Tag Archive for: MPL

Recent Advances in Myelofibrosis Research | Disease-Modifying Therapies

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Where is progress being made in the field of myelofibrosis? Dr. Idoroenyi Amanam discusses how disease-modifying therapies and cellular therapies are advancing patient care.

Dr. Idoroenyi Amanam is a specialist in myeloproliferative disorders and is an Assistant Professor in the Division of Leukemia at City of Hope. Learn more about Dr. Amanam.

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Transcript:

Katherine Banwell:

What are your areas of focus in myelofibrosis research? 

Dr. Idoroenyi Amanam:

So, I think the way that I would break it down, when you think about myelofibrosis patients, or patients with myeloproliferative disorders, patients who are diagnosed, and they’re really pretty much asymptomatic, and then you have patients who have some symptoms, then you have some patients who are very symptomatic or transitioning into a more severe disease and predominantly, that disease is acute leukemia. And so, I have an interest in trying to identify new treatments for all of these types of patients.  

Katherine Banwell:

In your opinion, what new myelofibrosis advances are most promising? 

Dr. Idoroenyi Amanam:

So, traditionally, for a lot of myeloproliferative disorders, including myelofibrosis, we had a watch and wait approach, so we typically actually did not really have very good therapies. And I think all of that changed with the approval of the first JAK inhibitor, ruxolitinib (Jakafi).  

And we have transitioned to understanding the signaling pathways that are involved in myelofibrosis and myeloproliferative disorders. And we understand certain driver mutations that are involved in these signaling pathways and involved in other areas that help drive these diseases.  

And I think what’s exciting for us right now is, we’re transitioning from having a Band-Aid approach, or a watching and wait approach, to actually having interventions that are what I would call disease-modifying drugs. And so, these drugs target some of these drivers that drive the disease.  

They target some of the inflammation that’s associated with the disease, and, in fact, they’re also targeting some of our own immune cells that may help us protect us against these diseases progressing into more aggressive disorders. 

Katherine Banwell:

How are innovations in technology accelerating myelofibrosis research?  

Dr. Idoroenyi Amanam:

You think about how we understood these diseases 20 to 30 years ago. I think we understood the clinical presentation. We understood that some patients had big spleens, we understood that those patients’ counts didn’t do so well, we understood when we would look at their marrow, how the cells looked under the microscope. And we’ve transitioned to now understanding how some of those proteins that are   in these  signaling pathways are either turned on or turned off.    

We have a better understanding of the genetics of this disease, and how it changes over time, and what that means for patients prognostically, and how they will actually respond to our current therapies.  

And obviously, it’s driving how we are setting up clinical trials and other therapies  for the future. And so, I really would say our  genetic, genomic understanding of these disorders have really opened up many opportunities for us to treat these patients better.  

Katherine Banwell:

Well, are there other research developments showing promise that patients should know about? 

Dr. Idoroenyi Amanam:

So, traditionally, we’ve thought about  these disorders as disorders where, maybe if we improved symptoms – so we give you, maybe, a pill that would help with your symptoms, or we’ll give you another medication that will help with keeping your counts under control or reducing your risk for clotting and stroke.  

And we are currently in a space where cellular therapy has exploded across all areas of oncology. We have many clinical trials that are using  therapies that  take your own cells,  or other donor cells from healthy  people, and we are giving them to patients with the hope that it will  get rid of these  bad cells that are driving myelofibrosis.  

Updates in Myelofibrosis Research From an Expert

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Dr. John Mascarenhas shares updates on myelofibrosis research. Dr. Mascarenhas highlights the shift towards combination therapies, particularly the use of JAK inhibitors alongside novel agents, with the goal of improving disease response and patient outcomes.
 
Dr. John Mascarenhas is Professor of Medicine at the Icahn School of Medicine at Mount Sinai (ISMMS) and the Director of the Adult Leukemia Program and Director of the Center of Excellence for Blood Cancers and Myeloid Disorders at Mount Sinai. Learn more about Dr. Mascarenhas.

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Transcript:

Dr. John Mascarenhas:

My name is John Mascarenhas, I am a professor of medicine at the Icahn School of Medicine here in New York City. I direct the Center of Excellence for Blood Cancers and Myeloid Disorders, and I lead the adult leukemia program. But my real passion and interest is in myeloproliferative neoplasms and translational research, trying to understand the biology of the diseases and helping translate that into effective therapies in the clinic. 

Katherine Banwell:

Dr. Mascarenhas, from your perspective, what are the highlights so far this year in myelofibrosis research? 

Dr. John Mascarenhas:

So, I think myelofibrosis research – I’ve been in this field for about 20 years, and I’ve watched it go from a field where we had very little insight into the biology of the disease, which meant very little targeted or informed therapies to the era of JAK inhibitors.  

The first being 2011 with ruxolitinib (Jakafi), then 2019 with fedratinib, 2022 with pacritinib, and then 2023 with momelotinib (Inrebic), has really afforded us a significant advantage in trying to tailor the treatments for different patient niches to improve spleen and symptom benefit.  

And I do think that translates to a survival benefit in our patients with myelofibrosis. So, outside of bone marrow transplant, really these treatments are not curing patients, but they are addressing certain aspects of the disease. 

