Blog

On February 1st and 2nd of this year, approximately 70 healthcare providers and patient advocates came together at St. Jude Children’s Hospital to brainstorm solutions to gaps and challenges for histiocytosis research. The Histiocytic Disorders Workshop (HDW) was spearheaded by leaders of the field: Carlos Rodriguez-Galindo, MD, Carl Allen, MD, and Eli Diamond, MD through the North American Consortium for Histiocytosis (NACHO).

The objective of the workshop was to gather a diverse group of senior and junior scientists across adult and pediatric diseases, HLH and histiocytic neoplasms, who were eager to align priorities and approaches to research in these diseases as well as patient advocates who could represent the voice of the histiocytosis community.

Despite important advances in the science of histiocytic disorders, key knowledge gaps exist. The histiocytic neoplasms have been recently recognized to be hematopoietic cancers (rather than autoimmune diseases) with the discovery of recurrent somatic mutations in the mitogen activated protein kinase (MAPK) pathway. This discovery has led to implementation of targeted (BRAF/MEK) inhibitor therapies and FDA approval of two agents (vemurafenib and cobimetinib) for adults diagnosed with LCH, RDD, and ECD. Although current treatment standards benefit most patients in achieving cure, many will still experience recurrences that result in long term effects.

To say this workshop was groundbreaking feels like an understatement.

There has been one treatment, emapalumab, approved for relapsed primary HLH but other forms of HLH have limited treatment options.

Working as One

In order to advance science to benefit all patients affected with histiocytosis, there is an urgent need to harmonize the conceptualization and execution of observational and therapeutic trials across histiocytic disorders. In addition, there is a need to incorporate emerging scholars who are the future thought leaders for the histiocytoses. There is also a strong need to foster more patient and stakeholder engagement in histiocytosis research to enhance its patient-centeredness. Inclusion of patient and stakeholder perspectives from the earliest stages of research is necessary to ensure that research is responsive to the needs and priorities of the community.

To say this workshop was groundbreaking feels like an understatement. I was not only excited, but inspired and filled with hope when the idea was presented. I had the fortune of helping with the planning of the agenda and worked with the meeting leads to determine how best to involve the patient-voice and perspective by inviting members of the histiocytosis community to attend the event, sit on panels, and engage in the discussions. I was even more hope-filled leaving the two-day session.

The Workshop Topics

Over the course of the two days, we discussed many topics and workshopped solutions we could implement in the future to meet our objective. One of the topics was to discern ways to Develop a Common Data Dictionary for LCH and HLH, which can help us to harmonize research projects around the world. Some of the benefits include helping to detect errors and anomalies in data, enabling collaboration and crowdsourcing, data quality checks, saving time on data discovery and enabling reliable reporting.

Another topic was centered on Biomarkers and Response Assessment in Histiocytic Disorders. Biomarkers are important for identifying a drug’s mechanism of action, helping to understand toxicity and efficacy signals of a treatment, and identifying patients who are likely to respond to a particular therapy. They have a role in helping to fine-tune personalized medicine or healthcare. What is a Biomarker? Biomarkers are created either by impacted areas of the body (e.g., tumors) or in response to various conditions. Response criteria are the metrics that are important to researchers and patients/families to understand how a therapy is performing. Sometimes the response criteria that is important to a provider/researcher is not the most important to a patient/family. For example, a response criterion might be the tumor size shrinking; but it can also be decreased pain. Both might be important but without patient-family input, the provider might not know that decreased pain is just as important and can show impact of a treatment as the reduction of the tumor. Having these discussions for histiocytosis is an important next step to help determine the direction of research and drug development.

Some other topics of discussion included Expanding Engagement with Patients and Stakeholders in Research, Solving the Time to Diagnosis Problem, Career Enhancement for Providers and Early Career Professionals, and Diversity/Inclusion in Research. There were a variety of presentations with stakeholders from the National Institutes of Health, Food & Drug Administration, Patient Centered Outcomes Research Institute and others. The breakout sessions had participation from providers across North America and Europe, as well as patient advocates including advocacy organizations. The discussions were robust, future focused, and enlightening.

---

Springboarding to More Progress

While I felt as though more follow up conversations are needed (and absolutely will happen), the workshop laid a foundation for us to springboard from for years to come. It highlighted the importance of collaboration, illustrated the gaps and needs for research and patient-community, and enabled us to establish an alignment of where we need to go from here.

I am invigorated and inspired by our amazing histiocytosis community – from the passion and commitment of the providers to the expertise and dedication of the patient advocates – it is our hearts and unflappable desire to move ever forward that has brought us to where we are now and will certainly bring new advancements in the very near future.

I look forward to sharing more with you in the coming months and to realizing the power and importance of this workshop. With gratitude to all who helped to plan this workshop, who participated in the workshop, and who helped to make this possible through grant funding — we are forever appreciative!!