Changing lives through raising awareness,
advancing treatment, and finding
a cure for Riboflavin Transporter Deficiency
Learn about RTD
The freedom to hear, to see, to walk, to talk, to eat, to breathe. These freedoms can be taken away from those with RTD.
Together we can change that.
Riboflavin Transporter Deficiency	0box1	2019-09-26T15:27:14+00:00
FOR FAMILIES & PATIENTS
Learn about RTD, find
resources and get involved >
Information for diagnosing
and managing RTD >
Information & opportunities
to advance research >
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.
Cure RTD Awards Research Grant to Dr. Steven Gray at UT Southwestern, Texas, USA for Gene Therapy Treatment for RTD
Cure RTD Supports Development of First Mouse Model of RTD Type 2
Cure RTD Awards Research Grant to Dr. Manoj Menezes, at the Children's Hospital at Westmead (CHW) in Sydney, Australia
Cure RTD Awards Research Grant to Maria Barile, PhD, at University of Bari Aldo Moro in Italy
Cure RTD Awards Research Grant for Development of Clinical Outcome Measures, Australia
Cure RTD Awards Research Grant to Claudia Compagnucci, PhD, at the Bambino Gesù Children's Research Hospital, Italy