Rare Disease

Rare Disease

Urgent Medical Needs

Many difficult-to-treat diseases, in particular genetic diseases (most of which are rare diseases, also known as orphan diseases) are caused by genetic mutations. Disease-causing genetic mutations are inevitable in the human evolution process. In this sense, patients with genetic diseases shoulder the inevitable odds of genetic mutations for the entire society. Moreover, the risk of genetic disease is not limited to those families which have a genetic disease patient. Many genetic diseases are recessively inherited diseases. Carriers for at least one recessively inherited genetic disease account for 24% of the general population while carriers for more than one genetic diseases account for 5.2%. Therefore, genetic diseases concern every family and the society as a whole. Unfortunately, genetic diseases have been and still are overlooked by the society and under-supported by government funding and public research resources.

Most genetic diseases result in devastating conditions leading to disability or premature death. Lack of treatment options does not only make patients suffer, but also project tremendous burden on their families and eventually on the society, for loss of productivity and costs of long-term care.

The latest scientific breakthroughs, such as gene therapy, are making the development of treatments for rare, genetic diseases and other challenging diseases possible. Gene therapy for certain rare diseases have been approved in the EU and the U.S. in recent years. With dedicated resources and efforts, gene therapy can be developed to treat more diseases to satisfy significant and urgent unmet medical needs of patients suffering from genetic diseases.

Rare Disease Information

From time to time, we will post information on certain rare diseases.
Bietti’s Crystalline Dystrophy (BCD)

BCD is a rare retinal degeneration. BCD was first identified by Italian ophthalmologist Dr. G.B. Bietti in 1937. In BCD, progressive atrophy and degeneration of the retinal pigment epithelium (RPE) lead to symptoms similar to those of other forms of retinal degeneration, including retinitis pigmentosa (RP). Yellow-white crystals are seen in the retina of BCD patients, which may disappear in advanced stages. BCD is caused by mutations in the CYP4V2 gene. Onset usually occurs between early teenage years and the third decade of life, leading to legal blindness by the 3rd to 6th decade of life. Since it is inherited in an autosomal recessive pattern, some BCD patients may have no family history. Based on the BCD incidence rate (1:67,000)[i], BCD is estimated to affect more than 100,000 patients globally. BCD has been reported in patients from Asia, Europe, North and South America, the Middle East, and Africa. It is more common in East Asia, especially among Chinese and Japanese populations. Researchers suggested that BCD may be underdiagnosed because its symptoms are similar to those of other eye disorders that progressively damage the retina.

Treatment options for BCD

Currently, there is no approved treatment for BCD. ReflectionBio is developing a gene therapy product for treating BCD and has received Orphan Drug Designation from the U.S. FDA for our BCD gene therapy product. As the next step, we plan to advance BCD gene therapy into human clinical trial.