Gain insight into how patient-identified priorities shape shared decision-making and coordinated NF1 care, and how the Johns Hopkins biospecimen repository is advancing NF1 research.
Understanding the NF1 journey: Patient and caregiver perspectives
- So from my perspective as both a patient advocate and a caregiver, I think patients and caregivers should be partners in research and development. To develop new innovative treatments, the patient voice needs to be heard, and outcomes should be decided together in a partnership rather than involving them very late in the process when clinical trials are running. They should be really there from the very beginning, because patients and caregivers can help to formulate relevant research questions and also to design patient-friendly clinical trials. This approach builds trust and makes it much easier at a later point to recruit patients for clinical trials and to measure meaningful results. The biggest gaps currently between the research perspective and patients' and caregivers' perspective and priorities, I think are quality of life questions. So for patients it matters most how can I go through my daily life and be participating in my life as much as possible. How can I reduce factors that reduce my quality of life, such as pain or mobility issues or psychological burden of the disease. So these are the questions that also should be reflected in the research questions of a clinical trial. And I think by having an ongoing early dialogue with patients and caregivers, this can be addressed. When the goal is to develop a patient-friendly clinical trial, patients and caregivers need to be involved at the very beginning so that you can rule out that there's an unnecessary high burden, for example, of too frequent study site visits, or for example, if the patient information is not clear enough, it's not written in a patient-friendly way. Those are just a couple of examples where patient input can make a true difference in the perception of a clinical trial. But as I said before, also I think the level of trust is extremely important for the decision of a patient to participate in a clinical trial or not. When it comes to shared decision-making, I think it's important that doctors respect the level of involvement that is different from patient to patient and from caregiver to caregiver. So they need to have a continuous dialogue and an open and honest conversation about the needs of each individual. While some patients and caregivers would like to be deeply involved in the decision-making and ask many questions and require detailed information, others feel overwhelmed and would rather need more guidance and a more structured approach. So I think there's no one-size-fits-all solution. It's rather then really developing an understanding of what are the actual needs of the patient or the caregivers. And for those who want to be involved, they need supporting materials that can help them in this decision-making process. Written information, but also, if possible, maybe videos can be used to better explain the information, because we have to be really honest that during a sometimes very stressful and emotional conversation with the doctor, the patient might remember only 20% of the conversation that took place. So to provide information that is needed for patients to truly be involved in a decision-making process is key. So the transition from the pediatric setting to the adult setting is a very crucial part of every patient journey. The needs of the patient change drastically, with a stronger need to be more autonomic. And also for parents, it's an important and sensitive part of the patient journey because they need to give space to the young adults and to let them walk on their own two feet. So this needs to be planned carefully and a guided process and shouldn't start too late. So it's not that this process should start in the year before a patient turns an adult, but rather several years before. And while, again, some patients need more time, more guidance, more support from their parents, others might deal with this transition much better. But again, I think it's important that this is a structured approach, that it is guided and supported with patient information. So to make sure that the patients can live a responsible and self-sufficient life with NF1. And it's also so important that this transition is working, because if patients get lost in this transition period and are not being taken care of an NF1 specialist as adults, this can lead to really high consequences health-wise, because we know that young adults in NF1 have a very high risk of developing malignant tumors. So these can be overlooked or missed, and that's why a continuation of care from the pediatric setting to the adult setting is key. There are many points during the patient journey that, yeah, that are very challenging to both patients and caregivers. I would say the first big challenge is of course learning about the diagnosis, because suddenly, the life of a family with an affected child changes drastically in an instant, and it's hard to adapt and it takes time and also, support and guidance and information. After this diagnostic shock, of course, living with a constant uncertainty that NF1 is causing is another challenge that every patient, every caregiver needs to learn how to deal with. And then, of course, depending on the symptoms that NF1 causes in each individual patient causes of course significant challenges as well. But during the transition process, as I said before, I think the young adults need to learn about their own disease, become experts about their own disease, need to know what to look out for, which symptoms might hint to, you know, a significant change or health risk, so that they don't hesitate and go to consult their treating physician to make sure that nothing is missed. So a lot of responsibility, new responsibility for the young adults, but also a lot of responsibility for the treating physicians to make sure that they are not lost. So in my opinion, when we think about care provided by general practitioners and care provided by NF specialists, to me as a patient advocate, it is clear that every NF1 patient should be seen by an NF1 specialist because most general practitioners have never seen a patient in their lives. So how can they take good care of someone living with NF1? While there's some clinical guidelines available now on a European level, for example, for tumor surveillance, and also on a national level here in Austria, we developed holistic care guidelines for NF1 pediatric and adult patients, only specialists who see a large number of patients have the experience that is needed to identify symptoms early and to make timely decisions. So that doesn't mean that there's no work to be done in the extramural sector, so with general practitioners and