What I’m most excited about is the new era; the next generation of approaches that we’re seeing, and we have been seeing, and will continue to see emerge, and these include combination therapy approaches up front. So, taking those JAK inhibitors, the benefit they have, and trying to improve upon that with the addition of informed therapies, rational drugs that have pre-clinical evidence. 

Meaning, in the lab with cells from patients with animals that are engineered to have myelofibrosis, so that when we take them into the clinic, we are more confident, more informed in our decision-making, that we’re not exposing patients to drugs that really don’t have rationale.

Katherine Banwell:

What do these research advances mean for myelofibrosis patients? 

Dr. John Mascarenhas:

Well, I think what we’re seeing is a shift towards more combination therapy. So, what I think it means for a patient is deeper responses from not just spleen and symptom, but what we’re looking at very intently are biomarkers of disease modulation and disease response, hopefully, disease course changes.  

So, things like reductions in their driver mutation. These are gene mutations like JAK2, CALR, MPL, reductions in inflammatory markers, reduction in bone marrow fibrosis in the bone marrow.  

All of these things suggest that we’re really starting to modulate the disease in a more significant way. What we’re trying to show is that that actually matters to a patient, that these findings actually translate to better progression-free survival, better overall survival. So, I’m really enthusiastic and excited by what is happening now, because I do think it pays off. 

It’s incremental benefits, but things that are now more targeted, like mutant CALR antibody approaches, or BiTE approaches.  

To those patients who have this abnormal CALR protein expressed on the surface of the cell transformative with at least the potential to be JAK2 selective inhibitors, really going after that mutant JAK2 in a very selective way, or a Type II JAK2 inhibitor. Really, the potential to have very molecularly defined targeted therapies that will, hopefully, get us much deeper responses; that patients will see even greater benefits, better improvements in symptom burden, spleen, but ultimately survival.  

When Should Myelofibrosis Mutational Testing Be Repeated?

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When should myelofibrosis mutational testing be repeated? Dr. Pemmaraju discusses the importance of retesting at key points and how mutations impact care and treatment plans. 

Dr. Naveen Pemmaraju is Director of the Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN) Program and Professor in the Department of Leukemia at The University of Texas MD Anderson Cancer Center. Learn more about Dr. Pemmaraju.

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Transcript:

Katherine Banwell:

“I understand that mutational testing should be done at diagnosis. Is there a point where there would be a need to repeat this test?”  

Dr. Naveen Pemmaraju:

Oh, that’s an awesome question. So, we were mentioning that earlier. I do believe and I advocate that all patients should have molecular testing, particularly now as it’s more available widely before it wasn’t. Again, we level set what we’re talking about. In myelofibrosis, three common driver mutations, JAK2, CALR, MPL makes up about 90 percent. 

Then in addition to that, there’s the triple-negative, and you usually find an additional mutation. Then on top of these big three, it’s common to have co-mutations, ASXL1, etc. What we found in this MIPSS score that we just mentioned ties into that. We found now that for the first time, we can incorporate these molecular findings to prognosticate for the patients. That’s why it’s important to check them. So, to this question by Joel, yes, if you have access and availability, not only checking it at baseline but later on at a provoking event.  

So, at the time of relapse, progression, going onto a clinical trial, just to name three of several. I think it’s a good idea to recheck the molecular status. The problem and barriers are what you would expect, cost, expense, access, availability, justification, etc., etc. So, it’s not a mandatory part of the field, especially in the standard of care, non-research aspect. However, if we can get to the point where we can do that, it would be nice and helpful because these mutations change, they’re dynamic.   

You can have negative for mutation at baseline, positive, and even vice versa, depending on therapies. Are you going to go for a transplant? Are you going to go to a clinical trial? Are you changing therapy? It would be nice to know. 

How Molecular Markers Affect MPN Treatment | Advances in Research

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How Molecular Markers Affect MPN Treatment | Advances in Research from Patient Empowerment Network on Vimeo.

Are there new molecular markers being discovered that could affect myeloproliferative neoplasm (MPN) care? Dr. Lucia Masarova explains common MPN driver mutations and what researchers are learning about recently discovered molecular markers, such as ASXL1.

Dr. Lucia Masarova is an MPN Specialist and Assistant Professor in the Department of Leukemia at The University of Texas MD Anderson Cancer Center. Learn more about Dr. Masarova.

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 Expert Perspective | Disease Modification in Polycythemia Vera

Expert Perspective | Disease Modification in Polycythemia Vera

Transcript:

Katherine Banwell:

Dr. Masarova, molecular testing is important for people diagnosed with MPNs and may help provide insight into effective treatment approaches. What are some new areas of research related to molecular markers? 

Dr. Lucia Masarova:

Molecular markers are very relevant in our designs or thinking about myeloproliferative neoplasms. Not only treatments, but also the disease qualification or prognostication wherever since the discovery of the so-called driver mutations, which are the mutations responsible for the overproduction of the blood counts and disease pathogenesis.  

Among them we have the most common, JAK2 mutation, then also calreticulin, MPL, or in some instances we don’t even understand and call it triple-negative. 

