Currently, there is no proven treatment available for BCD. However, there is hope. In a BCD review paper published in 2019, the authors discussed ongoing R&D efforts of various research groups in finding a treatment for BCD. We will focus on two approaches here.
Gene Therapy Approach
Right now, there are over 50 clinical trials that utilize gene therapy for treating various ocular diseases. Learn more about gene therapy and genetic retina diseases here.
Among the treatment research and developments for BCD, Reflection Biotechnologies’ gene therapy is the most advanced and promising one.
BCD Gene Therapy R&D driven by BCD patients.
ReflectionBio – By Patients, For Patients ®
Reflection Biotechnologies Limited (ReflectionBio®) is a biotech company founded and driven by a BCD patient, Richard Yang. BCD affects two patients in Richard’s family and put a big burden on the entire family. ReflectionBio® created and applies the BY PATIENTS, FOR PATIENTS TM approach for rare disease patients to combine efforts and play a proactive role in driving R&D to help ourselves and others. In the process of going blind, Richard initiated BCD gene therapy preclinical study, worked with research partners, filed a patent application, and obtained Orphan Drug Designation from the U.S. FDA. Here is their announcement In 2018.
Now, ReflectionBio® is working on advancing BCD gene therapy into human clinical trials. Richard sees this as a mission and is determined to drive BCD gene therapy closer to human clinical trials as much as he can, physically and financially, in the process of going blind and by using his personal savings. However, this requires millions of dollars that may only be possible via external investors, big biotech or pharma companies. Without raising awareness of BCD, for a rare disease like BCD, it may take years or decades to wait for an investment like this.
Lipid Lowering Approach
The recent investigation of Hata et al supports the possible therapeutic effect in BCD patients of intracellular free cholesterol reduction. This type of studies might provide the basis for future medical treatments of BCD. Moreover, further characterization of CYP4V2 catalytic activity and better understanding of the role of this enzyme in BCD pathogenesis may also set the basis to develop novel therapies of this disease.
Source: García-García, G. P., Martínez-Rubio, M., Moya-Moya, M. A., Pérez-Santonja, J. J., & Escribano, J. (2019). Current perspectives in Bietti crystalline dystrophy. Clinical ophthalmology, 13, 1379–1399.
BY PATIENTS, FOR PATIENTS™, ReflectionBio – By Patients, For Patients ®, and ReflectionBio® are trademarks of Reflection Biotechnologies Limited.