Patient-driven nonprofit and biotech company share their personal stories about a rare disorder that leads to blindness in awareness campaign focused on finding a treatment
With more than 100,000 patients losing sight to Bietti’s Crystalline Dystrophy (BCD) worldwide, Invincible Vision and ReflectionBio® have joined forces to preserve vision of those impacted. Today, ahead of World Rare Disease Day on February 28, the patient-led nonprofit and biotech company are launching their inaugural awareness and fundraising campaign, BY PATIENTS, FOR PATIENTS™. With a goal of raising $100,000 in 2021, the campaign will fund new patient resources, continued research and help the organizations take critical steps toward clinical trials in their search for a treatment for BCD.
Impacting 1 in 67,000 people worldwide, BCD is a rare, often misdiagnosed eye disease causing progressive retinal degeneration. While onset can begin as early as teenage years, most patients are not typically diagnosed until their late twenties or thirties. BCD is sometimes described as "sparkling retina" by eye doctors due to the presence of yellow-white crystals in the retina, and also in the cornea in some cases. However, retinal crystals may not be obvious in early- or late-stage patients. BCD can be misdiagnosed as Retinitis Pigmentosa (RP), Stargardt Disease, Choroideremia, dominant forms of RPE65 or late-onset retinal degeneration (LORD). BCD is caused by mutations in the CYP4V2 gene. It is inherited in an autosomal recessive manner.
"Right now, our top priority is to raise awareness of BCD so it can be correctly diagnosed," says Ismail Ceylan, founder of Invincible Vision. "I know first-hand how scary this diagnosis can be, which is why Invincible Vision is committed to helping patients and their families get the support they need from day one."
To further support the BCD community, Invincible Vision is expanding its online resource center this month to include:
live monthly support calls for patients and families,
physician videos to help with diagnosis,
more patient stories, and
a global list of doctors with BCD-related experience.
Eventually, BCD leads every patient to legal blindness – but there is new hope. Ongoing gene therapy research, driven by patient-led biotech company ReflectionBio®, has shown promise for a treatment. ReflectionBio® is making preparations for advancing BCD gene therapy into human clinical trials. Moreover, ReflectionBio® is conducting research to estimate BCD prevalence in different subpopulations.
"BCD gene therapy rescued retinal cell death in preclinical studies. It brings hope to prevent thousands from going blind, a painful process my sister and I have personally experienced," said Richard Yang, a BCD patient and founder and CEO of ReflectionBio®. "With our BY PATIENTS, FOR PATIENTS™ approach, we are proud to partner with Invincible Vision in this global campaign."
To support Invincible Vision and ReflectionBio in their mission to develop a treatment for BCD, find a physician, learn more about BCD or get support from the BCD community, please visit www.InvincibleVision.org.
About Invincible Vision
Invincible Vision is a patient-led organization focused on serving the Bietti’s Crystalline Dystrophy (BCD) community. Founded in 2019, Invincible Vision is committed to raising awareness of BCD to accelerate research for a treatment while also supporting its global community of patients, family, and friends. For more information on Invincible Vision, please visit www.InvincibleVision.org
Reflection Biotechnologies (ReflectionBio®) is a patient-driven biotechnology company focusing on the research and development of gene therapy and other breakthrough treatments for rare ocular diseases. ReflectionBio’s AAV-based gene therapy for treating Bietti's Crystalline Dystrophy (BCD) has been granted Orphan Drug Designation by the U.S. FDA. ReflectionBio® created and applies the BY PATIENTS, FOR PATIENTS™ approach for patients to combine efforts in driving research and development to help ourselves and others. For more information on ReflectionBio®, please visit www.ReflectionBio.com
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Founder & President
Richard R. Yang
Founder & CEO