There we have learned, over the years, that the amount of the expression, or allele burden, does correlate with the disease behavior outcome. And then our ability to reverse that. So, a chief decrease of the burden is also relevant to the outcome of the patients. So, developing therapies or even putting these as an endpoint for clinical trials is important for our decision-making and moving towards eradication of the disease.  

Then there are additional molecular changes, which include non-drivers, which are additional mutations that we have learned and even implemented in the latest prognostic models, some of them are very unfavorable, such as ASXL1, Ezh2, IDH mutations, certain splicing factors.  

And those play additional roles, a lot of it we still do not understand, in how the disease is going to ultimately behave. What is their interplay, and how we can interfere with that?  

So, learning about the impact of these mutations and the drivers and the other effects that cause the disease evolution will probably become the landmark of this decade and in facing myeloproliferative neoplasms. 

And I’m hoping we will develop medications, or we will be able to focus our efforts and our decision-making based on molecular definition, as it’s currently very broadly seen across all cancers. We call it precision medicine where we really define, “How does this look like,” not how we box it in based on morphology. What is it driving? What is it not responding? And what can we do to improve that?  

So, I totally see here a big potent and powerful tool to allow us to make the most individualized and customized decisions for our patients to offer them the best outcomes.  

Expert Perspective | Disease Modification in Polycythemia Vera

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Expert Perspective | Disease Modification in Polycythemia Vera from Patient Empowerment Network on Vimeo.

Is it possible to change the course of disease in polycythemia vera patients? MPN specialist and researcher Dr. Lucia Masarova shares an overview of the research in disease modification, discussing her work as the coauthor in an article entitled Moving Towards Disease Modification in Polycythemia Vera, recently published in the journal Blood.

Dr. Lucia Masarova is an MPN Specialist and Assistant Professor in the Department of Leukemia at The University of Texas MD Anderson Cancer Center. Learn more about Dr. Masarova. 

 

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Transcript:

Katherine Banwell:

Dr. Masarova, you are a coauthor in an article entitled Moving Towards Disease Modification in Polycythemia Vera, which was recently published in the journal Blood. Can you share some of the highlights of the article and what it means for PV patients? 

Dr. Lucia Masarova:

Disease modification in polycythemia vera. I’m so excited finally being talking about this because we’ve been really, really, really so hungry for this term, although we still don’t know what it means.  

So, we group together with lots of experts in the myeloproliferative neoplasm field and try to brainstorm and put together, “What does it actually mean?” And to me, and to all of us, it was to offer our patients the normal or not-normal lifespan without the consequences of the disease that they face. Because we historically divided polycythemia vera into high-risk or low-risk disease based on the age or previous history of thrombosis or clotting complications.  

However, there is a huge area of patients that wouldn’t have either, and still suffer tremendously a bad quality of life, and ultimately also face the disease progression to myelofibrosis, which is the most actual complication of long-term polycythemia vera duration.  

So, the concept of disease modification would be to actually prevent the complications to even occur. To allow our patient to live free of having the fear of living with a thrombosis or clotting complication or ultimately progress into myelofibrosis. We have to learn how to get there. What are the relevant endpoints of tools for us to utilize to really understand? We have learned a lot from seeing what we call molecular remissions, or control of the JAK2 mutation with certain medications, for example, interferons or latest ruxolitinib (Jakafi), the JAK inhibition, where the decrease of the allele burden, which represents the disease, is correlated with better outcome.  

So, that is something that we have to be learning down the road with a longer follow-up. But that basically triggered us to focus on what can we do better? How do we prevent this from even happening rather than only controlling the historically main points of the disease which are presented by the blood counts symptoms and display? And where we are actually failing quite a lot of patients because despite them having a control count, they still don’t have a happy life, and lots of them suffer and complain.  

So, this is something to be learned, and this is opening the disease modification not only for polycythemia vera, but also for all patients with myeloproliferative neoplasms, which have a little bit of a different feeling in the whole myeloid malignancies field. Because it is a very long disease, and it could evolve and change, and only now we starting to understand what does actually happen there. Why some people could live for 30 years, and never face any consequences, and the others would progress very fast? 

So, disease modification would normally allow us to develop and learn more tools and better biomarkers, but also focus on drugs that are really needed to help with these long-term outcomes of our patients.  

Choosing a Myelofibrosis Treatment Plan | Key Questions to Ask

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Choosing a Myelofibrosis Treatment Plan | Key Questions to Ask from Patient Empowerment Network on Vimeo.

When considering therapy for myelofibrosis, where do you start? Dr. Lucia Masarova shares advice and key questions to ask your provider when making myelofibrosis treatment decisions.

Dr. Lucia Masarova is an MPN Specialist and Assistant Professor in the Department of Leukemia at The University of Texas MD Anderson Cancer Center. Learn more about Dr. Masarova.

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Transcript:

Katherine Banwell:

When considering treatment options, what key questions should patients ask about their proposed treatment plan? 

Dr. Lucia Masarova:

What’s the goal of my therapy? That is one of the most important things to know. Patients don’t even know how long they have to be on the medicines. What to do and how does it look when the medicine is still working? What do I need to be looking for in this medicine? And then what are we going to do if it fails? And what does it actually mean when it fails? What is the schedule? How burdensome the treatment is? How often do I have to come?  

