Cure RTD

Three year old Rosa from the UK is living with RTD Type 3, and her family is showing what love in action looks like.

A huge congratulations to Rosa’s dad, Daniel Norman, and her aunt, Daisy Stratford, who completed the Three National Peaks yesterday, climbing the highest mountains in Scotland, England, and Wales in just 24 hours.

They raised thousands for RTD research and more than doubled their fundraising goal.

What an incredible accomplishment, and what a powerful way to support Rosa, the RTD community, and the research that brings hope for the future.

Did you know this about riboflavin (vitamin B2)?

Someone with Riboflavin Transporter Deficiency (RTD) takes as much riboflavin in ONE day as a healthy person needs for 5+ years.

Now flip that.

A healthy person only needs about 1 mg of riboflavin per day. Miss that for a few weeks, and riboflavin deficiency starts. Missing it for a few months will leads to devastating health issues and eventually death.

Tiny amount. Huge impact.

Why riboflavin matters 🧬

Vitamin B2 becomes FMN and FAD, small cofactors that power hundreds of reactions.

They drive:
• ⚡ Energy production
• 🔥 Fat metabolism
• 🧱 Protein processing
• 🔄 Activation of other vitamins (B6, folate, niacin)
• 🛡️ Antioxidant defense
• 🧠 Brain and nerve chemistry

Without it, key systems slow down or stall.

Bottom line 📌
A vitamin measured in milligrams helps run systems your body uses every second. That is how vital riboflavin really is.

Riboflavin is not a cure for someone with RTD, but it is essential. High doses can help support cells, help stabilize some symptoms, and slow progression.

Some climbs mean more than reaching the summit. Three year old Rosa is living with RTD Type 3, something her family navigates every day.

In the UK in May, her dad, Daniel Norman, and her aunt, Daisy Stratford, are taking on the Three National Peaks in 24 hours for her. Every step is for Rosa and for the hope of something better.

This is more than a challenge. It’s a push for answers, better treatments, and a cure for RTD.

Thank you to Dan and Daisy for supporting RTD research and continuing to bring hope to families living with RTD.

Happy Easter from Cure RTD! Wishing you a day filled with blue skies and delicious chocolate! May this season of renewal bring you an abundance of peace and overwhelming love. 🐰🌷

An inspiring day for the RTD community in Italy 🇮🇹

The University of Salerno hosted an extraordinary event on Monday, bringing together RTD researchers, physicians, patients, and foundation leaders for a powerful exchange of science, collaboration, and hope.

The program featured new research insights on Riboflavin Transporter Deficiency, including presentations from Dr. Claudia Compagnucci of Bambino Gesù Pediatric Hospital and Cure RTD’s Keith Massey, highlighting ongoing progress toward better understanding and treating RTD.

One of the most impactful moments came from Federico Autunno, a University of Salerno student living with RTD Type 3. His personal story, “How science can save a life,” was a powerful reminder of why this work matters. His experience put a human face on the urgency of advancing research and access to care.

Events like this show what is possible when patients, scientists, clinicians, and advocates come together with a shared mission.

Thank you to the University of Salerno, Cure RTD Italia odv (Marina Borghesi), and all participants who made this event meaningful and impactful.

Together, we move closer to a future where RTD is treatable for every patient.

New Important Research Update on SLC52A1

A new study in the Journal of Biological Chemistry has uncovered an important discovery about SLC52A1, the gene linked to Riboflavin Transporter Deficiency Type 1 (RTD1).

For years, scientists believed the SLC52 family of genes (SLC52A1, SLC52A2, and SLC52A3) had one job: transporting riboflavin (vitamin B2) through the body. This new research shows one of them does more.

A Transporter with a Double Role

Researchers discovered that SLC52A1 also transports urate, a molecule produced when the body breaks down purines.
Urate normally circulates in the blood and is removed through the kidneys and intestines. High levels can lead to conditions such as gout.

When scientists tested the other riboflavin transporters, SLC52A2 and SLC52A3, neither transported urate. This makes SLC52A1 the first riboflavin transporter ever shown to move a second molecule while still transporting riboflavin.

