Atypical HUS: Not Like the Others

Article No. 396

26 November 2020

Considerations for aHUS Patient Engagement

Atypical HUS is a very rare disease, with certain characteristics and advocacy concerns that set it apart from others of the estimated 6 to 7,000 rare disease populations. It’s notoriously difficult to diagnose aHUS apart from other diseases with similar symptoms, which can delay early and appropriate treatment. People with this rare disease may experience episodes which are severe and unpredictable in duration. Life-threatening complications from aHUS can damage not just the kidneys but also the functioning of vital organs like the heart, lungs, and brain, therefore requiring medical care across several specialty fields.

Some people live with ongoing and chronic aHUS activity, while others experience it as infrequent episodes of illness. Family genetic testing may indicate a common mutation which predisposes its members to aHUS, yet some escape the perfect storm of ‘triggers’ to activate the disease and can remain disease-free according to clinical measures. Most medical conditions are more consistent in how they impact patient health, the type and duration of treatment, and prognosis or expected patient outcomes. Companies wishing to engage in discussion with patient advocates, or to survey patients, need to include the insights and varied experiences across the many aHUS clinical subtypes. Atypical HUS doesn’t follow a predictable course of symptoms or treatment, and it’s for those reasons (and more) that the field of aHUS advocacy is different from other rare disease groups.

Perhaps it’s a surprise to know that both multiple sclerosis (90 patients per 100,000 people) and cystic fibrosis (25 patients per 100,000) meet the definition of a rare disease. Patient organizations for rare disease groups with large patient populations are often well established and conduct fundraising activities in order to raise awareness and provide resources. Diseases with very few people affected may be considered ‘ultra-rare’ and their advocacy groups must do more, with less. Time, money, and capability are valuable assets for even large organizations, so in the ultra-rare arena partnerships are critical, with joint endeavors either as international efforts or under the auspices of a national genetic or rare disease banner. While a few national aHUS patient groups may receive funding or have small stipends dedicated for contractors, that’s more the exception than the rule. What does this all mean for companies who wish to engage with aHUS advocates for purposes such as panel participation, conference attendance, roundtable discussions, review of publications, survey or marketing efforts, and clinical trial engagement?

What happens when a rare disease population is so small that its patient organizations are composed of volunteers in different nations, each with different structures, composition, and regulatory environment? If people are planning initiatives, projects, or research in the aHUS space, there are a few practical points to ponder. Be proactive, and know the landscape regarding this ultra-rare disease. After identifying patient groups, explore their website articles and social media to gain insight into what matters to aHUS patients and compare what broadly affects people in multiple nations. No business or individual would seek to partner with others without knowing their interests and abilities, usually a primary step when considering any type of collaborative effort.

Common issues are likely to arise, so what guiding questions must be considered to plan for and navigate matters likely to occur when industry meets aHUS advocacy? For research teams, clinical trial leads, communication or survey firms and others might ponder these points before launching initiatives in the aHUS arena.

Regarding institutional memory and prior contacts, have others in your organization been in contact with these aHUS advocates? If so, how has past information gleaned from those calls and meetings been relayed throughout a company? If not, what’s in place to ensure that new information is shared across all branches of an organization or if personnel changes occur?


Identification of key opinion leaders (KOLs) is an early step, but for what meaning and relevance? What is their role in collaborating with others, and how will they be integrated at various steps? With whom do those aHUS advocates engage, on what levels, within their nation or internationally, and to what result or outcome? How can one determine which individuals in the advocacy space are less visible, but are critical to include due to their high engagement or leadership in efforts of mutual interest? 


Information does not flow in one direction, nor does it occur in a single language. Don’t assume all parties are on equal footing, or have comparable background regarding legal aspects such as international regulations or confidentiality agreements. Not only do policies differ for various nations, but patient engagement for clinical trials may also differ according to the stages and progress. During informal conversations with individuals or advocacy, consider asking a consistent set of questions which helps your company better understand the interactions, experiences, and concerns of advocates. Before asking patient organizations to ‘buy in’ to projects, has a relationship been built where there’s been an exchange of ideas as well as information?


Broad participation can be challenging when a company pursues patient engagement but adult patients and/or caregivers are tied to their own work schedules. Atypical HUS advocates have had contacts which assume we can accommodate conference calls and travel to meetings like their own corporate employees. We are not. Given that, aHUS advocates utilize off-work hours or sometimes assume a penalty such as use of ‘comp time’, vacation days or docked pay in order to participate in discussions and events. Time allotted for medical care, caregiver responsibilities, and home/work balance are all considerations when industry needs are in counterpoint with patient engagement realities. 


Dealing with legal issues which occurs commonly in business or academia, to include compliance, and contractual documents. Given that atypical HUS is an ultra-rare disease, know that aHUS advocates may not be familiar with tech or legal aspects, and few are suited to meet  industry expectations if there’s a need for a quick turn-around of a CDA or legally-binding contract. Patient advocacy groups that are large may appoint representatives to engage in conversations and initiatives and have insurance/legal standing to sign contracts, but that is uncommon in aHUS advocacy. What options exist – and availability in what languages – for individuals or small groups when opportunities arise to participate in discussion of confidential matters such as clinical trials or pre-publication research? 


Corporate timelines are critical, and regulatory guidelines and compliance are vital aspects to consider as well. What results are likely when aHUS volunteer advocates are asked to adhere to business expectations, corporate interests, meeting schedules, or publication deadlines? How well do different corporate branches keep on the same page regarding initiatives that are ‘patient facing’? Do patient organizations see research or investor releases which blindside them regarding major announcements or events? What solutions exist to any barriers in this process?

Establishing a relationship with partners is critical prior to launching any initiatives, with both knowledge and respect playing a part in that mix. Atypical HUS patients have very different clinical profiles and patient experiences, making it even more vital to review advocacy websites and social media to gather an in depth understanding of the aHUS landscape. Knowing your project goals and target audience is key for any initiative, which also holds true regarding the importance of a thoughtful approach to aHUS patient engagement efforts.
We encourage readers to read the original content of our website by reviewing our Resource Page of the aHUS Info Center.  Among the multiple articles on topics touched upon here, we offer this partial list below. FMI email us at or visit our Contact Us Page.

Breaking Down Barriers in aHUS Clinical Trials

Patient Engagement: A Reality or Merely Buzzwords?

4 Myths of Rare Disease Advocacy

2020 aHUS Therapeutic Drug Landscape:  an Overview

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