How often and what do I have to pay? Because the financial burden we have to really, really face the truth. It is very, very, very significant and somebody living with this disease predicates. It’s something we cannot take lightly, and we really have to combine our efforts and help with that. There are fantastic patient support organizations, but is not well-known, and is still in the rare – in rarer field. So, there’s more effort that we do. 

When do I need more help? Where to be referred to more experts? What is the role of stem cell transplantations, if ever? So, those are really the key things.  

Where do I find reliable resources to learn about my treatment, to learn about the disease? How do I connect with people from the same community? It is a disease with a lower age in a lot of circumstances and really facing this disease in the 30s or 40s or 50s is a really challenging thing. Although we have more and more medications currently, we really do have now to start thinking about their durability, about the safety for long-term, about their assessments for not performing, and where do we place the ultimate cure for stem cell transplants?  

And how do we make it actually happen in more and more eligible patients? Because we have to face the truth. It is still not utilized to where it belongs. Patients are not being referred. 

Patients are not being transplanted. And they may change with novel therapies. But we have to really consider all of our tools to offer the longest life span and to prevent all the disease trouble that comes with living with MPNs.   

Katherine Banwell:

When it comes to clinical trials, where do they fit in in choosing treatment? 

Dr. Lucia Masarova:

For me, it’s number one., and always number one.  

That’s just the academic centers which are dedicated and focused on developing better and novel and up front and just tailored and customized drugs. But I know that the life is out there and it’s a little bit more challenging for everybody to deal with such a rare disease.  

I would definitely say any patient that does not respond to current therapy in terms of uncontrolled symptoms or spleen, or other concerns should be referred and evaluated for participation in clinical trials. It is the only way we could understand what is driving that this is not responding and how could we help the best?   

For patients with myelofibrosis, which is the most aggressive myeloproliferative neoplasm, I would definitely put it in. If they are not doing well on number  one, JAK inhibitor, whatever is being used, they should be highly encouraged to be referred to centers and evaluated for clinical trials. 

We have been developing as others and own strategies to potentiate the benefit and efficacy of the current treatments, as well as agents in what we call salvage or refractory setting.  

However, I cannot emphasize enough to really focus on the first track that providers choose for their patients and utilize it to the best ability to avoid frequent or quick switching. Because in a salvage or  refractory setting we cannot offer the same benefit we could offer upfront. We are pushing the disease, maybe being less responsive, maybe more refractory, if we don’t handle the medication we have currently on the table to the best ability.  

Those are excellent medications, fantastic drugs, but there are shortcomings in each and every one of them. And we could do better to really start thinking about what has happened with the medication, why is it failing the patient, and what else could we do? And that’s only possible in the clinical trial setting, especially in such a rare disease as myeloproliferative neoplasms are.   

Katherine Banwell:

Why is it important for patients to feel like they have a voice in their treatment options? 

Dr. Lucia Masarova:

Because it’s about the patients. I would say, as I always say to my patients, “Nobody’s a better advocate for you than you.” I really, really, really like working with patients. They are educated. They understand where to find resources. They’re not afraid to ask. That challenges all of my team and everybody to really be engaged. They know when to notify me. Not to be quiet when they need something. And really raise their voice when something doesn’t work.  

Patients know their bodies more than anybody can. And no data, no boxes, no books can ever tell me how it actually is. It’s not by chance we have two ears to listen and one mouth to talk.  

So, we have to really listen what the patient has to say and take all the abilities, the resources, the knowledge, the capabilities to really make the best thing for the patients, because it is ultimately and only about that.  

Is Stem Cell Transplant the Only Curative Option for Myelofibrosis?

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Is Stem Cell Transplant the Only Curative Option for Myelofibrosis? from Patient Empowerment Network on Vimeo.

Is there a cure for myelofibrosis? Dr. Lucia Masarova explains the role of stem cell transplant for the treatment of myelofibrosis and reviews additional therapies for patients who do not qualify for the procedure, such as JAK inhibitor therapy.

Dr. Lucia Masarova is an MPN Specialist and Assistant Professor in the Department of Leukemia at The University of Texas MD Anderson Cancer Center. Learn more about Dr. Masarova.

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Transcript:

Katherine Banwell:

Dr. Masarova, stem cell transplant is sometimes recommended for people with myelofibrosis. Is this still the closest option to cure for those patients? 

Dr. Lucia Masarova:

I would say so, as much as we don’t like it. We would like to develop novel conservative, less aggressive, that we call procedures or drugs. Stem cell transplants still represent a long-term cure for patients that are eligible. 

Katherine Banwell:

What about for patients who don’t qualify for stem cell transplant? What are effective long-term treatments for them? 

Dr. Lucia Masarova:

That’s a very, very important question and topic. The key point here is the long-term because long-term is a little difficult term in conservative management of myeloproliferative neoplasm, particularly when it comes to myelofibrosis.  

With the development of JAK inhibitors, the longest experiences we have with the first one called ruxolitinib or Jakafi, we have seen prolonged outcomes in survival so patients could live longer than expected before.  