The study also explains the mystery on why SLC52A1 is highly concentrated in intestinal cells but barely detected in most other tissues.

• Strategic location: SLC52A1 sits on the blood facing side of intestinal cells. From here it can move riboflavin from intestinal cells into the bloodstream and also allow urate from the blood to enter the cells, where it can later be removed through the gut. On the opposite side of these cells, SLC52A3 pulls riboflavin from the gut into the cell, working together with SLC52A1 to move vitamin B2 from food into the blood.

• Bidirectional transporter: SLC52A1 works through facilitated diffusion, meaning molecules move based on concentration. This allows riboflavin to move into the blood while urate moves from the blood into intestinal cells so it can be excreted.

Why This Matters for the RTD Community

This discovery adds an important new piece to the puzzle for understanding RTD and developing future treatments.

First, it shows riboflavin transporters are more complex than previously thought, with SLC52A1 performing more than one biological role. Cure RTD is currently supporting research to determine whether SLC52A2 and SLC52A3 may also have additional functions, which could significantly influence future treatment strategies.

Second, the study highlights a key challenge in RTD research. Unlike humans, most laboratory animals break down urate using an enzyme called uricase, so they never evolved the SLC52A1 transporter. This is one reason Cure RTD focuses heavily on cell lines derived from RTD patients.

This is exactly why Cure RTD invests in research. Breakthroughs like this expand our understanding of RTD biology and bring us one step closer to better treatments and a cure for RTD.

Reference:
Yamamoto et al., 2026. SLC52A1 Is a Neofunctionalized Primate Urate Transporter Enabling Intestinal Urate Secretion. Journal of Biological Chemistry. Link to paper: https://www.sciencedirect.com/science/article/pii/S0021925826001808

Today we recognize Rare Disease Day with the global rare disease community.

More than 300 million people worldwide live with a rare disease. Over 7,000 rare diseases have been identified, and most still have no approved treatment. Behind each number is a family learning to navigate a diagnosis they may have never heard before.

Since last Rare Disease Day, the Cure RTD Patient Registry has grown by 48 individuals, bringing us to more than 500 families. Forty eight new journeys. Forty eight reminders that RTD is rare, but it is present in homes around the world. Greater awareness and focused research are helping more patients be identified and connected to support.

Organizations in more than 80 countries are marking this day. Patients, caregivers, clinicians, and researchers stand together to make rare diseases visible and to push for better answers.

Every few days, a child is born with RTD. This is why the day matters. It is about families who show up daily with strength and determination.

To our research team, thank you for the steady, detailed work that drives real progress. And to everyone who supports Cure RTD through donations and advocacy, your partnership makes this work possible.

Rare is not alone. Rare is powerful when united.

Today we honor every person living with RTD and recommit to awareness, research, and the pursuit of a cure.

Rare Disease Day is just FOUR days away! Rare Disease Day is a globally coordinated movement dedicated to rare diseases, striving for equity in social opportunities, healthcare, and access to diagnosis and therapies for the 300 million people worldwide who are living with a rare disease. This Saturday, February 28, we urge you to wear stripes to help raise awareness and support the rare disease community - and tag so we can celebrate with you!

We are excited to welcome Dylan Vail to the board of directors of the Cure RTD Foundation.

Dylan lives in Tucson, Arizona with his wife Rayme and their two sons, Carson and Parker. Their journey with RTD began in June 2022 when Carson was diagnosed with RTD Type 2 at 2.5 years old. Parker was tested soon after and was also diagnosed with RTD Type 2 at just 10 months old. Since then, their family has made it a mission to support Cure RTD’s work toward a cure.

Dylan graduated from the United States Air Force Academy in 2017 with a Bachelor of Science in Business Management and currently serves as an A 10C pilot in the United States Air Force. Raising two sons with RTD has deeply shaped his perspective and strengthened his commitment to improving the future for families affected by this disease. Dylan and Rayme continue to focus on advocacy, awareness, and fundraising in support of Cure RTD.

We are grateful for Dylan’s dedication and leadership and are proud to have him join our growing team of volunteers. Learn more about Dylan and the Cure RTD team at the link below.

https://curertd.org/about-us/ourteam/