BVVL International, now known as RTD International, was launched in 2008 as an aid to anyone interested in uncovering the mystery of Brown-Vialetto-Van Laere syndrome (BVVL). BVVL was recently renamed to RTD (Riboflavin Transporter Deficiency), after the causal gene and function was discovered.
Welcome
RTD International was created in June 2008, and is the first web-based resource tool for physicians, researchers, and families interested in learning more about Riboflavin Transporter Deficiency. RTD is a rare, neurodegenerative motor neuron disorder, mainly affecting children. The disease causes a host of cranial nerve deficits including loss of the ability to speak, hear, swallow, and even breathe.
Research Update
Present: Research with Kevin Eggan at Harvard University is ongoing. If you are interested in learning the most up to date aspects of this research, please feel free to contact us.
March 2016: The Thisbe and Noah Scott Foundation, Inc. granted to Kevin Eggan, Ph.D., Associate Professor of Stem Cell and Regenerative Biology at Harvard University for a fourth year. Their groundbreaking discoveries have been documented in a recently published article in Human Molecular Genetics. See the RTD Research Articles page for more information.
March 4th, 2010: The first article outlining a BVVL gene was published. Since that time, other genes have been discovered that elucidate this disease as a riboflavin transporter gene mutation. See the RTD Research Articles page for more information. November 26th, 2010: An article outlining a potential therapy for BVVL was published. Researchers continue to study intravenous B2 (riboflavin) therapy, which is effective for some patients. See the RTD Research Articles page for more information.
