When Jeff, the producer of these awareness day videos, suggested that “questions” should be the theme of this years’ RDD Video I was surprised. Surprised because it had been five years since it was last a theme for a video. But thinking about it ,doing it again would be helpful. To know what the aHUS community are thinking matters to them in 2022 . At an early point in a new decade for aHUS. The previous decade having begun with a newly emerging drug called eculizumab which made such a difference, where available. But the 2020s hold out much more hope for many more patients with an unmet need.
The video can be viewed at this LINK
It also reminded me that the 2017 video was the final piece in the jigsaw for an aHUS Patients’ Research Agenda. The creation of an agenda had begun in 2015 with a “suggest fest” of priorities for aHUS research at an aHUS alliance meeting( see featured image for the original flip chart) .
It was then built on in an Alliance Global Poll in 2016 when participants were asked what aHUS questions they would ask aHUS researchers.
The topics from the three sources became the basis for a Global aHUS Patients’ Research Agenda which was adopted by the Alliance in November 2018 and which was announced on RDD2019. The 15 topics in the Agenda are now what we tell aHUS researchers when asked what matters to aHUS patients about their disease?
So does it stand scrutiny from what the RDD2022 cohort has said matters to them? It turns out it did not do too badly. In the table below I have placed the names of the 68 “RDD2022 questioners'” topics against the agenda item to which they are most related. Some of the questions related to more than one topic so these have been split between two agenda items and the questioners name included twice! Scan the table and names and get an impression of where the names are distributed across the Agenda
Summary of RDD2022 Questioners topics that matter
| Agenda No. | aHUS Research Topics ( abbreviated) | Questioners |
| 1. | aHUS causes and precautions | |
| 1.1 | Genetics and Triggering Risks | Donna, Elizabeth, Dorota, Chen, Zinoveiva, Harry, Pamela, Jackie, Lucy, Teagan, Samir |
| 1.2 | Family Testing To do or not to do | Donna |
| 2. | aHUS Diagnosis | |
| 2.1 | Best Diagnosis timeline | Cheryll, Nikolay, Sonia, April, Raven |
| 3 | aHUS Treatment | |
| 3.1 | Optimal delivery method | Darcey, Carine, Sofia, Mira, Landon, Isabella, Pamela, Jennifer, Fad Phoenixx, Brooke, Kamiryn, Carsten |
| 3.2 | Affordable access | Heitor, Margriet, Michael, Vea, Sofia, Kamal, Andrea, Wim, Wen, Mohammed |
| 3.3 | Genetic testing cost effectiveness | Andrea, Lexi, Tre, Pamela |
| 3.4 | Stopping eculizumab treatment safely | Nikolay, Sonia, Angie, Amanda, |
| 3.5 | Transplant eculizumab before of after | Ellen |
| 3.6 | aHUS Cure | Samantha, Israel, Ashley |
| 4 | aHUS Impact Clinical/ Psychological | |
| 4.1 | Remission Studies | Chen, Yoann, Joris, Timir, Lisa, Zinovieva, Paige, Amy , Jill, , Savanna, Nikolay, Jaxson, Amanda |
| 4.2 | Side effects /temporary permanent ailments | Geraldine/Patrick, Dawson, Enzo, Debbie, Danielle, Lisa, Tori, Stephanie |
| 4.3 | Anxiety and Self esteem | Geraldine/Patrick, Paige, Tori |
| 5. | aHUS Impact Socio-Economic | |
| 5.1 | Impact on school and work | Sebastian, Maren |
| 5.2 | Family Planning Information | Butz, Nadja, Merve, Savanna |
| 5.3 | Number of and differences in HUS patients | Rylee, Grace, Albert |
My aim now is to try to answer all the question and give a current state of play for each aHUS research topic. This may take some time to do!
What can be said immediately though, is that the aHUS community’s interests and priorities have changed. Although each agenda item has had least one question, some have more than others. In 2015 transplant and pregnancy were key issues, In 2016 eculizumab access was more prominent as well as possible withdrawal from treatment ,similarly in 2017.
For RDD2022 questioners “remission chance studies” , “side-effects and ailments”, “genetic causes and triggers” “affordable access”, and “alternative drugs and methods of delivery” are the top issues. But all questions are important and collectively drive research on what matters to all. The 2022 community wants to know more about its disease, its treatment and the long term effects of both.
Once all replies are given I will see whether amendments need to be proposed to make the Research Agenda better.
Rare Disease Day 2022 was a week ago but on this website it is not forgotten. And what happened will have a lasting effect.
Len Woodward
aHUS alliance Global Action
Article No. 487
