Cushing’s syndrome, also known as hypercortisolism, is an endocrine disorder that occurs due to abnormally high levels of the hormone cortisol production in the body. Cushing’s syndrome is broadly classified as endogenous and exogenous Cushing’s syndrome. Exogenous Cushing’s syndrome occurs due to excessive use of medications like glucocorticosteroids while endogenous cushing syndrome may be due to ACTH dependent causes or ACTH independent causes.
The incidence is around 1.2-1.7 per million per year for Cushing’s disease (CD), 0.6 per million per year for adrenal adenomas and 0.2 per million per year for adrenal carcinomas. All the other types of CS are very rare. Endogenous CS is more common in women. The most common types are ACTH-dependent CS (80-85%), of which CD constitutes 80% of cases and the ACTH-secreting pituitary adenomas and ectopic ACTH constitutes the rest 20% cases, whereas corticotropin-releasing hormone is diagnosed as a cause in around less than<1 cases.
Cushing syndrome is a rare disease with a prevalence of around 39 people per million. A total of 40,398 cases of Cushing’s Syndrome were diagnosed in 2015 and the total number of Cushing’s syndrome cases is expected to reach 41,683 in 2023 in the 7 major markets-United States, EU5 (France, Germany, Italy, Spain and United Kingdom) and Japan.
Treatment of Cushing’s syndrome depends on whether it is exogenous or endogenous, and the treatment can be broadly given as line of treatments. In first line of treatment, trans-sphenoidal surgery is considered in cases where Cushing’s syndrome onset was seen due to underlying tumor or pituitary stimulation- which causes ACTH production leading to Cushing’s syndrome. Glucocorticoid replacement and discontinuation is also considered as possible treatment options in case of exogenous Cushing’s syndrome. In second line of treatment, radiotherapy, adrenalectomy and drug therapies are considered. The medical therapy for Cushing’s syndrome includes drug therapies- which are broadly classified into Steroidogenesis inhibitors, Pituitary-directed drugs and combination therapies.
Sjögren’s syndrome was named on Henrik Sjögren who described this indication in 1933, and is a chronic autoimmune disease in which body’s own immune system and white blood cells attack moisture producing glands such as tear and salivary glands, leading to dry mouth and eyes. There are certain other symptoms involved, such as chronic cough, dryness of skin, vaginal dryness, numb feeling in arms and legs, muscles and joint pains and problems related to thyroid.
The number of patients suffering from sjogren’s syndrome is increasing and so is the awareness about the syndrome. All this is leading to an increased demand for advanced treatment of this disease. Growing geriatric population, increasing research and development activities and government initiative are some of the factors that drive the growth of the sjogren’s syndrome treatment market. At present, there are around 20+ pipeline drugs for this indication with only 2 drugs in Phase III trials, while majority of the drugs are in Phase II stage of development. Rigorous research and development activities are being conducted to help launch innovative treatments.
Companies operating in conditions related to dry eye conditions are the ones entering into mergers and acquisitions with other companies, to expand their product offerings. In 2014, Nicox S.A., a French company, launched AdenoPlus, a medical device for the detection of adenoviral conjunctivitis, as well as Xailin, a range of tear lubricant products. 2015 saw Allergan plc completing its acquisition of Oculeve Inc. to develop its business in the dry eye syndrome treatment market. Apart from this acquisition, Allergan, Inc. also introduced synthetic tear Refresh Optive gel drops to deliver artificial tear alternative for relieving dry eye symptoms. Global sjogren’s syndrome treatment market is anticipated to register a healthy CAGR. It is anticipated that Asia-Pacific region is a prospective market for sjogren’s syndrome treatment because of growing healthcare infrastructure, increase in disposable income and an increasing number of patients suffering from autoimmune diseases which might lead to sjogren’s syndrome.
Recent technical advances have led to the demonstration of the molecular basis of various ocular diseases. Gene transfer into ocular tissues has been demonstrated with growing functional success and may develop into a new therapeutic tool for clinical ophthalmology. There are prospects for commercially available gene therapies for retinal disease in the near future and one thing is for certain that the future is brighter for thousands of patients with inherited retinal degenerations potentially amenable to treatment with this technology.
Gene therapy is the addition of new genes to a patient’s cells to replace missing or defective copies, to restore or impart a new function to overcome a disease usually of genetic origin. Over the past several years, the unlocking of the human genome and the discovery that certain genes, or lack thereof or genetic defects therein, can be the cause of certain diseases has led to the ability to identify genes associated with retinal and other ocular diseases. According to the eyeGene National Ophthalmic Disease Genotyping Network, more than 100 ocular gene types have been identified, and the number increases yearly. To date, the genes for some 35 ocular disorders have been identified. Ophthalmologic disorders are responsible for 48% of the population becoming totally blind. In addition, more than 60 million people suffer from glaucoma and an increasing aging population is also resulting in more people suffering from refractive errors. It is estimated that in the U.S. and Europe, refractive errors affect more than 30% of the population aged 40 or older. Ocular gene therapy research has made rapid progress in the past few years. Although laboratory and animal experiments started were successful many years ago, the application in human beings took very long due to several biological and regulatory hurdles. However, the recent successful gene therapy clinical trials are promising and encouraging.
