ASF PATIENT SURVEY RESULTS
In January, ASF introduced “Diagnosis Stories,” a new survey project open to all patients age 18+ with a confirmed Alport diagnosis and to parents reporting about their first offspring diagnosed with Alport syndrome. Questions were created with guidance from our Medical Advisory Committee. The goal of the project is to document self-reported patterns of misdiagnosis and help identify tipping points for accurate diagnosis.In total, the experiences of 240 patient participants were captured between January 21 and February 28, 2021. Thank you to all those who participated.
- 51% of adult patients and 39% of first diagnosed offspring were initially misdiagnosed or incompletely diagnosed.
- 47% of adults received an accurate Alport diagnosis 5+ years after renal symptoms were first identified.
- 68% of adult females experienced disease symptoms despite being told by a physician they were “just a carrier” of Alport syndrome.
- 11% of adult patients were in renal failure when they were diagnosed.
- 97% of adult patients who had genetic testing received results that provided an accurate Alport diagnosis. 64% of adult patients who underwent a biopsy received results that provided an accurate Alport diagnosis.
Please note, ASF will keep the “Diagnosis Stories” survey open so updated insights can be shared later this year. If you have not yet participated in the “Diagnosis Stories” project, you can share your experience here.
THANK YOU to the generous sponsors of the “Diagnosis Stories” project: Chinook Therapeutics and Travere Therapeutics.
ASF AWARDS RESEARCH GRANT IN GENE THERAPY
Through the generosity of patients, families, and friends that donate to Alport Syndrome Foundation, we are honored to announce a 2021 funding award of $132,000 to Washington University’s Division of Nephrology in the Department of Medicine. These funds were awarded to Dr. Jeffrey Miner’s laboratory to perform proof of concept gene therapy studies in Alport mice. The studies will determine the ages and stages of kidney disease at which promising gene therapy approaches would be effective in Alport patients.
Click here to read the full ASF Funding Award Press Release.
Research funding would not be possible without the generosity of donors who support ASF and its Research Program. Gifts of all sizes make a difference. We recently launched a page on our website to publicly acknowledge all donations made in honor or memory of a loved one. This page will be periodically updated and soon reflect gifts in 2021 as well. Thank you to all those who have chosen to donate to ASF and support critical research.
VOICE OF YOUNG ALPORT PATIENTS – INT’L PLATFORM
APRIL 1, 2021 – 9:00AM EASTERN TIME
In a historic first, Alport Syndrome Foundation and the International Pediatric Nephrology Association (IPNA) will co-present Alport Syndrome: Patient-Physician Perspectives, a 60-minute free webinar featuring young Alport patients from three countries. Event moderators include physicians Dr. Michelle Rheault and Dr. John Mahan from the U.S. and Dr. Jie Ding from China. This event is open to patients, families, and medical professionals. A closed captioned recording is available to view on our YouTube channel.
PATIENT SPOTLIGHT: MEET SAM CLARKE
Sam Clarke is a 33-year-old award-winning filmmaker from Reading, England. He is a big fan of “action sports” including cycling, skydiving, surfing, indoor bouldering, and gymnastics. Sam, who received a degree in T.V. and Video Production in 2013, was diagnosed with Alport syndrome when he was eighteen months old. Throughout his twenties, he struggled psychologically with the concept of his kidneys failing due to the uncertainty of when exactly they would fail. Most of the choices Sam made in his youth were orchestrated by the concept of “fighting failure.”
In 2019, Sam decided to quit his job and start training to cycle 6,000 miles around Europe to raise money for Alport UK, to raise awareness of Alport syndrome, and to produce a documentary about his story. Sam traveled an impressive 4,000 miles before the pandemic hit.
In 2020, Sam completed a UK solo bike tour when the first pandemic lockdown eased and managed to cycle 1,141 miles in 7 weeks, wild-camping along the way, from Land’s End to John O’Groats. He also managed to squeeze in time to assist with editing video content from the ASF Virtual Family Meeting.
Sam’s video series, “Fighting Failure,” can be viewed on his “Adventure Man Sam” YouTube channel.
ASF WELCOMES DR. ANJAY RASTOGI
Alport Syndrome Foundation is pleased to welcome Anjay Rastogi, M.D., Ph.D., to the Medical Advisory Committee.
Dr. Rastogi is a Professor and Clinical Chief of Nephrology at the David Geffen School of Medicine at UCLA, Los Angeles. He is board certified in Nephrology and has a doctoral degree (Ph.D.) in Pharmacology. Dr. Rastogi is heavily involved in research and serves as the Director of Nephrology Clinical Research Program and Medical Director of the ESRD Dialysis Program.
Dr. Rastogi also founded the CORE Kidney Program at UCLA.
You can read Dr. Rastogi’s full biography on the ASF Medical Advisory Committee page.
DON’T MISS OUR MARCH WEBINARS!
We are hosting two educational webinars this month. Both are free and open to all members of the Alport community.
These virtual events require pre-registration and will feature live closed-captioning and audience Q&A.
The AFFINITY Study (NEW Clinical Trial)
Friday, March 19, 2021
9am Pacific / 11am Central / Noon Eastern
A recording of this webinar can be viewed here.
Alport Syndrome and the Eyes
Wednesday, March 24, 2021
11am Pacific / 1pm Central / 2pm Eastern
A recording of the webinar can be viewed here.
Please note: A recording of February 2021’s 60-minute Pediatric Care Q&A with Dr. Warady can be viewed in full on our YouTube Channel
ACKNOWLEDGING AN ALPORT PIONEER
Dr. Clifford Kashtan, one of the early and pioneering members of the ASF Medical Advisory Committee, retired from clinical service at the end of 2020. Sharon Lagas, ASF Co-Founder and past President, reflects on Dr. Clifford Kashtan’s immeasurable impact on the Alport community in a personal letter that can be read here. Following is an excerpt:
“…He was supportive of our efforts from the beginning and provided guidance and advice to us as we started to grow Alport Syndrome Foundation. He provided recommendations for patients, he invited us to important professional and research meetings, introduced us to the international community of Alport syndrome researchers, worked with us on the first family meetings, attended many patient meetings and became a trusted advocate and friend. I can say the world is a better place for Alport syndrome families because of Dr. Kashtan.”
MARCH PODCAST FEATURES FOUR ALPORT PATIENTS
In honor of Alport Awareness Month, Tammy Flynn, host of The On-Air Advocate podcast, held a series of discussions with four patients to increase understanding of Alport syndrome and to discuss lived experiences from their wide-ranging disease journeys. Interviews feature ASF’s Director of Communications and Patient Engagement, Kevin Schnurr, ASF’s Emerging Leadership Council Co-Chair, Cassie Smith, teenage patient advocate, Grant Bonebrake, and patient volunteer and living donor kidney transplant recipient, Maddie Martin.
Click here to listen to the Alport-centric On-Air Advocate episodes.
NEW DRUG APPLICATION SUBMITTED TO FDA
As first reported on ASF social media channels,
on March 1st, Reata Pharmaceuticals announced its submission of a New Drug Application (“NDA”) for bardoxolone methyl for the treatment of chronic kidney disease caused by Alport syndrome to the U.S. Food and Drug Administration.
Click here to read the full press release.
