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Uniting to meet the challenge of Alport syndrome

31 May 2024

We caught up with Professor Rachel Lennon, Director of the Stoneygate and Kidney Research UK Alport Research Hub – a collaboration funded by the Stoneygate Trust in partnership with Kidney Research UK that aims to enable vital new research into Alport syndrome.

Alport syndrome is a rare genetic disorder and the second most common cause of inherited kidney disease. It is caused by changes in the genetic code for a particular type of collagen, which is an essential protein in the kidney’s filtering system. Changes to this collagen leads to progressive loss in kidney function and can also cause hearing loss and eye problems.  

Designed to transform awareness, improve understanding and to accelerate new treatment options for patients living with Alport syndrome, the Stoneygate and Kidney Research UK Alport Research Hub funds laboratory research as well as supporting a virtual network of researchers across the UK.

Professor Rachel Lennon, funded researcher
Professor Rachel Lennon

Thank you for talking to us Rachel! Please can you give us a quick overview of the Hub and how it works?  

When the Stoneygate and Kidney Research UK Alport Research Hub was established in 2022 it marked an innovative approach to research into rare conditions, such as Alport syndrome. By bringing together the expertise and resources that already existed in the UK, we have been able to form a unique partnership not only between hospital and university groups, but also charity and commercial partners. This approach will allow us to answer some of the most important research questions for patients and families living with Alport syndrome. 

The Hub has two main parts. The first is the physical Hub based in laboratories at the Manchester University where we use a range of experimental systems to understand more about how genetic changes lead to Alport syndrome and to test new approaches to treatment. Some of our work is investigating medicines that are already known to be effective (such as ACE inhibitors) to understand more about how they are working. But we also work with other partners from universities and commercial organisations who want to study how their new treatments might work for patients with Alport syndrome.  

The second part is a virtual hub which specialises in careful use of healthcare records and patient data from individuals with Alport syndrome who have generously agreed to share their information. RaDaR (The National Registry of Rare Kidney Diseases) includes more than 1,000 individuals with changes in the genes that we know cause Alport syndrome.  

Introducing RaDaR  

RaDaR was set up in 2010 with funding from Kidney Research UK and Kidney Care UK and is supported and coordinated by the UK Kidney Association. It is a system that stores important long-term data and information about people in the UK with rare kidney diseases, including where they live, any treatment they are receiving and how they are responding to that treatment, as well as relevant blood test and imaging results.   

RaDaR is the largest rare kidney disease registry in the world and has recruited more than 30,000 patients from 109 UK hospitals. Its goals are to:  

  • Learn more about how rare kidney diseases develop and progress over time.  
  • Study the long-term effects of treatments.  
  • Create a system to help with research on specific rare diseases and other smaller registries. 

We have been working hard to make sure that we have the right information to support our research projects. We will be collecting DNA samples to look more closely at the genetic causes of Alport Syndrome and better understand what other factors might impact an individual’s chances of developing kidney failure and hearing or eye problems. 

Why is this programme so important for Alport Syndrome? 

When we began planning the Hub, we were challenged consider a new way of working. Because Alport syndrome is a rare disease, we have pockets of interest and expertise at different locations across the UK, so to deliver the biggest impact for our patients we needed to develop a new way of working together in a planned partnership.

This led to us forming the Stoneygate and Kidney Research UK Alport Research Hub; without the vital funding from these two groups our considerable progress would not have been possible. This funding model is working well for Alport syndrome and could be applied to other kidney diseases.  

You’ve talked a lot about patients; how are they involved in the Hub?  

We are so fortunate that the Alport patient community are incredibly engaged and supportive of our work, from the basic science experiments in our labs right through to projects looking at developing new treatments. We have a regular programme of laboratory visits so that our patients can see work in progress, and they also support development of new materials to communicate the research to a wider audience. 

By working closely with Kidney Research UK and Alport UK we are also able to draw on their strengths to make this a true community effort. We’re also looking forward to our upcoming patient day.

"Hearing updates from the Alport Research Hub is inspiring for people living with Alport Syndrome. The Alport Research Hub is accelerating knowledge and treatments for this rare disease, and unites a community of scientists, researchers and patients, who all want to see transformed understanding, earlier diagnosis and new treatments for Alport syndrome." Susie Gear, Alport UK

The Hub launched in summer 2022, please can you share some of your successes to date? 

We’re really proud of all we have achieved so far, but there are a couple of examples that particularly stand out. In the Physical Hub we completed laboratory research to test a potential new treatment and this has now progressed to a clinical trial in patients with Alport syndrome. 

We were also able to support recruitment into a clinical trial for a group of patients with a particular type of genetic defect causing Alport syndrome. Identifying the individuals was only possible with information from RaDaR.  

We’ve also just started some new work on how pregnancy can affect kidney health in patients with Alport syndrome. 

Opening event of the Alport Hub
Sandra Currie and Sir Will Adderley at the official opening of the Alport Hub

What lead you to focus on Alport Syndrome for your research?  

I trained as a children’s kidney doctor and I have looked after many children with kidney failure due to genetic causes, including Alport syndrome. I am also based in the Manchester Cell-Matrix Centre where we have expertise in the biology of extracellular matrix proteins such as collagens. These are a key part of the problem in Alport syndrome and so I can combine my expertise in matrix biology to a very relevant condition affecting children and young people. 

What opportunities are there for researchers and patients to get involved?  

Alongside our well-established patient engagement programme, we support an outreach group to help patients and their families to understand the work of the Hub. In July we will also be hosting two exciting events and looking to fund a new researcher as part of the next Kidney Research UK grant round in June 2024.

Alport Research Hub Symposium

Join us for the 2024 Alport Research Hub Symposium on Friday 5 July, 10-4pm at the Michael Smith Building Lecture Theatre, University of Manchester. Chaired by Professors Rachel Lennon, Danny Gale and Neil Turner, this will be an interactive day dedicated to sharing the latest news and approaches in Alport syndrome and updates from the Alport Research Hub.

Register for your place by contacting Anna: Anna.Fildes@manchester.ac.uk 

Find out more

For more information about the Alport Hub, visit their page on The University of Manchester website. 

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