However, it’s not forever. So, that’s why we are trying to develop novel strategies where I see a lot of roles of combinations of JAK inhibitors and other correlative compounds, such as bromodomains inhibitors or hypomethylating agents or others that would affect the pathways that we are missing currently to cover with the JAK inhibition. And that ultimately leads to medication failures and patients being refractory and then having a shortened lifespan.  

So, I’m hoping we will develop something for long-term. Particularly promising a very, very interesting concept is with the calreticulin where we are developing monoclonal antibodies or vaccines because we have seen and discovered calreticulin driver to be a targetable thing that causes immunogenicity. 

But I do really hope that we will move forward with these discoveries and the JAK mutate or other drivers causing myeloproliferative neoplasms to offer long-term management.  

The Importance of Telegenetics Consultations for MPN Patients

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The Importance of Telegenetics Consultations for MPN Patients from Patient Empowerment Network on Vimeo.

What role should telegenetics consultations take for myeloproliferative neoplasm (MPN) patients? Blood cancer patient Lisa Hatfield explains the rise of telegenetic consultations, how patients benefit from them, and how to learn more about access.

Download Resource Guide

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Transcript:

Lisa Hatfield:

According to the National Library of Medicine, less than 300 genetic tests were available in the 1990s; at the end of 2012, almost 3,000 genetic tests were available and now in 2023, +76,000 tests are available to the general public. Some of those genetic tests can be used on MPN patients through telegenetic consultations. These are appointments done via telemedicine with genetic counselors to determine what gene mutations you might have. They can be done by telephone or video conferencing. 

As you would imagine, this type of telemedicine became more common during the COVID-19 pandemic and should still remain in a patient’s tool box post-pandemic. While telegenetics consultations play an important role in a patient’s personalized care by determining if there are genetic mutations like JAK2 or MPL, the added benefit is that these online consultations protect the patient from exposure to viruses and potential infections as well as saves them valuable time, energy, and travel costs.

Telegenetic consultations are also beneficial for remote patients, including those in rural areas with limited or no access to genetic services. Be sure to talk to your doctor to see if you can benefit from telegenetic consults. This can be especially important or helpful to do at the beginning of your MPN journey or before switching treatments.

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How Is Personalized Medicine in MPN Care Influenced by Telemedicine?

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How Is Personalized Medicine in MPN Care Influenced by Telemedicine? from Patient Empowerment Network on Vimeo. 

How is MPN personalized medicine impacted by telemedicine? Watch as expert Dr. Jeanne Palmer shares situations where personalized care can aid essential thrombocythemia, myelofibrosis, and polycythemia vera patients, how telemedicine can aid in care, and the value of specialized care.

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Transcript:

Dr. Palmer:

So I think one of the key…so when we look at treating different myeloproliferative neoplasms, you have to take what’s your goal of therapy. So for the ones like essential thrombocythemia, where you have too many platelets, or polycythemia vera, where there’s too many red cells. A lot of times what you’re doing there is you’re just saying, “Well, how can I predict whether you’re going to have a blood clot or something?” Because people can live, these can be fairly chronic diseases that with appropriate therapy, people can live a long time.

So a lot of that’s risk mitigation. Where I think a lot of the personalized aspect of it is coming in is probably in myelofibrosis, which is a disease where I view it as too much inflammation, scar tissue develops in the bone marrow, people could get a large spleen, high white blood cell count. A number of different manifestations. And in that, we’re learning more and more that in addition to the three driver mutations, the JAK2, the MPL, and the calreticulin, there’s probably a whole other group of mutations that can really be used to help us predict and try to take a look into the future to help guide them. And what is the timing for transplant? Should we be more aggressive as we’re getting more and more agents being evaluated and hopefully approved in the treatment of myeloproliferative diseases? Who are the people who should utilize these agents?

Because again, you don’t want to overtreat. And so I think that being able to hone in on these different mutations to be able to help us predict what we think will happen and maybe different treatment options that we would have, that’s going to be important. Now, one of the things that’s really exciting is that some of these companies that actually do this deep sequence, like looking at multiple, multiple genes, actually have mechanisms by which they will send somebody to a person’s house and then draw the blood and take it over and run it. And so I’ve actually had that done before, where somebody I saw via telemedicine, and we really wanted to get that information so I could appropriately advise on what I anticipated was going to happen in the course of the disease.

And we were able to actually get that information through using home care, saying, “I want this order to be done. The home care people went out, drew the blood, sent it to where it needed to go in the right format, and I was able to get that information.” So I think that telemedicine allows them access to people who understand how to interpret that information. But I think we have to give a lot of props to a lot of these companies that are really getting innovative in how they’re capturing the data, saying, no, you know what? You don’t need to have this done in Scottsdale, Arizona or Phoenix, Arizona. You can have this done in your own home and wherever your home happens to be.

So I think that that type of thing is really changing some of how we can utilize that data that’s very personalized, but be able to use it in a telemedicine format where we don’t need people to physically come here to get their blood taken. Now, I do want to add the caveat. There are a number of different institutions have enormous amounts of lab work that’s looking at things above and beyond the approved tests that have been validated and everything. And that would be a lot harder to get. There still are ways of doing that, but I think that we have to acknowledge that there is something that we do lose by doing that. Although I can get a lot of information, be able to provide a lot of input to a patient. It still doesn’t address the fact that by physically being there, sometimes you can get samples that you can biobank and you can send to somebody’s lab. And then these are the people who are discovering the new things that really that’s how we learned what we know so far. Is because somebody went and looked at these genes and more and more and more of this is going on. So I want to temper this with saying not everything can be done by a telemedicine.