also pediatricians. No, they need to be informed and they need to understand where are specialized centers. And also they should learn about the early signs and the first symptoms of NF1 so that they are aware and maybe can already identify patients with a suspected NF1 early, and then know where to refer these patients to. So I think from every country to country this varies, but I'm glad that in most European countries, NF1 patients are seen in specialized centers. When NF1 patients and caregivers are released from the hospital, they also need to be informed well, because as I said before, it's a very stressful time in the hospital, and you might not remember every word that has been said. So written information is very important, and this should be provided in a patient-friendly way, so in a plain language that is understandable to patients and caregivers. The instructions should be clear, and there should always be a contact information in the case that the patient or the caregiver has a question, needs to clarify something, they should know whom to contact and how. So to make sure that, you know, everything is understood and the patients and the caregivers can adhere to the prescribed treatment at home as well. For patients and especially parents of children who have signs of NF1, access to genetic testing is key. Usually the first signs are café-au-lait spots, which appear during the first month of a child's life. But these café-au-lait spots are not sufficient to make a concrete NF1 diagnosis. So rather than waiting for other clinical symptoms to appear later, maybe even years later, they should be having access to genetic testing, because through that, NF1 can very likely then be diagnosed. And this early diagnosis is key to make sure that these children have access to routine NF1-specialized care and can be assessed accordingly so that no NF1-related symptoms are missed. And there's several quite severe symptoms that can happen early in a child's life, like tibial dysplasia or like optic pathway gliomas or very rarely, JMML. So if you have a genetic diagnosis, then you can start with all these routine assessments and you can be sure that the child is not being over-treated. On the other hand, if you don't have a confirmed diagnosis through genetic testing, all these procedures might not be initiated, and the child might not be seen by an NF1 specialist at all for several years. And again, all these quite challenging and potentially dangerous symptoms might be missed. So genetic testing is key to make sure that NF1-specialized care is initiated as early as possible. What I maybe would also mention to clinicians who are watching this is that patient organizations can be your partners and can also be an important part of the care infrastructure in every country. If patient organizations and NF specialists work together closely, they can improve, you know, information, the whole experience for the patients. They can improve services and also make sure that research is going in the right direction. So please reach out to the patient organizations if you haven't done so yet in your countries and build a sustainable partnership with them.
Patient advocate Claas Röhl (NF Kinder Austria) offers a patient and caregiver perspective on the complexities of NF1 care, noting that “there is no one‑size‑fits‑all approach… understanding the individual needs of patients and caregivers is key to shared decision‑making.” He reflects on challenges across the NF1 journey – from trial design and coordinated handovers to genetic testing and long‑term surveillance – highlighting where structured approaches and early dialogue can support more effective, patient‑centered care. View transcript .
Chapters
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Chapters 00:00 The Johns Hopkins NF1 biospecimen repository
NF1 AT EANO 2025
- The Johns Hopkins NF1 Biospecimen Repository was born out of the concept that major scientific advances in the field of NF1 research was limited by access to primary human tissue, and in some cases adequate models that reflect the major NF1 disease manifestations. At the Johns Hopkins Comprehensive NF Center, we care for a very high volume of patients and those patients during the course of their care may need biopsies, for example, of a concerning lesion and in some cases surgeries to remove tumors that may range from benign to malignant. And so we knew that if we banked those tissues and corresponding blood samples from people with NF1, we could build a resource that would fuel research in many different domains. What's important to us and has been a key driver of the mission of NTAP funding is that the samples can support research not only at Johns Hopkins but worldwide. We know that there are fantastic research ideas led by diverse and really, really motivated scientists that simply in the past couldn't truly be realized because those scientists or those institutions didn't on their own have sufficient samples to analyze. So really what we've built allows any researcher with an important scientific question to reach out to us, and for the most part, we've been able to fulfill every request that comes our way. What we've also learned is that the clinical annotation of the samples is critical. So for instance, the researcher who we are supporting may have additional questions about patients after they've done their preliminary analysis. So our corresponding clinical database can become more of an interactive experience with scientific exchange back and forth that truly advances the analysis and ultimately the discoveries that come out of this research. We've learned that when we truly understand as much as we can from every patient from whom these samples originated, the clinical implications of the discoveries is most impactful. And what's also important to note is that we do all of this in a way that respects the necessary protections for patient's privacy. What distinguishes this biorepository in terms of genomic characterization is that a large number of samples on the order of about 150 to 200 samples have undergone genomic sequencing using whole exome and subsequently whole genome as well as bulk RNA sequencing. These sequencing data are then stored in the NF data portal, and we published the bulk of them in a paper that came out in scientific data in 2025, so that other researchers can download and use that either alone or in combination with other data sets to interrogate their own scientific direction. In many cases, the same samples that have been sequenced are also stored either in the freezer or in paraffin blocks in our lab. So when investigators are receiving samples, it's very possible that the corresponding genomic data already exists. Every sample then has a unique identifier. So the researcher knows that they can use these matched genomic data and see how the data