Throwback Thursday to when the RaDaR team presented #AlportSyndrome data at the FDA in Washington DC.

David Pitcher, Dr Katie Wong & Prof Daniel Gale took part in discussions on using surrogate endpoints to accelerate clinical trials - a key step toward new treatments.

🔗https://ow.ly/lKNe50XJBsj

From screening to strategy: Clinical implications of COL4A3/COL4A4 variants found in reproductive genetic testing - European Journal of Human Genetics European Journal of Human Genetics - From screening to strategy: Clinical implications of COL4A3/COL4A4 variants found in reproductive genetic testing

📢 Incidental findings of autosomal dominant #AlportSyndrome in reproductive carrier screening offer a unique chance to protect kidney health early 🧬
Discover how a small step can lead to a significant impact ⬇️ #Genetics #KidneyHealth

www.nature.com/articles/s41...

🌍 RaDaR team members presented #AlportSyndrome data at FDA headquarters in Washington DC.

Discussions focused on accelerating clinical trials using surrogate endpoints – a key step toward developing treatments for this rare kidney disease.

Read more: https://ow.ly/lKNe50XJBsj

#Bayer has started a phase 2a trial of an antibody that it hopes could provide a targeted, potentially disease-modifying therapy for #Alportsyndrome, a rare, genetic disease that leads to #chronickidneydisease (CKD).

pharmaphorum.com/news/bayer-t...

Also my favorite poster companion 💜

@asnpublications.bsky.social
@alportuk.bsky.social

#ASN #KidneyWeek #AlportSyndrome

Thanks to NIDDK for funding this work! #AlportSyndrome @alportuk.bsky.social @alportalliance.bsky.social

Unfolding the potential—chemical chaperones in #Alportsyndrome

doi.org/10.1016/j.kint.2025.07.006

Original article: doi.org/10.1016/j.kint.2025.05.016

#KICommentary #NephSky #MedSky #CKD

Jeffrey Miner Among Leading Experts at Alport Syndrome Research & Regulatory Workshop - Division of Nephrology Jeffrey Miner, PhD, FASN, Eduardo and Judith Slatopolsky Professor of Medicine in Nephrology at Washington University, was among the 35 workshop participants of the Alport Syndrome Research & Regulato...

The AlportSyndFndn's #AlportSyndrome Research & Regulatory Workshop brought together 35 experts - including
@jeffminerphd.bsky.social - dedicated to advancing therapeutic development for this rare #genetic kidney disease. #Nephrology See more: nephrology.wustl.edu/jeffrey-mine...

Join Alport Warriors!
A supportive FB group for those living with Alport Syndrome.
www.facebook.com/groups/17746...
Because no one should face this alone.
#AlportWarriors #AlportSyndrome #RareDiseaseCommunity #SupportNetwork #AlportUK

What is RaDaR?
Are you registered?

RaDaR tracks data on 1200+ Alport patients in the UK to boost kidney research.
Join to improve Alport diagnosis & treatments!
Register via your consultant!
More info: www.ukkidney.org/rare-renal/a...

#AlportSyndrome #RaDaR

Alport Syndrome Outcomes Linked to Genotype and Proteinuria in RaDaR Study A RaDaR analysis from ERA 2025 provides insight into predictors of disease progression, outcomes in patients with Alport syndrome.

🎥 New RaDaR data on #AlportSyndrome

✅ 1175 patients
✅Key for understanding disease progression
✅ Informs future trial design

RaDaR's Danny Gale discusses the most detailed AS analysis yet.

🎥Watch the HCP Live News interview: ow.ly/xo7150WbFcY

#RareKidneyDisease

Chemical chaperone 4-phenylbutyrate treatment alleviates the kidney phenotype in a mouse model of Alport syndrome with a pathogenic variant in Col4a3

doi.org/10.1016/j.kint.2025.05.016

#MedSky #NephSky #OpenAccess #ckd #chronickidneydisease #alportsyndrome

🌈 Alport UK celebrates #PrideMonth! 🌈
Everyone with Alport Syndrome deserves to be recognized for who they are, whether LGBTQIA+ or an ally.
Let's build a world where everyone feels seen & supported! 💖
#InclusiveCommunity #KidneyPride #RareAndProud #AlportSyndrome

Thank you to Florence Nightingale for changing the path for a brighter future for nursing and to all our nurses who help create a brighter future for people living with Alport Syndrome.