That we have to be thoughtful about our approaches and really utilize combining in-person visits along with telemedicine to really do care. And to give an example, what I do for patients is if I follow them by a telemedicine only, I won’t actually be a prescribing doctor. I won’t be a primary provider. I have to at least see them once a year if I’m going to give medicines or do things like that. So I think that there’s a hybrid model that’s going to be really important to do as well for patients who are able to do that.

Lisa Hatfield:

Thanks for that.

Dr. Palmer:

If that makes…yeah.

Lisa Hatfield:

It does make sense. And I just had a quick question too. So if I’m coming in or I’m going to see my…I’m a newly diagnosed MPN patient going into my local oncologist. I’m watching this webinar and I hear, “Oh, if somebody came to my home. I could maybe do telemedicine, or I can have somebody come to my home and take my blood and look at these genetic mutations. My local oncologist doesn’t know exactly how to go about doing that.” Would that be the point where they might try to contact a specialist or go through the consult center through Mayo Clinic or somewhere to say, “Oh, I need a specialist to help me access this type of testing?”

Dr. Palmer:

So I have to be very honest. I just learned about this type of testing in the last year or so. And so it’s something that I’ve started to be able to utilize. With myeloproliferative diseases, I think, and very honestly, and there’s a number of us specialists around the country, I think everyone seeing one at least once in terms of just saying, hey, what’s our plan of care going to be? Are we looking at all the angles of it is a really important thing to do. And I think there’s a number of excellent physicians out there in different parts of the country that some of whom are using telemedicine, some I’m not sure that they are. But I think that getting that specialized opinion is extremely important. I think then in terms of managing care, there’s multiple… There’s multiple ways that can be configured that will help take care of the patient depending on their individual needs and their ability to travel and everything. 

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Should All MPN Patients Undergo Molecular Testing?

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Should All MPN Patients Undergo Molecular Testing? from Patient Empowerment Network on Vimeo.

Dr. Gabriela Hobbs discusses the necessity of molecular testing for myeloproliferative neoplasm (MPN) patients, including the pros and cons of this in-depth testing for patients with polycythemia vera (PV) and essential thrombocythemia (ET).

Dr. Gabriela Hobbs is a hematology-oncology physician specializing in the care of patients with myeloproliferative neoplasms (MPN), chronic myeloid leukemia, and leukemia. Dr. Hobbs serves as clinical director of the adult leukemia service at Massachusetts General Hospital. Learn more about Dr. Hobbs.

See More From MPN Clinical Trials 201

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Transcript:

Katherine:

How useful is having a genetic panel done? Should all patients get molecular or genetic testing? 

Dr. Hobbs:

Great question. And I think that it is very important to have genetic testing.   

And genetic testing involves more than just testing the JAK2 mutation. So, we know that the JAK2 mutation is the most common mutation in patients with MPN. But that being said, there are other mutations that also occur such as the calreticulin mutation and the MPL mutation.   

And so, I think having genetic testing that at least tests for those three mutations is very important so that we can actually help a patient know that they have an MPN. In addition to those three main mutations, many clinicians now have access to what’s called extended next-generation sequencing, where there’s a panel that tests for many different genes at the same time and can test for a variety of other mutations.  

And this is particularly relevant for patients with myelofibrosis. As we know that having other mutations, like, for example, mutations in IDH or ASXL1 and others, can increase the risk of that disease in terms of its risk of transforming to leukemia or how long a patient may live with their myelofibrosis. 

And so, I do recommend having extended next-generation sequencing done at least at diagnosis.  

When I generally think about repeating that, if there’s something that looks like it’s changing within the patient’s disease, to be honest, also on the flipside of that argument, sometimes this next-generation sequencing will mostly contribute to adding anxiety and will not necessarily directly impact how a patient is treated. And this is particularly true in patients with PV and ET, where we’ll sometimes order these tests, and we get a bunch of mutations back, but we don’t know what to do with that information yet.  

And so, as a researcher – not a clinician – as a researcher, I think it’s very important to have that information so that we can then do studies and understand the patterns of mutations and how that affects outcome. But as a clinician, and you as a patient, you need to really be aware of how that’s going to impact the patient in front of you and how that may impact you as a patient. Do you want to know if you have these mutations if nothing can be done about it? So, I would say, take a moment to reflect upon what I said and also to ask your clinician, how is this information going to help me? Do I need to have this information?  

Maybe you want to have it done so that it’s in your record. But maybe you don’t necessarily want to know those results. And everybody’s very different. And I think it’s absolutely wonderful to talk to my patients about all the information. But there may be some patients that really are just, like, do the test but don’t tell me the results, because I know that I’m just going to be very anxious knowing that I have something that I can’t do anything about. So, just take a minute to talk about it with your doctors. I think that’s really important.  

How Driver Mutation Research Is Advancing MPN Treatments

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How Driver Mutation Research Is Advancing MPN Treatments from Patient Empowerment Network on Vimeo.

