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June 2022 Newsletter

Ready to Advance Alport Research – Patients Needed!

In June 2020, ASF organized a series of virtual workshops with some of the world’s leading experts in Alport syndrome research to discuss one question: Can Alport syndrome be cured?

The consensus was a resounding, YES. Researchers agreed that technological advances are making better treatments and potential cures possible. However, the group also cautioned that several important scientific pieces were missing, including a well-designed natural history study.

Natural history studies in rare disease follow a group of patients over time, collect specific health information to document how a disease progresses, and provide scientific evidence to support potential new therapies or a cure. Such a study was initiated many years ago by a pharmaceutical company, but the data was never published or made available to support research. ASF went to work strategizing options to drive our own study with best outcomes for patients as a priority.

Two years later, in June 2022, ASF has launched a partnership with NEPTUNE, the Nephrotic Syndrome Study Network at the University of Michigan, for a natural history study in Alport syndrome. As the catalyst for dozens of clinical trials and new therapies, NEPTUNE has more than a decade of experience studying rare kidney diseases, offers 25+ participating sites across the U.S., and has tremendous support from the National Institutes of Health, making it an extraordinary partner for this new effort. This program ensures researchers will have access to this critical de-identified patient data.

About the Alport syndrome natural history study funded by Alport Syndrome Foundation:

  • Will accept and follow up to 63 Alport patients of all ages (pediatric and adult).
  • Study site locations are available across the U.S. and one site in Canada.
  • Travel stipends and reimbursements are part of the study plan.
  • Patients can remain on their current standard of treatment while participating.
  • Patients currently participating in clinical trials are eligible.
  • The lead researchers are Dr. Michelle Rheault and Dr. Alessia Fornoni, noted nephrologists and researchers who serve on ASF’s Medical Advisory Committee.

What to expect:

Collection of patient data including blood and urine, blood pressure readings, hearing measurements, family history, and more. See the patient flyer below for additional details.

How to learn more and/or participate?

To learn more about NEPTUNE and find a study site near you, visit the NEPTUNE website, or contact Chrysta Lienczewski ([email protected]) or ASF ([email protected]).

Alport Connect 2022 – Don’t Miss Out!

Join us virtually August 6 & 7 for ASF’s most comprehensive annual learning and connection event for patients and families. Choose which sessions are most useful to you/your loved ones – but you must be registered to attend (tickets are FREE)!

Topics include but are not limited to:

  • Renal diet for every type of patient.
  • Hot topics in treatment (with expert nephrologists).
  • Young patients sharing what they wish their parents and doctors knew about living with Alport syndrome.
  • Separate interactive sessions for females, parents of young children, and senior citizens living with Alport syndrome.
  • Speak directly with Alport researchers to learn about their latest projects, ask your questions, and find out how to get involved.
  • Recent patient success stories.

Questions about the event? Please email ASF Staff: [email protected].

Limited Welcome Packets with wearable ASF swag are still available for U.S. registrants!

New Clinical Trial Recruiting Alport Patients

Drug development company River 3 Renal has initiated a phase 2 clinical trial to evaluate the efficacy and safety of R3R01, a molecule intended to reduce the accumulation of toxic lipids in podocytes and thereby help improve kidney function. Study sites are being established in the U.S., U.K., and additional locations in Europe.

The goal of the study is to evaluate the effect of R3R01 on proteinuria in patients with Alport syndrome and focal segmental glomerular sclerosis (FSGS).

  • The trial is open to patients 12 years and older, including males and females with X-Linked Alport syndrome, and males and females with Autosomal Recessive Alport syndrome.
  • Patients will receive the study drug as oral tablets twice a day for approximately 3 months. All participating patients will receive the study drug (no placebo).
  • Patients will remain on their current dose of ACE/ARB therapy during the trial, unless they had previously discontinued use for intolerability or lack of efficacy.

Interested patients in the U.S. can contact Kathie Gabriel at [email protected] and those in Europe or the U.K. can contact Minh Duong at [email protected].

Cornhole for Kidneys 2022 – Alport Family Gets Creative

“I felt like my whole world was caving in on me.” That’s how Amy Rhodes describes receiving news last year that her young son, Ben, was also diagnosed with Alport syndrome. “I had so many unanswered questions and an overwhelming amount of anxiety.” She wondered: What did this diagnosis mean? Would my son experience kidney failure like his grandfather did? Would there ever be a cure?  

After emotional conversations with her husband, Amy decided she wanted to do whatever she could to support research as a way to help her son and other patients. She chose to organize a fundraising and friendraising event for ASF using a family-friendly game.

Cornhole for Kidneys – Saturday, July 16th – Appleton, Wisconsin!

“In just a few short months we have 18 teams registered and have raised just over $10,000. More importantly, we shared our story with so many people. Everyone has been so gracious with their donations, love, and support. It gives me so much hope that as we continue to raise awareness and funds, brighter days are ahead for Alport syndrome patients. I have faith that together we will be able to conquer Alport syndrome,” says Amy, who serves on ASF’s Emerging Leadership Council.

Want to learn more about this event or discuss how to plan your own? Email ASF Staff.

Direct Connect: Building a Support Network

Who can you lean on for emotional support? In a medical crisis? For a helping hand? As a person living with a rare genetic condition, having a trusted network in place is important, regardless of your age or level of disease progression.

Members of ASF’s Emerging Leadership Council and Staff are facilitating an hour-long discussion, “Building a Support Network at All Stages of Disease,” next month and will share their own challenges and successes.

Join Us: Tuesday, July 12, 2022

60-minute Direct Connect conversation

4:00pm Pacific / 5:00 Mountain / 6:00 PM Central/ 7:00pm Eastern

Note: To encourage open conversation, Direct Connect events are live and not recorded.

The event is free but requires pre-registration at the link below.

Newly Expanded Study Focused on Kidney Transplant

Closed Captioning is available by clicking the “CC” button.

ASF recently invited Kristi Schneider, MSN, RN, ANP, the Director of Clinical Development at Talaris Therapeutics, to share information with the Alport syndrome community regarding the FREEDOM-1 Study and the recently launched FREEDOM-2 Study.

Click the video image above to watch the video explaining this groundbreaking study in kidney transplantation.

FREEDOM-1 is a clinical research study enrolling adults who plan to receive a kidney transplant from a living donor, while FREEDOM-2 is open to those who received a living donor kidney in the past 12 months. Both studies are open to Alport and non-Alport patients and are testing the efficacy of FCR001 therapy to induce durable immune tolerance to the transplanted kidney without the need for chronic immunosuppression medications.

Thank you to our Alport Connect 2022 Sponsors to Date: