The Australian Cystinosis Foundation

23/10/2026

👏 fantastic news

23/10/2026

We invite families, caregivers, and interested parties to join us for our Consumer and Patient Advocate Session that is part of our 14th Biennial Meeting, in Melbourne. A panel will share their perspectives on navigating rare diseases, accessing innovative therapies, participating in research, and shaping the future of healthcare. Attendees will gain valuable insights into what matters most to patients and families, helping bridge the gap between scientific discovery and real-world impact. If you are interested in joining us for this session, please register; places are limited.

23/10/2026

Research Update📢

23/10/2026

Investigator-initiated study led by Dr. Larry Greenbaum of Emory University to evaluate once-daily oral powder TTI-0102, designed to improve adherenceSan Diego, California--(Newsfile Corp. - October 22, 2026) - Thiogenesis Therapeutics, Corp. (TSXV: TTI) (OTCQB: TTIPF) ("Thiogenesis" or the "Company...

23/10/2026

Your Experience Can Make a Difference ✨

“Living with Cystinosis as an Adult Community Insights Study," sponsored by Next Generation Cystinosis, will aim to improve the understanding of the lived experience and disease burden of adults living with cystinosis by characterizing relevant physical, emotional, and psychosocial outcomes.

If you are 18+, living with cystinosis and interested in helping the scientific community understand the REAL cystinosis experience, click the link below to learn more:
https://tinyurl.com/NGCResearch

⏱️ Survey/Interview length: 60-90 min
💵 $200 honoraria provided at completion
📄 Must provide disease documentation

19/10/2026

Are you or someone you know an adult living with cystinosis?

Next Generation of Cystinosis (NGC) has partnered with Engage Health to launch the Living with Cystinosis as an Adult: Community Insights Study.

Currently seeking U.S. participants at this time. This study aims to better understand the lived experiences, daily physical and emotional impacts, and unmet needs of adult patients to ensure community priorities are well represented.

Who Can Participate?
Adults aged 18 years or older diagnosed with cystinosis.

Able to read, write, and communicate in English.

Willing to complete a 20–30 minute web-based survey and a 60–90 minute phone interview.

Able to grant informed consent and provide documentation of disease (or consent to support organization attestation).

Compensation & Details:
Eligible participants will receive a $200 honorarium check following completion.

Flexible interview scheduling is available, including times outside standard business hours.

👉 How to Join:
Click the link to complete your RSVP and select your available times: https://tinyurl.com/NGCResearch

If you have questions or need assistance registering, call Engage Health at 651-994-0510.

Please feel free to share this post with others in the cystinosis community!



[ID: the graphic uses the colors black and green to frame a white background. The following information is written on top of the white:
Living with Cystinosis as an Adult: Community Insights Study
Sponsored by Next Generation of Cystinosis
Improving the understanding of the lived experience and disease burden of adults living with cystinosis by characterizing relevant physical, emotional, and psychosocial outcomes.
To be eligible for this study you must:
Be 18 years or older diagnosed with cystinosis
Be able to read, write, and communicate in English
Grant informed consent
Complete a RSVP/survey and interview (approximately 60-90 minutes)
Provide documentation of disease
If you would like to participate in the research interviews please:
Scan the QR code or enter the link in your browser to RSVP with dates and times that you are available.
A $200 honoraria will be provided to eligible participants following study completion.]

15/10/2026

Interesting read - The study suggests cysteamine may help compensate for sulfate lost through the kidneys in children with cystinosis, potentially providing an additional metabolic benefit beyond its established role in reducing cystine accumulation, more details found at the 🔗 ⬇️

Renal tubular disease causes loss of electrolytes and other molecules. One of these electrolytes is inorganic sulfate, which is reabsorbed by dedicated transporters, including NaS1, encoded by the SLC13A1 gene. Still, inorganic sulfate is rarely ...

13/10/2026

https://www.chop.edu/centers-programs/division-nephrology/managing-cystinosis-and-living-joy-sofies-story

A life-changing rare disease diagnosis and complex treatment bring Sofie and her family to CHOP for multidisciplinary care. As a baby, Sofie was diagnosed with a rare condition called cystinosis. “When I think of Sofie, the first thing I think of is joy,” said Erin. Erin is the mother of a vibra...

08/09/2026

Dr William A. Gahl: A Pioneer in Cystinosis Research

An insightful interview with Dr William A. Gahl by the European Medical Journal, whose decades of research have helped shape our understanding of cystinosis, from uncovering the underlying defect in lysosomal cystine transport to contributing to the research that led to cysteamine therapy.

Dr Gahl reflects on how our understanding of cystinosis has evolved, the challenges that remain for people living with this lifelong multisystem disease, and the future of treatment, including gene therapy and molecular newborn screening.

A fascinating look at the history of cystinosis research and the possibilities that lie ahead for the cystinosis community.

We are incredibly thankful for researchers and clinicians like Dr Gahl, whose dedication, knowledge and decades of commitment to cystinosis have made such an important difference to our community. We are so grateful for the work he has done and continues to do to help change the future for people living with cystinosis.

Read the full interview here ⬇️

At the Massachusetts Institute of Technology (MIT), Cambridge, USA, I was fascinated by the fact that the biochemical pathways we studied...

21/08/2026

We are deeply grateful to the family of the first child transplant patient for their courage in paving a path toward a cure for our entire cystinosis community. Their strength, and especially their daughter’s strength, has opened a door to possibilities we’ve dreamed about for decades.

With her parents reporting that early results indicate her cystine levels have decreased by nearly a factor of 10, we are overwhelmed by the hope this brings to every family affected by cystinosis. Though the trial has only just begun, we feel are filled with optimism for the future by this encouraging progress.

This milestone is more than a data point — it’s a powerful reminder of how courage, science, and community can come together to change lives. We are honored to walk beside them.

👉Read the family's full statement: https://www.cystinosisresearch.org/a-historic-clinical-trial-update-from-the-family-of-the-first-child-transplant-patient/