How do driver mutations affect MPN care? MPN researcher Dr. Gabriela Hobbs shares an update on what’s being learned about the JAK mutation and how researchers are working towards targeted therapy for MPNs.

Dr. Gabriela Hobbs is a hematology-oncology physician specializing in the care of patients with myeloproliferative neoplasms (MPN), chronic myeloid leukemia, and leukemia. Dr. Hobbs serves as clinical director of the adult leukemia service at Massachusetts General Hospital. Learn more about Dr. Hobbs.

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Transcript:

Katherine:

There have been huge developments in the last 10 to 15 years in the field of MPN. So, I’d like to dig a little deeper. We hear about the common driver mutations in MPNs like JAK2, CALR, and MPL. How are these being studied , and what is being discovered?  

Dr. Hobbs:

Yeah. So, it’s amazing how in the last 15 years really so much has been discovered. You know. The JAK2 mutation was first published out in 2005 and calreticulin in 2013. So, those are relatively recent discoveries. And I think a lot of efforts has been put into learning about what these mutations are doing and how they lead to disease. And so, we have the JAK inhibitors, which block the signaling through a pathway called JAK-STAT. And all of these mutations will activate that pathway within cells.  

And so, many of the approved drugs, for example, ruxolitinib (Jakafi), fedratinib (Inrebic), and pacritinib (Vonjo), work on blocking that pathway.  

But since then, we’ve also learned that there are other mutations and other pathways that are likely involved in the development of myeloproliferative neoplasms and also their progression. And so, what we’re seeing now is that many of the clinical trials that are being conducted don’t just target the JAK-STAT pathway or the pathway that’s influenced by these main mutations.  

But also block other pathways to try to really block all the variant expression of signaling in the myeloproliferative neoplasms. And so, we’re trying to attack it by many different angles.  

Katherine:

Yeah. Is there a possibility of specific targeted therapies at MPNs similar to those in AML such as FLT3 inhibitors? 

Dr. Hobbs:

Absolutely. So, similarly to AML, we know that we have mutations in similar types of genes called tyrosine kinases. So, these are enzymes that are turned on and always active. And so, I think there is definitely hope that we can develop some targeted agents. For example, ruxolitinib or the other JAK inhibitors are similar. They’re tyrosine kinase inhibitors where they block an enzyme, specifically the JAK2 enzyme.  

But I think that we can definitely do better and develop more specific inhibitors, for example, a molecule that just blocks the JAK2 mutation and not just every JAK2 molecule in every cell. Similarly to AML, there are mutations, for example, in enzymes called IDH.  

And we have IDH inhibitors for AML. And there are some studies that are using IDH inhibitors for MPN. So, I think we’re going to continue to see more targeted therapies specific to the mutations that occur in MPN. 

What Is Next Generation Sequencing for MPNs?

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What Is Next Generation Sequencing for MPNs? from Patient Empowerment Network on Vimeo.

Myeloproliferative neoplasm (MPN) care may include the use of next generation sequencing.  Dr. Kristen Pettit from Rogel Cancer Center explains next generation sequencing and how it is used in MPN patient care.

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Transcript:

Dr. Kristen Pettit:

Next generation sequencing or NGS refers to tests done from the blood or the bone marrow that can look for many different genetic mutations at once. So we know that most patients with MPNs will have mutations in either JAK2, CALR, or MPL but many will also have additional genetic mutations.

These additional genetic mutations may be important prognostically as we know is, we know some of these additional genetic mutations can confer either higher or lower risk of the disease progressing over time. So, I think next generation sequencing or NGS panels should be a part of the work up for most patients with MPNs at the time of initial diagnosis, and probably again, at the time that there’s any concern for disease progression in the future.

What’s YOUR Role in Making Myelofibrosis Treatment Decisions?

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What’s YOUR Role in Making Myelofibrosis Treatment Decisions? from Patient Empowerment Network on Vimeo.

How can you play a role in your myelofibrosis care? Dr. Joseph Scandura shares his personal philosophy on patient care and the important role of shared decision-making.

Dr. Joseph Scandura is Associate Professor of Medicine and Scientific Director of the Silver MPN Center at Weill Cornell Medicine. Learn more about Dr. Scandura, here.

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Transcript

Katherine Banwell:

Dr. Scandura, what is the role of the patient in making treatment decisions? 

Dr. Scandura:

My personal philosophy is I view myself and my interactions with patients as a partnership. And I have and I bring to this partnership medical knowledge, some scientific knowledge, experience treating patients, understanding the diseases and the biology of the diseases. 

What patients bring is their personal histories, what they want and need from therapy, what their expectations are, where their fears and concerns might be. And as we share our information, I think that provides the opportunity to come to an understanding where the patient can make an informed decision and I can support that decision, that we know what the groundwork has been between us. And so, I spend, often, a lot of time in the beginning with patients kind of trying to understand who they are as people and what they need and expect. And everybody, as you might imagine, is an individual.  

And I present to them the information, and I try to encourage questions so that I know that they understand the information that I’m giving so that they can make a decision in their best interest. And so, I think shared decision-making is the only model I practice.  

