Cure RTD Foundation

Riboflavin Transporter Deficiency (RTD) is a rare, life-shortening, neurodegenerative genetic disorder with onset occurring most often in childhood.  RTD was formerly known as Brown-Vialetto-Van Laere (BVVL) or Fazio-Londe (FL) syndrome.  First reported as an “infantile” form of ALS,  RTD affects motor and sensory nerve cells (neurons), taking away a person’s ability to hear, see, move, walk, eat and breathe.  RTD knows no ethnic boundaries and cases of RTD have been reported in every corner of the globe.  Despite the physically devastating effects of the disease, the mental capabilities of people with RTD remain completely intact. Daily treatment with riboflavin (vitamin B2) has recently shown great promise in slowing down the progression of RTD. More research is desperately needed to advance treatment, which will eventually lead to a cure for this devastating disease.

We are a global volunteer organization dedicated to saving lives through education, advances in treatment, and the search for a cure for Riboflavin Transporter Deficiency (RTD).  The Cure RTD Foundation is a public, 501(c)(3), non-profit, tax-exempt organization based in the United States.  The foundation was launched in 2016 by families affected by RTD that made the unanimous decision to work together towards a common goal of a cure for RTD.

A Record of Global Achievement

Since 2016, Cure RTD has transformed the outlook for people with Riboflavin Transporter Deficiency Type 2 (RTD Type 2):

• Lives Saved: Nearly 500 individuals have been diagnosed and treated—many only because of Cure RTD’s awareness campaigns and global research partnerships.

• Groundbreaking Science: Our international teams have published 24 peer-reviewed papers, mentored seven PhD graduates, and delivered discoveries that guide today’s treatments all thanks to Cure RTD funded projects.

• Active Innovation: We currently lead eight research studies investigating the disease’s root causes and testing new therapies.

Gene-Therapy Breakthroughs

After five years of focused work, Cure RTD achieved the first successful gene-therapy study in RTD mice:

• 100% survival and sustained health in treated mice.

• Mice receiving only riboflavin or no treatment rarely survived.

We are now launching a second gene-therapy trial using the newest, safest viral vectors. This two-year study is the final step before first-in-human clinical trials.

The Work Ahead

Genetic data indicate thousands remain undiagnosed. Without increased funding, Cure RTD cannot:

1. Complete the gene-therapy program that could deliver a definitive cure.

2. Advance new treatments to improve life for those currently living with RTD.

3. Expand global diagnosis and care, ensuring every person with RTD is identified and treated.

Your Support Makes the Difference

Every discovery, every life saved, every breakthrough has been possible because of donors like you. With your partnership, we can finish what we started: a world where RTD is found early, treated effectively, and ultimately cured.