Thelansis

  Ectodermal dysplasias (ED) are a group of more than 180 disorders that affect the outer layer of tissue of the embryo (ectoderm) that helps make up the skin, sweat glands, hair, teeth, and nails.   Etiology- Mutations in  EDA, EDAR, EDARADD, and WNT10A. EDA genes are the most common cause of the disorder, accounting for more than half of all cases.   Epidemiology- Hypohidrotic ectodermal dysplasia is the most common form of ectodermal dysplasia. It is estimated to occur in 1 in 20,000 newborns worldwide.   The competitive landscape of Ectodermal Dysplasia (ED) includes country-specific approved as well as pipeline therapies. Any asset/product-specific designation or review and Accelerated Approval are being tracked and supplemented with analyst commentary. KOLs insights of Ectodermal Dysplasia (ED) across 8 MM market from the centre of Excellence/ Public/ Private hospitals participated in the study. Insights around current treatment landscape, epidemiology, clinica

  Buerger’s Disease (BD) or Thromboangiitis obliterans (TAO) is a nonatherosclerotic, segmental inflammatory disease that most commonly affects the small and medium-sized arteries and veins in the upper and lower extremities. In the characteristic acute-phase lesion, in association with occlusive cellular thrombosis, the acute inflammation involving all layers of the vessel wall led TAO to be classified as a vasculitis. There is no consistent pattern in HLA haplotypes among patients with Buerger’s disease. However, in the European nations, there was a preponderance of HLA-A9 and HLA-B5 antigens. The acute-phase lesion is characterized by acute inflammation involving all coats of the vessel wall, especially of the veins, in association with occlusive thrombosis. Intermediate phase in which there is a progressive organization of the occlusive thrombus in the arteries and veins. Chronic phase or end-stage lesion is characterized by organization of the occlusive thrombus with extensive

A type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK).   The competitive landscape of Anaplastic large cell lymphoma (ALCL) includes country-specific approved as well as pipeline therapies. Any asset/product-specific designation or review and Accelerated Approval are being tracked and supplemented with analyst commentary. KOLs insights of Anaplastic large cell lymphoma (ALCL) across 8 MM market from the centre of Excellence/ Public/ Private hospitals participated in the study. Insights around current treatment landscape, epidemiology, clinical characteristics, future treatment paradigm, and Unmet needs. Anaplastic large cell lymphoma (ALCL) Market Forecast : Patient Based Forecast Model (MS. Excel Based Automated Dashboard) which Data Inputs with sourcing, Market Event, and Product Event, Country specific Forecast Model, Market upta

  Acanthamoeba keratitis (AK) is a rare infection of the cornea that, difficult to diagnose and treat properly, can be a sight-threatening disease. Acanthamoeba is currently divided into twenty-two different genotypes (T1–T22) based on 18s rRNA gene typing. Based on genotypes variations clinical presentation and response to therapy vary. The pathogen is transmitted through corneal contact with a contaminated substance. Most cases seen in humans seem to be associated with contaminated water, soil, or trauma to the eye. The progression of Acanthamoeba keratitis occurs in two main phases. An initial phase where infiltration is limited to the corneal epithelium, and a second phase where the parasite invades the underlying stroma. Once in the stroma, extensive damage to the collagen matrix occurs which provokes intense inflammation. The estimated incidence of cases of Acanthamoeba keratitis with soft contact lens wearers ranges between 4.5 to 7.8 cases per 100,000 population.   The co

