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Table 2 Final questions and priority research areas from patients with aHUS and the aHUS Alliance

From: An innovative and collaborative partnership between patients with rare disease and industry-supported registries: the Global aHUS Registry

Topic Questiona Scoreb
1. Disease onset • How transient is aHUS due to pregnancy and is there a role for prophylactic eculizumab in some cases? 10
Does the incidence of aHUS vary in different environments e.g., urban, rural, coastal? 5
Are hormone changes during key life-stages a significant cause of aHUS onset? 5
Can boys with aHUS on-set at a young age grow out of it? 3
Do annual cycles in immune activity predict a time of year when aHUS onset is more likely? 2
Are those over 60 years-old with a genetic predisposition but no previous symptoms unlikely to develop aHUS or are they still at risk? 0
2. Diagnosis • What are the barriers to diagnosis, and how can they be overcome? 15
• Can the degree of kidney function recovery be predicted by the time between aHUS onset and diagnosis/treatment? 9
Is there a “golden period” for diagnosis which can predict more favourable outcomes for patients with aHUS? 8
3. Eculizumab treatment • Is it possible to ensure the effectiveness of eculizumab in the body? 9
For how many days does eculizumab remain effective following administration and does it vary between patients? 0
4. Clinical effects • What are the outcomes of a transplant without eculizumab and what non-kidney damage is likely from any resulting aHUS onset? 20
What is the incidence of (multi-organ) co-morbidities with aHUS for adults and children? 0
Are there differences between adults and children in terms of co-morbidities? 0
5. Psychological/social effects Is there any evidence as to whether not knowing the genetic cause or undergoing genetic testing causes the most anxiety? 4
What is the impact on the working life of adult patients with aHUS and carers of patients with aHUS? 0
What is the impact on education for children with aHUS? 0
What is the attitude of parents towards genetic screening of children? 0
What are the comparative self-esteem levels of patients with aHUS undergoing different treatment modalities? 0
To help family planning decision, can a risk matrix of the potential harm to a mother or child be developed? 0
6. Self-monitoring • Can a blood test be developed to allow patients in remission to monitor themselves? 9
7. Patient differences What is the spectrum of the aHUS cohort in each country, and are there significant differences between them? 2
Is it possible to predict which patients will have the longest time in remission and which will be at the highest risk on new aHUS onset? 1
Does the spectrum of the aHUS cohort in each country change over time? 0
What is the frequency of my specific genetic predisposition in my country and other countries? 0
  1. aQuestions have been reproduced as formulated by the patient groups with only minor editing for clarity
  2. bCountries comprising the aHUS Alliance were invited to vote for up to five research questions, which were scored as 5 points; most interesting, to 1 point; fifth most interesting. The sum of the scores received are reported. The top scoring questions are shown in bold