support or add depth to the question that they're asking in their lab. We have already begun to see how the genomic insights that are derived from the NF1 biobank can advance understanding of tumor progression and in some cases malignant transformation. What's important to recognize is that the biobank itself is meant to be the resource, not the main discovery engine. So our goal has been to get the useful data out there to support as many scientists as possible. An example of this is a discovery made by Wade Claps lab, where they identify DLK1 as a marker that's up-regulated in malignant transformation, and then using Hopkins Biobank samples, they were able to validate this finding in an independent cohort, which is scientifically validating and also adds important rigor to the discovery. Based on this, the field is now looking forward to testing how drugs that target DLK1 may or may not be useful to treat people with malignant tumors. And what's important to recognize about the samples in the NF1 biobank and perhaps the limitation in some ways is that they aren't what we would call scientifically controlled. So they're not coming from patients who are on a trial or patients who are all treated in an identical way, for instance. Sometimes we have but not always a corresponding pre-malignant tumor that may have predated the malignancy by some timeframe, say a year or so. But we only would've bank that tumor if the clinician's taking care of that patient had a reason to do that surgery or biopsy. In other words, it was clinically indicated. So that means that sometimes what could be a very revealing tumor sample was not made available for research. Sometimes we might wish that we had specific pairs or sets of tumors that would be perfect for the research question. But the bottom line is that we do our very best to collect every tissue that is made available, but those are only on the basis of clinically indicated procedures. Some of the practical considerations for clinicians, especially those practicing outside of specialized NF centers, is that we have so much to learn about the biology and risk factors that underlie the many manifestations related to the NF1 condition. We've found that our patients are living with a condition that in many cases may result in pain or disfiguring or cosmetically challenging tumors or symptoms related to nervous system or motor dysfunction. And they are just on the whole so incredibly motivated to support research on their own condition. Many of the families we care for have more than one affected family member, and in some cases, they may have watched a family member struggle, and this definitely adds to their desire to want to be part of something bigger that changes the field and treatments that can make it better for other people with NF1. So we definitely want to encourage physicians outside large NF centers to consider what a referral to a specialized NF center may do not only for individual patients, but on the whole for the advancement of research in the field of NF1. What we're finding is that the biorepository in its current form, can drive the future of NF care. What we've seen, especially in the past five years, is a dramatic increase in the number of collaborations fueled by the biobank. And really, collaboration has such a strong presence in the NF1 research field. You often see multiple groups from institutions across the US and Europe and beyond bringing their discoveries and unpublished early findings to conferences and collaborative settings. And there's really just this feeling that being whole is better than the sum of its parts. It's been really rewarding to see how the biobank has been part of that growth. So the next steps, as you can imagine, are to ensure that we build upon the lab discoveries and make sure that we have the clinical infrastructure that allows the translational potential. These steps, such as clinical trial awards and cooperative group infrastructure require collaborative approach and willingness by all scientists to bring the best science forward and make sure that it gets to patients. The care of patients with NF1 requires specialty input from so many different teams. Usually the primary care of a patient with NF1 involves a dedicated NF1 team, and these are often neurologists or in some cases geneticists or sometimes oncologists because of the risk of malignancy. But key input is also needed from surgeons, including neurosurgeons and orthopedic oncologists and radiologists who very often are doing their own research to build and develop tools to understand how they can spot malignant transformation and tell us which areas on a scan needs to be watched or biopsy. Our patients also have input from so many other teams, including dermatologists, ophthalmologists, spine surgeons, plastic surgeons, just to name a few. And the more eyes to have on the patient, the better, because each team can bring a unique expertise that ensures that the patients are really well taken care of.
Meet the experts
Claas Röhl is a patient advocate specializing in neurofibromatosis and rare diseases, and Founder and President of NF Kinder Austria. Following his daughter’s diagnosis with NF1, a rare genetic tumor risk syndrome, he began his path into patient advocacy. Through building national and international networks and investing in care and research infrastructure, he helped establish the first Austrian center of expertise for neurofibromatosis in partnership with the Medical University of Vienna.
Disclosures: Founder and President of NF Kinder Austria, Founder of EUPATI Austria, and former President and Co‑Founder of NF Patients United. He also holds multiple advisory and representative roles, including ePAG member in ERN GENTURIS, registered patient expert at the European Medicines Agency, Vice President of Pro Rare Austria, and member of national oncology and rare disease advisory bodies. He reports no financial conflicts of interest.
Christine Pratilas is a pediatric oncologist at the Sidney Kimmel Comprehensive Cancer Center and Professor of Oncology, Pediatrics, and Cellular and Molecular Medicine at the Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. Her research focuses on dysregulated RAS–RAF–MEK–ERK signaling in cancer, with particular emphasis on NF1-associated tumors and pediatric sarcomas. Her laboratory investigates molecular drivers of tumor progression and resistance to targeted therapies, with the aim of informing novel treatment strategies. Clinically, Pratilas specializes in the care of children, adolescents, and young adults with sarcomas, including malignant peripheral nerve sheath tumors, and is actively involved in the management of NF1 and other cancer predisposition syndromes.
Disclosures: Consulting relationships with AstraZeneca, Day One, and Roche/Genentech. Research funding from Kura Oncology and Novartis.