Now, patients have different needs, particularly some of my older patients. And, culturally, there are some differences where they don’t want to take that role of being the decision-maker. And so, then my role changes a little bit, and it becomes more to make sure they’re comfortable and understand the direction that we’re going in and, again, always trying to encourage people to take ownership. 

I think, in New York City, that’s not so common. People are pretty well-informed and interested and more than willing to express their opinions.  

And so, I would say it can be very rewarding to come to a decision where patients feel their needs are being met.  

Expert Perspective: Promising Myelofibrosis Treatment Research

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Expert Perspective: Promising Myelofibrosis Treatment Research from Patient Empowerment Network on Vimeo.

Dr. Joseph Scandura shares optimism about myelofibrosis therapy in clinical trials, including excitement about anti-fibrotic agents and how they work.

Dr. Joseph Scandura is Associate Professor of Medicine and Scientific Director of the Silver MPN Center at Weill Cornell Medicine. Learn more about Dr. Scandura, here.

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Transcript

Katherine Banwell:

Dr. Scandura, you mentioned promising research in myelofibrosis treatment. What are you most excited about right now? 

Dr. Scandura:

I think there are a couple drugs that have been in clinical trials that have had activity in a significant subset. So, anywhere from 20 to 50 percent of patients where the bone marrow fibrosis is actually reversed. 

And this is really something that we haven’t seen with other agents. And the approved agents, when that does happen, it’s really in a vast, vast minority of patients. And so, these newer drugs and, often, they’re used in combination with other approved drugs, can reverse the fibrosis in the marrow. And that is what I find most intriguing and exciting. They seem to be well-tolerated medications with predictable and reversible side effects when they do exist. And I think that time will tell if the promise is long-lived or if it’s short-lived. I mean, obviously, new drugs we don’t have the experience with that we really need. 

The clinical trials that are available now with some of these agents are in the last stages before the companies go to the FDA seeking approval for use. 

And so, we don’t have their results from those studies yet. They’re just opening, so sometimes the excitement doesn’t bear out when we do the rigorous clinical trials. But I’m actually quite optimistic about some of these agents, and I think that there is going to really be a sea change in how we treat patients and some of the outcomes we can expect from our therapies.  

What Are the Considerations When Choosing Myelofibrosis Therapy?

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What Are the Considerations When Choosing Myelofibrosis Therapy? from Patient Empowerment Network on Vimeo.

 When choosing a myelofibrosis treatment, how do you determine what might be best for you? Dr. Joseph Scandura shares expert advice, including a review of inhibitor therapy and stem cell transplant.

Dr. Joseph Scandura is Associate Professor of Medicine and Scientific Director of the Silver MPN Center at Weill Cornell Medicine. Learn more about Dr. Scandura, here.

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Transcript

Katherine Banwell:

What are the considerations when choosing treatment for myelofibrosis?  

Dr. Scandura:

I would say in broad strokes, the primary considerations are the patient, what they want, the disease, what our options are, and the overall condition in terms of what are our possibilities for therapy and what is the risk/benefit of some of these different therapies. So, in myelofibrosis, although there’s been a huge amount of research over the past 10 years, really blossoming and are very impressive in, I think, an exciting way, there really are only two therapies that are approved by the FDA in the treatment of myelofibrosis, and those both affect one class of agents. These are JAK2 inhibitors, and those can be ruxolitinib (Jakafi) and fedratinib (Inrebic) are the two drugs that are approved. 

Now, we have a number of therapies that have been used off-label, meaning without FDA approval, so often and for so long that they’re considered alternative standards of therapy. These can be growth factors; these can be biological agents in certain situations. And then, clinical trials is really increasingly a common therapeutic option for patients.  

And then, on the most aggressive side, is hematopoietic stem cell transplant and allogeneic transplant getting blood-forming cells from another person and replacing the entire blood system through transplant. 

Katherine Banwell:

So, who is right for a stem cell transplant? 

Dr. Scandura:

I would say, first and foremost, an informed patient about the risks of transplant and a patient for whom a donor exists, and a good quality donor. Transplant is not an option for some people or if a donor can’t be identified, obviously. 

And it’s a patient for whom the risk balance, the risk/benefit balance is tipped so that the potential toxicity, frankly, of transplant is warranted. Transplant is our most aggressive therapy. Virtually every patient will have significant side effects from transplant. Some of them are short-lived, some of them can be chronic. People die from the consequences of transplant. And so, it’s not something that is considered in patients who are necessarily doing well or are frail. The risk of transplant versus the benefit may not be in favor of transplant at that time.  

My approach for transplant is to get advice from transplant physicians. I’m not a transplant physician, but I have colleagues who I refer to. 

And I refer in myelofibrosis fairly universally fairly early, with the rationale being that this is information. It is not a plan; it is to speak to a transplant, what kind of donor exists. If no donor exists, then transplant is not on the table. If we have a very good, high-quality donor, then this is something that wouldn’t make the decision in itself, but it’s kind of something we can keep in our hip pocket in case we need it. And I think it’s important for patients to understand and have a full and complete discussion with a transplant physician so they understand what that means. You know, it is a significant commitment of time and morbidity, and it comes with risks. 

It is also our only curative therapy. And so, it’s a double-edged sword, and I think informed patients and understanding what the options are are the gateway to any consideration of transplant.