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May 2021 Newsletter


Saturday, August 7th
9:00am – 12:00pm Pacific / 11:00am – 2:00pm Central / 12:00pm – 3:00pm Eastern


Sunday, August 8th
10:00am – 1:00pm Pacific / 12:00pm – 3:00pm Central / 1:00pm – 4:00pm Eastern

Alport Connect 2021 is open to all those 18+ interested in learning more about Alport syndrome. Join patients, family members, and medical experts for a weekend of live, virtual, interactive panels covering ALL NEW topics including understanding genetic testing results, tips and information for those living with hearing loss, new research efforts, and much more. Interested in just one, several, or all sessions — you need a ticket!

You’ll need to join us live to learn and participate as some sessions will not be recorded.

First 100 U.S registrants receive a Welcome Packet by mail (estimated shipping mid-July 2021).

U.S. registrants with children under age 12 will receive a special age-appropriate ASF gift to share with their young one(s)!

Get Your Free Ticket Today




The Emerging Leadership Council’s (ELC) purpose is to ensure the voice of patients within the 25-35 age range is well represented in ASF’s decision-making, and to develop the next set of leaders to sustain ASF into the future.

Click here to read about the new members of the ELC – Joseph, Jess, Kelly, and Max – and the wide range of personal and professional experiences they bring to the Council.

Questions can be directed by email to Adam Jardine and Cassie Smith, Council co-chairs. Those in the 25-35 age range are encouraged to reach out to share stories, learn about relevant ASF resources, and get further engaged with the Alport community.



A new article, “Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria,” was recently published in the European Journal of Human Genetics.

Co-authored by members of the ASF Medical Advisory Committee and former ASF Research Funding Program recipients, the paper is a technical “state-of-the-art” guideline for geneticists on how to classify and potentially interpret the pathogenicity of thousands of different Alport syndrome genetic variants.

ASF’s volunteer Research Program Chair and Board Member, André Weinstock, PhD, MSAS, provides a layman’s summary of the article at this link.



With Father’s Day a few weeks away, ASF contacted dads in Alport families to comment on their experiences and share advice for fellow father figures.


“As a Dad with X-linked Alport Syndrome I’ve found it to be hugely helpful in helping my two boys appreciate all the differences we humans have and cementing inclusiveness at a young age. Dad doesn’t hear like most. Dad doesn’t see like most. Dad has two wicked scars from his transplants. It’s a long list! Even though they are only 10 and 6, they have a greater appreciation for anyone with disabilities and know to treat everyone as equals.”

– Ryan





“Initially I was hesitant about having a child due to the chance of her getting Alport syndrome. Looking back on my own journey, Alport syndrome didn’t stop me from living a fulfilling life. I now know that even if my daughter is affected by Alport syndrome, it won’t stop her from living her best life.”







“I would tell fellow dads not to dwell on the uncontrollables. The guilt for some may be strong when it comes to knowing we passed on this genetic disease but I’m always reassured by the advancements of modern medicine. What my girls have today for treatment and care, compared to when I was young, is night and day, and medicine for the future is looking bright!”




ASF is collaborating with a nationally recognized pediatric nephrologist to ensure the experiences of Alport youth are documented as a means to improve future guidance and care. This Summer, ASF plans on sharing the captured insights about mental health, medication tolerance, hearing aid use, and more.

To collect the best possible data, ASF is seeking Alport patients ages 13-22 to share their Alport journey via a series of surveys and brief one-on-one Zoom chats with ASF Staff. Participants will receive customized ASF apparel for their time and efforts and have the opportunity to virtually meet others their age living with Alport syndrome.

Interested? Email [email protected]. Note: Those under the age of 18 require parental consent by email to participate in the Pediatric Insight Campaign.



ASF’s Treatment webpage has been updated to include downloadable Spanish language versions of two important diagnosis and treatment articles written by Medical Advisory Committee member Dr. Clifford Kashtan.

1) Clinical Practice Recommendations for the Treatment of Alport Syndrome in Children, Adolescents and Young Adults (Recomendaciones de práctica clínica para el tratamiento del síndrome de Alport en niños, adolescentes y adultos jóvenes)

2) Promoting Early Diagnosis and Treatment of Alport Syndrome (Promoción del diagnóstico y el tratamiento precoces del síndrome de Alport)

THANK YOU to Natera, ASF’s 2021 Communications and Connection Sponsor, for making this translation project possible.

Please note our website also contains a language translation tool in the top, right-hand corner to automatically convert other educational text.



ASF will host a 60-minute, closed-captioned, educational webinar about the HERA Clinical Trial on Wednesday, June 30th at 9:00am Pacific / 11:00am Central / 12:00pm Eastern. The event will include time for audience Q&A.


UPDATE: You can watch a closed-captioned recording of the June 30, 2021 webinar at this link.

Additionally, a new HERA clinical trial site is now actively recruiting Alport patients:

University of Utah Department of Nephrology
30 N. 1900 E, Room 4R312, Salt Lake City, UT 84132
Dr. Martin Gregory and Dr. Laith Al-Rabadi – Principal Investigators
Clinical Site Coordinator Contact: Iran Lavasani
Email: [email protected]

Other U.S. HERA study sites include Los Angeles (CA), Minneapolis (MN), New York (NY), and Cleveland (OH). More information on HERA and trial locations can be seen on the ASF Website.