patients with higher-risk MDS, it takes a lot of visits per month, and that can certainly be challenging for the patient. They get tired, or their family, who might do the driving, get tired.

We’re working on options that can allow some of the treatments to be spread out. Back to our first challenge, if we have more treatments that are more efficacious, they won’t need to be in the clinic as much. There’s a lot of research in the area, and these are hurdles that I think the field can overcome, but we’re still working on it.

Oncology Data Advisor: When selecting therapy for patients with MDS, what is the role that prognostic factors play?

Dr. DeZern: There’s certainly a lot that goes into prognostication in MDS. I’ll actually take one step back and talk about diagnosis. How a patient with MDS is diagnosed really needs to be quite rigorous, because the more information we have at the beginning, with increased detail from diagnosis, the more we can explain about their biology and then prognosticate for the patient and work through the expectation management with them and their family.

You certainly can’t diagnose MDS at this time without a bone marrow assessment. You need a lot of specific information from that specific evaluation. Increasingly, specifically for prognostication, we need a metaphase karyotype and molecular next-generation sequencing. We’re learning through both retrospective and prospective studies of the disease biology of MDS that different mutations may suggest a less favorable prognosis or disease that has a really indolent course.

We get as much information as we can to try to explain how a patient arrived at their MDS state, and then we see what it’s going to look like going forward in terms of just watchful waiting for cytopenias for many years, or if we need to intervene quite proactively because the prognostic factor suggests someone who’s more likely to get acute myeloid leukemia (AML) sooner rather than later. We also use that prognostication to talk about whether or not we should pursue a bone marrow transplant for an MDS patient, as well.

Oncology Data Advisor: With all these considerations for treatment, what were some of the most significant updates in MDS treatment that were presented recently at the American Society of Hematology (ASH) Annual Meeting?

Dr. DeZern: It’s always fun to hear the new clinical studies and the new prognostic studies at the American Society of Hematology meeting. Back to your previous question about prognostication, one study that was presented as an oral abstract by Elsa Bernard and colleagues was the development and validation of a molecular international prognostic scoring system called the IPSS-M for risk stratification. There are other scoring systems out there that are incorporating this next-generation sequencing data, but this is the formal IPSS incorporation, which was interesting.

In terms of therapeutic studies, there were a lot of interesting abstracts. We heard some more data on pevonedistat from the large randomized phase 3 trial called the PANTHER study, which compared pevonedistat with azacitidine to just azacitidine alone. It was an interesting analysis presented by Dr. Sekeres and showed how some of the secondary MDS patients did with pevonedistat, which is a fairly nontoxic drug. That was interesting. There were a couple of abstracts looking at untreated higher-risk MDS using CPX-351, which is liposomal daunorubicin and cytarabine used in AML out of antecedent MDS. It looks like it’s fairly nontoxic and quite a viable bridge to transplant for higher-risk MDS. There were two studies about that.

Then there were a couple retrospective or prospective analyses of the hypomethylating agent in combination with venetoclax in higher-risk MDS. Dr. Garcia looked at the molecular profiles in patients who responded in her phase 1b study. Then Dr. Komorokji looked at a nice real-world experience of patients who either got azacitidine alone and then had venetoclax added to it, or started upfront for their high risk disease with the combination. It was a useful analysis to look at it in a real-world setting. Lastly, we’re learning about sabatolimab, which is a TIM-3 inhibitor, with a unique dual mechanism of action to harness the immune system and target the blasts in higher-risk MDS. Dr. Brunner talked more about that data there.

So there was a lot of clinical and prognostic information. I’ve mentioned just a few because certainly ASH is a big meeting, but it gives me a lot of hope for patients in the field as we make progress in MDS.

Oncology Data Advisor: That sounds like a lot of very exciting updates, so thank you so much for sharing them with us.

Thank you for listening to Oncology Data Advisor. Be sure to subscribe to the podcast so you’ll never miss an episode! In addition to our podcast, the Oncology Data Advisor site features expert perspectives and news stories on the latest in cancer research and treatment, all found at oncdata.com.

About Dr. DeZern

Amy DeZern, MD, MHS, is an Associate Professor of Oncology and Director of the Bone Marrow Failure and MDS Program at Johns Hopkins Medicine. She is also active in the Leukemia Program in the Division of Hematology Malignancies at the Johns Hopkins Sidney Kimmel Cancer Center. Dr. DeZern specializes in the treatment of patients with MDS, AML, aplastic anemia, and paroxysmal nocturnal hemoglobinuria, with particular expertise in the use of alternative donor bone marrow transplantation for patients with severe aplastic anemia. Her research focuses on the development of novel therapeutics for patients with bone marrow failure disorders, and she has served as principal investigator for numerous clinical trials in this field.


Bernard E, Tuechler H, Greenberg PL, et al (2021). Molecular international prognostic scoring system for myelodysplastic syndromes [oral presentation]. 63rd American Society of Hematology Annual Meeting & Exposition. Abstract 61.

Sekeres MA, Girshova L, Doronin VA, et al (2021). Pevonedistat (PEV) + azacitidine (AZA) versus AZA alone as first-line treatment for patients with higher-risk myelodysplastic syndromes (MDS)/chronic myelomonocytic leukemia (CMML) or acute myeloid leukemia (AML) with 20-30% marrow blasts: the randomized phase 3 PANTHER trial (NCT03268954) [oral presentation]. 63rd American Society of Hematology Annual Meeting & Exposition. Abstract 242.

Jacoby MA, Sallman DA, Scott BL, et al (2021). A pilot study of CPX-351 (Vyxeos©) for transplant eligible, higher risk patients with myelodysplastic syndrome [oral presentation]. 63rd American Society of Hematology Annual Meeting & Exposition. Abstract 540.

Peterlin P, Tulure P, Chevallier P, et al (2021). CPX 351 as first line treatment in higher risk MDS. A phase II trial by the GFM [oral presentation]. 63rd American Society of Hematology Annual Meeting & Exposition. Abstract 243.

Garcia JS, Wei AH, Jacoby MA, et al (2021). Molecular responses are observed across mutational spectrum in treatment-naïve higher-risk myelodysplastic syndrome patients treated with venetoclax plus azacitidine. [oral presentation]. 63rd American Society of Hematology Annual Meeting & Exposition. Abstract 241.

Komrokji RS, Ali NA, Chan O, et al (2021). Assessing the role of venetoclax in combination with hypomethylating agents in higher risk myelodysplastic syndromes [oral presentation]. 63rd American Society of Hematology Annual Meeting & Exposition. Abstract 536.

Brunner AM, Esteve J, Porkka K, et al (2021). Efficacy and safety of sabatolimab (MBG453) in combination with hypomethylating agents (HMAs) in patients (pts) with very high/high-risk myelodysplastic syndrome (vHR/HR-MDS) and acute myeloid leukemia (AML): final analysis from a phase 1b study [oral presentation]. 63rd American Society of Hematology Annual Meeting & Exposition. Abstract 244.

Transcript edited for clarity. Any views expressed above are the speaker’s own and do not necessarily reflect those of Oncology Data Advisor. 

Related Articles


Your email address will not be published. Required fields are marked *