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

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