Welcome from our CEO
Dear all,
Welcome to Alport UK’s July round-up!
It’s been a busy month at Alport UK, from the London Information Day on 4 July to the preparation for The 2026 International Workshop on Alport Syndrome in Budapest in September. There’s been plenty happening.
We hope you enjoy catching up on the latest news and thank you for being part of Alport UK’s community.
Have a great August,
Susie
PS: click on the icons below to follow us on social media!
Support
Highlights from the London Information Day
More than 80 members of the Alport community came together in London on 4 July for a day of expert talks, inspiring patient stories and meaningful connections. From the latest research updates to conversations between families, the day was filled with learning, information and support.
Take a look back at the highlights, photos and key moments from this special event.
Information
How one Facebook post changed a family’s life
When Sarah’s kidneys began to fail, her mum, Margo, hoped to donate one of her own. But because she has an Alport genetic variant, she was told she couldn’t.
Everything changed after Sarah came across a post in the Alport Warriors Facebook community. It led her family to ask one more question – and ultimately gave Sarah the gift of a life-changing kidney transplant.
Could this be the first Alport character on Netflix?
One of the Alport Avengers recommended the new Netflix series My Daughter’s Father (El otro padre), which features a main character living with Alport syndrome. The series focuses more on family relationships and personal drama than on the medical aspects of Alport, but it’s encouraging to see the condition represented on screen.
Have you watched it? We’d love to hear what you thought. Did it reflect your experience of living with Alport syndrome? Let us know by replying to this email.
Research
New clinical trial by Eloxx
Eloxx pharmaceuticals launched the EXACT clinical trial (EL-017), which is testing a treatment for Alport syndrome patients with a nonsense mutation in COL4A3/4/5 genes.
You can only find out if you have a nonsense mutation through genetic testing. Key signs of a nonsense mutation are the word ‘nonsense’ or ‘stop’; or a change ending in ‘X’ or ‘*’ or ‘ter’ – for example, p.Arg123X.
The trial is open to people aged 12+ with Alport syndrome and a nonsense mutation.
To find out more or check if you may be eligible, please contact the Royal Free Hospital Renal Research Team via email: rf-tr.renalresearch@nhs.net
Alport as ‘an extended clinical spectrum’
A new international perspective published in the Journal of the American Society of Nephrology (JASN) proposes a fresh way of understanding Alport. It introduces the concepts of ‘Alport risk’ and ‘Alport syndrome’, recognising that Alport exists as an ‘extended clinical spectrum’, from mild to more severe forms.
The writers are inviting feedback from people living with Alport, families and healthcare professionals.
A new paper on the importance of early diagnosis
Alport UK’s CEO, Susie Gear, was invited to write a new article in Nature Reviews Nephrology exploring why earlier diagnosis of rare kidney diseases can make such a difference.
The article highlights how early diagnosis can improve access to treatment, genetic testing and family screening, helping people preserve kidney function for longer and giving relatives the opportunity to be diagnosed sooner.
Collaboration
Launching the HEAR-ALPORT project
We’re delighted to introduce HEAR-ALPORT, an exciting new research project led by the University of Birmingham that will explore how hearing loss affects people living with Alport syndrome.
By listening to the experiences of patients and families, the project aims to develop the first tools specifically designed to measure the real-life impact of Alport-related hearing loss—helping pave the way for future clinical trials and new treatments.
Events
Join us in Budapest this September
Registration is still open for the 2026 International Workshop on Alport Syndrome, taking place in Budapest from 5 to 7 September. Bringing together people living with Alport, families, researchers and clinicians from around the world, the workshop offers a unique opportunity to hear the latest scientific advances, exchange ideas and build new collaborations.
This year’s programme features an outstanding line-up of international keynote speakers and has already attracted more than 74 poster submissions, showcasing the latest research across genetics, nephrology, hearing, ophthalmology and emerging therapies.
Fundraising stories
Kamran’s story: finding answers through early diagnosis
When six-year-old Kamran was taken to hospital with stomach pain, a routine urine test revealed something no one was expecting. That chance discovery led to an early diagnosis of Alport syndrome, giving his family the opportunity to act before symptoms progressed.
In this heartfelt story, Kamran’s mum, Zahra, shares their journey, the support they found through Alport UK, and why they’re now fundraising to help other families.
Lucas’ story: “I’m chasing my pro bodybuilding dream while living with Alport syndrome”
Lucas Reid is 23 and lives in the United States. Diagnosed with Alport when he was 15, he is living with Stage 3b kidney disease.
On 22 August, he will step on stage in an attempt to earn professional status in Men’s Physique bodybuilding – a remarkable achievement for anyone, and especially for someone living with Alport syndrome.
Lucas is fundraising for the Alport Syndrome Alliance to support research, raise awareness and help create a better future for people living with Alport syndrome.
If Lucas’s story inspires you, please consider making a donation. Every contribution, no matter the size, will help support families and accelerate research into new treatments.
Help us make a difference
Everything we do is made possible by people like you. Your support helps us provide trusted information, connect families, drive research and build a brighter future for people living with Alport.