#florencenightingale #renalnurses #dialysisnurses #transplantnurses #changes #alportsyndrome

PDGF-D Is Dispensable for the Development and Progression of Murine Alport Syndrome Alport syndrome is an inherited kidney disease, which can lead to glomerulosclerosis and fibrosis, as well as end-stage kidney disease in children and adults. Platelet-derived growth factor-D (PDGF-D)...

#LegacyContent: PDGF-D is dispensable for the development and progression of murine #Alportsyndrome. Authors from
@rwth.bsky.social, @radboudumc.bsky.social, and @ki.se.

Free in the #OpenArchive: ajp.amjpathol.org/article/S000...

The real one had something called #AlportSyndrome I think.

📘 New 2024 guideline on Alport syndrome just published in NDT by ERKNet, ERA & ESPN — covering diagnosis, management & treatment.

Read the abstract: academic.oup.com/ndt/advance-...

#AlportSyndrome #Nephrology #RareDisease #Guidelines

Congratulations to Professor Kai at #KumamotoUniversity for bringing together the #AlportSyndrome community in Japan to advance efforts in awareness, early diagnosis and therapeutic development. I was honoured to be a small part of it.

Early Diagnosis Matters

Dan Jagger’s research shows that detecting hearing loss early helps prevent lasting damage. His team is improving diagnostic tools so patients get support sooner.

#HearingHealth #EarlyDiagnosis #AlportSyndrome #AlportUK

@auditorynerves.bsky.social

Big news in hearing research!

Dan Jagger has been awarded a grant for his research into hearing loss in Alport Syndrome. Shaped by real patient experiences, his work aims to improve understanding and prevention.

Stay tuned for updates!

#HearingResearch #AlportSyndrome #AlportUK

Alport Syndrome: A genetic disorder causing progressive kidney disease, hearing loss, and eye abnormalities due to type IV collagen mutations. March is #alportsyndrome awareness month.
alportsyndrome.org @alportuk.bsky.social
You may be rare, but you are not alone!
#rareDisease #rareDiseaseAwareness

✨ Young Warrior Spotlight ✨

We’re proud of one of our young warriors for achieving a B in her EPQ on Alport Syndrome in women! Her teachers praised her inspiring, personal work.

Education is key to raising awareness—let’s celebrate her success! 🎉

#AlportSyndrome

📢 Save the Date!

The 2025 International Workshop on Alport Syndrome is in Beijing, China!

📅 Sept 4 – Patient Workshop
📅 Sept 5-7 – Scientific Workshop

Connect, learn, and advance treatments! More details soon.

🔗 www.alportsyndromealliance.org

#AlportSyndrome #GlobalWorkshop #SaveTheDate

For all those who left X, a copy and paste:

Congratulations, Hassan Saei! It was an honor to be on your PhD defense jury. I can't think of a better reason to go to Paris. Your work on ADTKD and #AlportSyndrome is first-rate! I look forward to seeing you at a conference in the future.

Diagnosis, management and treatment of the Alport syndrome – 2024 guideline on behalf of ERKNet, ERA and ESPN Abstract. Glomerular nephropathy resulting from the genetic defects in COL4A3/4/5 genes including the classical Alport syndrome (AS) is the second commones

#AlportSyndrome

academic.oup.com/ndt/article/...

A rare selfie of me, showing my blonde hair now below shoulder length instead of waist length, after I hacked it off with sewing shears.

I hope I can skip dialysis this time around and go straight to another transplant, but I don't have a living donor (my other two kidney transplants were from living donors). Will talk to my doctor about this next week.

Also, I cut my hair.

#alportsyndrome #kidneytransplant

This is right up my #AlportSyndrome #ThinGBM alley.

Podocytologists of the Bluesky world, unite! @rachellennon.bsky.social @rheaultm.bsky.social Anymore out there (yet)? #podocyte #AlportSyndrome

#SpatialTranscriptomics #GeoMx #ChronicKidneyDisease
#AlportSyndrome
#FocalSegmentalGlomerulosclerosis
#MembranousNephropathy

#Glomeruli vs Tubules

Pathology score
➕corr: Retinoic acid binding
➖corr: Selenocysteine synthesis; SLIT/ROBO

#JCIInsight 2024
insight.jci.org/articles/vie...

We are looking for #AlportSyndrome to enroll in this study to try to provide the first therapy for this disease.