GENE THERAPY – A Boon for Retinitis Pigmentosa
Retinitis Pigmentosa (RP), an inherited disorder, although roughly affects 1 in 4,000 people, worldwide, results in the loss of peripheral vision in people suffering from this disease. While more than 200 causative mutations of RP have been previously discovered in more than 50 different genes, the molecular defect is distinguishable in just about half of the affected patients.
The National Organization for Rare Disorders (NORD) defines Retinitis Pigmentosa as a large group of inherited vision disorders that causes progressive degeneration of the retina. The initial symptoms of RP, which belongs to a group of pigmentary retinopaths, is night blindness in young adults. Furthermore, the disease is accompanied by early degeneration of the highly sensitive rod photoreceptors, followed by a progressive decline in daylight central vision, due to loss of function of the less-sensitive cone photoreceptors. Research, till date, has blamed different types of gene mutations that deliver defective messages to the retinal cells leading to their progressive degeneration. The origin of Retinitis Pigmentosa, in most of the cases, is due to a recessive gene; however, in some instances, autosomal dominant and X-linked gene mutations have also been found.
Considering the different forms namely syndromic, nonsyndromic, systemic, and others, RP is prevalent in the general population in different geographies. As per DelveInsight’s Retinitis Pigmentosa – Market Insights, Epidemiology and Market Forecast-2028 report, the total Retinitis Pigmentosa prevalence revealed inconsistent figures, around one case for each 2500–7000 persons.
In view of that, RP has been labelled as rare or orphan disease, despite several reasons, it may be well-thought-out as very atypical within this group of pathologies; first given that a worldwide shared consensus on the definition of rare disease does not exist, additionally due to the fact that RP signifies one of the most common causes of blindness or severe low-vision in people from 20 to 60 years old.
In major pharmaceutical markets, like the United States, European-5 countries, Japan and others, the number of people suffering from Retinitis Pigmentosa varies significantly, and the data is widely available. In other countries, such as those in ‘Pharmerging’ markets, the available epidemiological data as regards of RP are still fragmentary and/or just partially accessible.
For instance, in Iran, one of the Middle-Eastern countries, Retinitis Pigmentosa is a common disease. The findings from the studies conducted in the cities of Shiraz and Shahroud revealed that RP is the first and the third most common cause of visual impairment, respectively. Similarly, a study from another Middle-East country, Kuwait, conducted by Al-Merjan et al., showed that RP was the leading cause of blindness, followed by congenital anomalies and optic atrophy. Furthermore, the rate of retinitis pigmentosa was three times as high as in the younger subgroup. However, in Saudi Arabia, limited epidemiological surveys concerning this problem have been carried out, thereby indicating that the prevalence and cause of the disease vary in different geographical locations of the country.
Despite the increasing prevalence of the RP, over the years, currently, no treatment is available to cure RP or arrest its progress. In several Health Systems, the overall management of the RP is difficult due to some unresolved important epidemiological issues for the lack of a shared and organized RP network, which is unavoidably related to risk of (i) quantitative underestimation of the disease; and (ii) limited socio-sanitary utility of the informative data included in the disease’s register.
Taking into account the complexities integral to an all-embracing approach toward RPs, the dearth of an adequate epidemiologic register may have a very negative influence on the diagnostic, preventive, therapeutic, rehabilitative, and psychological management of many patients suffering from these dramatic eye diseases.
However, International clinical trials, to find effective treatments, are showing great promise, and several organizations are determined to bring these promising trials to Pharmerging markets. Moreover, the researchers are doing their part by exploring exciting new approaches to stop the progression of vision deterioration. These include gene therapy, artificial retinas, stem cells, and many other innovative approaches.
A groundbreaking therapy for blindness accredited with restoring sight in people with formerly untreatable vision loss is being offered in UAE. The procedure, called bone marrow fraction therapy, was developed by a retinal surgeon based in the United States. Moreover, for two genes causing autosomal recessive RP, a trial for the MERTK gene has been performed in Saudi Arabia.
Talking about the gene therapy, Luxturna (Spark Therapeutics) became the first gene therapy approved in the United States, targeting diseases caused due to mutations in RPE65 gene, which can produce Leber’s congenital amaurosis or RP. Furthermore, the under-secretary of the Ministry of Health and Prevention, MoHAP, revealed the registration of Luxturna, in the UAE. The registration of this therapy is due to the part of MoHAP’s mechanism for its accelerators in order to weigh and further approve the world’s breakthrough drugs, which is in accordance with the Ministerial Decree No. 28 of 2018. Moreover, this is also a part of the UAE’s ongoing support for the global initiative, launched by the WHO, ‘Vision 2020: The Right to Sight‘, which aims to eliminate avoidable blindness by the year 2020. With the launch of this gene therapy, a significant turning point is witnessed, which would help patients recover from a lot of complex diseases.
In conclusion, Retinitis Pigmentosa is a significant burden on affected persons, their caregivers, and society at large, which further increases with the degree of visual impairment. Public and private investments to promote research and develop new Retinitis Pigmentosa treatments will benefit both patients and the economy. When it comes to a more eloquent procedure for the treatment or diagnosis of RP, there is a significant lack of treatment guidelines in the major geographies. This makes it hard for the practitioners to decide the treatment courses for RP patients and this further delay the on-time treatment of the disease. The high unmet need associated with the disease has driven vendors to conduct R&D, which has fueled the pipeline for the treatment of RP. The launch of few multiple-stage pipeline products will dominate the in market, reducing the market share of off-label products that are being currently used, in the near future.
Source: DelveInsight – www.delveinsight.com