HONG KONG – Hong Kong-based gene therapy company Reflection Biotechnologies Ltd. received orphan drug designation from the U.S. FDA for its gene therapy, RBIO-101, to treat Bietti's crystalline dystrophy (BCD), an inherited eye disease affecting about 100,000 patients worldwide.
"Currently there is no approved treatment for BCD," Richard Yang, founder and CEO at Reflection Bio, told BioWorld. "RBIO-101 would be a breakthrough treatment for BCD.
"To our knowledge, Reflection Bio was the first company in Asia whose gene therapy received orphan drug designation by the U.S. FDA," he added.
Yang, himself a rare disease patient with a disability, founded the company to seek solutions for rare diseases that have no, or only a few, treatment options. Gene therapy is the company's approach to closing the gap.
"In the process of turning blind and searching for a cure, my family and I founded Reflection Bio to actively drive orphan drug research and development as a patient," said Yang.
The "by patients, for patients" approach has pushed Yang to step up his efforts to find new treatments to help himself and others.
"We have been developing RBIO-101 for a little over two years, and we have a timeline to advance RBIO-101 to human clinical trial," he said.
RBIO-101 is based on adeno-associated virus (AAV), which does not cause disease in humans and contains single-stranded genetic material easy for editing. Such features make AAV an ideal vector for gene therapy, which aims to insert a new healthy gene into the human body to replace a faulty gene.
In the case of inherited blindness, the AAV vector carrying the corrective gene is injected in the eye that fails to produce a certain protein. As the vector starts to produce the right protein, the patient will be able to regain vision.
"BCD is a devastating blinding disease. On average, about three to four people become blind every day because of this disease," said Yang.
While RBIO-101 is Reflection Bio's only product to date, Yang said the company is looking at other areas. "We aim to treat more retinal diseases and neurological disorders," he said.
Encouragement at home and abroad
Yang said the firm's new technology is promising and Reflection's efforts come at a time when gene therapy products are now getting approved in the U.S.
"Gene therapy represents one of the cutting-edge technologies in the biomedical field. Last year, the U.S. FDA approved the first gene therapy for treating a rare disease for sale in the country," said Yang.
Yang was referring to Novartis AG's Kymriah (tisagenlecleucel), the only CAR T cell therapy in the U.S. for treating patients, 25 or older, with B-cell precursor acute lymphoblastic leukemia. It received the approval in August 2017.
In the following months, the FDA approved two additional gene therapies, including a product similar to Reflection Bio's RBIO-101.
Luxturna (voretigene neparvovec-rzyl), from U.S. firm Spark Therapeutics Inc., got the green light in December 2017. Also AAV-based, Luxturna is a one-time gene therapy for treating biallelic RPE65 mutation-associated retinal dystrophy, a rare form of inherited vision loss. (See BioWorld, Dec. 20, 2017.)
Also approved last year was Yescarta (axicabtagene ciloleucel), from Kite Pharma Inc. (now part of Gilead Sciences Inc.). It is a CAR T cell therapy for treating adult patients with certain types of large B-cell lymphoma.
Reflection also stands to benefit from current trends in its home country. China issued its first rare disease list in late May, spurring the firm to speed up its work. The list is China's first effort to define which diseases are considered rare. It is expected to help make orphan drugs more affordable and accessible in the country by encouraging companies to develop treatment for those diseases. (See BioWorld, Aug. 15, 2018.)
"We are excited about this recent development in China. This should pave the way for more legislation and regulations related to rare diseases and orphan drugs," said Yang.
He told BioWorld how much of an emergency it is to find treatment for rare diseases.
"About 80 percent of rare diseases are caused by genetic mutations. Rare disease patients shoulder the inevitable odds of genetic mutations for mankind but are often ignored by society and undersupported by public resources," he said.
"There are more than 7,000 rare diseases, more than 90 percent of which still do not have any approved treatment available."