The eye is an attractive target for gene therapy because of its accessibility and its immune privilege. Significant advancements have been made in understanding the genetic pathogenesis of ocular diseases, and gene replacement and gene silencing have been implicated as potentially efficacious therapies. Recent improvements have been made in the safety and specificity of vector-based ocular gene transfer methods. Proof-of-concept for vector-based gene therapies has also been established in several experimental models of human ocular diseases. Novel methods are being developed to enhance the performance and regulation of recombinant adeno-associated virus and lentivirus-mediated ocular gene transfer. Gene therapy prospects have advanced for a variety of retinal disorders, including retinitis pigmentosa, retinoschisis, Stargardt disease and age-related macular degeneration. Advances have also been made using experimental models for non-retinal diseases, such as uveitis and glaucoma.
Current and possible candidates for gene therapy in the field of Ophthalmological disorders include Leber’s Hereditary Optic Neuropathy (LHON) (Leber optic atrophy), Juvenile Macular Degeneration (Stargardt Disease) and Ocular Pain etc. The three main types of gene therapies used in the field of ophthalmological disorders are gene replacement for loss-of-function mutations, gene knockdown for gain-of-function mutations, and gene enhancement/knockdown for non-monogenic diseases. However, all of these approaches have historically been subject to the same limitations: 1) how to deliver the vector into the affected cells 2) how to achieve broad distribution throughout the tissue of interest 3) how to maintain persistent transgene expression and functional rescue and 4) how to avoid both local and systemic toxic responses. Inspite of this gene therapy holds the promise of curing ocular diseases, and improving the quality of life for millions who suffer from visual impairments.
Many companies are investing in and researching on this field using gene therapy due to its promising effects. Large Pharmaceutical and Biotech giants, such as Applied Genetic Technologies Corporation (AGTC), Oxford Biomedica, and Pfizer etc., are operating in the field of ophthalmologic disorders in the gene therapy domain. A growing number of partnership between companies in drug development for example between Sanofi and Oxford Biomedica etc., are driving the new gene therapy research. The industry’s collective pipeline is brimming with 300+ therapies for various therapeutic areas. The recent success of gene replacement therapy for ophthalmological disorders is a big step forward in the field of genomic medicine. These results have enthused the medical community and basic scientists equally and have unveiled the potentials that is in store for the future of medicine. Once these experiments are refined and tailored to the needs of these patients with unambiguous success, nearly 500 eye genetic diseases and 1500 genetic diseases in other parts of the body could be potentially cured.
DelveInsight’s Gene Therapy Reports cover the entire gene therapy market insights for ophthalmologic disorders including technology assessments, licensing opportunities, collaborations, market trends, pipeline coverage and competitive landscape. The report essentially provides DelveInsight’s proprietary market and pipeline analytics which identifies the front runners in this therapeutic area. It also identifies the potential market movers and future regulatory landscape.
Gene Therapy: The “Promise” to cure Gastrointestinal disorders!
Gastrointestinal disorders refer to diseases involving the gastrointestinal tract, namely the esophagus, stomach, small intestine, large intestine and rectum, and the accessory organs of digestions, the liver, gallbladder, and pancreas. Gastrointestinal diseases which might benefit from medical care are very common, affecting around millions of Americans each year. The rapid progress in our understanding of some of the molecular mechanisms involved in the pathogenesis of cancer and metabolic disorders, coupled with the development of gene delivery vector technology, have urged us to consider novel genetic approaches to gastrointestinal diseases.
Gene therapy consists of the introduction of genetic material into cells for a therapeutic purpose. A wide range of gene therapy vectors have been developed and used for applications in the field of gastrointestinal disorders. In this field gene therapy has produced considerable expectation as a potential tool in the management of conditions that lack effective therapy including non-resectable neoplasms of the liver, pancreas and gastrointestinal tract, chronic viral hepatitis unresponsive to interferon therapy, liver cirrhosis, and inflammatory bowel disease. Moreover, the intestinal tract has many features that make it an attractive target for therapeutic gene transfer like: (a) easy accessibility via the intestinal lumen; (b) large surface area of the epithelium; (c) the possibility of in situ gene transfer by endoscopy; (d) known location of stem cells within the intestinal crypt, (e) intestinal cells can secrete foreign protein into the circulation which could act as a promising strategy for the treatment of systemic diseases, such as haemophilia.
Low disease awareness, poor diagnosis rates, combined with a lack of pharmaceutical industry involvement, has kept gastrointestinal diseases away from the limelight. But this is changing as evidenced by companies such as Digna Biotech, Sylentis S.A. and many more which are operating in the field of gastrointestinal disorders in the gene therapy domain. Many companies have started investing in and researching on gene therapy as it has the potential to become a lucrative market. Moreover, animal models of human diseases and pilot clinical studies clearly show that there is a future for genes to be used as curative drugs.
DelveInsight’s Gene Therapy Reports cover the entire gene therapy market insights for gastrointestinal disorders including technology assessments, licensing opportunities, collaborations, market trends, pipeline coverage and competitive landscape. The report essentially provides DelveInsight’s proprietary market and pipeline analytics which identifies the front runners in this therapeutic area. It also identifies the potential market movers and future regulatory landscape.