  Subarachnoid hemorrhage (SAH) is bleeding into the subarachnoid space—the area between the arachnoid membrane and the pia mater surrounding the brain. Symptoms may include a severe headache of rapid onset, vomiting, decreased level of consciousness, fever, and sometimes seizures. Twenty percent of strokes are hemorrhagic, with subarachnoid hemorrhage (SAH) and intracerebral hemorrhage, each accounting for 10 percent. Subarachnoid hemorrhage (SAH) secondary to rupture of an intracranial aneurysm is a common problem that accounts for approximately 80% of non-traumatic SAHs, 6-8% of all strokes, and 22-25% of cerebrovascular deaths. By time trends, the SAH incidence for 2019 was 7.8 per 100,000 persons, having declined from 1980 when the incidence was 10.2 per 100,000 person-years. ·        In terms of prognosis, one-third of patients are expected to survive with good recovery; one-third generally survive with a disability, and one-third are expected to die ·        So far we do not

Pediatric congenital athymia is an ultra-rare immune disorder in which a child is born without a thymus—an organ that plays a critical role in helping the body learn to fight off infections. Multiple genetic abnormalities, congenital syndromes, and environmental factors are being associated, and the care of these infants is complex. While 22q11.2 deletion-associated with DiGeorge Syndrome (DGS) is the most common genetic defect associated with congenital athymia. FOXN1, PAX1, and others have also been identified as potentially causative. Children with congenital athymia may have repeated, often life-threatening infections because they don’t have enough working T cells (infection-fighting white blood cells) to fight them off. It’s important to know that these infections can be fatal.   The competitive landscape of Pediatric Congenital Athymia includes country-specific approved and pipeline therapies. Any asset/product-specific designation or review and Accelerated Approval are tracked a

Mucormycosis is caused by the fungi belonging to the order Mucorales. Humans acquire the infection predominantly by inhalation of sporangiospores, occasionally by ingestion of contaminated food or traumatic inoculation. The fungi under Mucorales are ubiquitous and morphologically appear as broad, aseptate, or sparsely septate ribbon-like hyphae. Rhizopus arrhizus is the most common agent causing mucormycosis across the globe, followed by Lichtheimia, Apophysomyces, Rhizomucor, Mucor, and Cunninghamella species. Mucormycosis is associated with angio-invasion and high mortality. The infection is increasingly reported in patients with diabetes mellitus, hematological malignancy, solid organ transplants, and corticosteroid therapy. ·        Mucormycosis is associated with a high risk of mortality in 54% to 71% of patients, with mortality depending on body site infected, fungus type, and the patient’s overall condition ·        COVID-19-associated mucormycosis (CAM) is evident in the second

  Microscopic polyangiitis (MPA) is a small vessel vasculitis associated with antineutrophil cytoplasmic antibody (ANCA) that involves mainly kidneys, lungs, and peripheral nerves. MPA can also involve muscles with myalgia, but cases diagnosed by muscle biopsy specimens showing necrotizing vasculitis are rare. MPA can affect people of all ages, but the average age of onset is approximately 50. It affects both men and women, but men may get MPA more often. The disease is more frequent among Caucasians but can affect people of any race or ethnic background. ·        The estimated prevalence ranges between 2.5 to 3.5 cases per 100,000 persons in the United States and the incidence ranges between 0.75 to 1.2 cases per 100,000 persons. The competitive landscape of Microscopic Polyangiitis (MPA) includes country-specific approved and pipeline therapies. Any asset/product-specific designation or review and Accelerated Approval are tracked and supplemented with analyst commentary. KOLs

  Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar ‘kinky’ hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males. MD occurs due to mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions. ATP7A is an energy-dependent transmembrane protein, which is involved in the delivery of copper to the secreted copper enzymes and in the export of surplus copper from cells. Severely affected MD patients die usually before the third year of life. A cure for the disease does not exist, but very early copper-histidine treatment may correct some of the neurological symptoms. ·        Menkes disease is a rare condition with incidence estimates ranging from 0.75 to 1.27 cases per 100,000 live births in the USA. It is an inborn disorder of

  Lyme disease is a multi-organ animal-borne disease, caused by bacteria – spirochetes of the Borrelia species classified as Borrelia burgdorferi (Bb) strain (sensu lato). It can manifest as early localized, early disseminated disease, or late disease. Both the innate and adaptive immune systems contribute to the inflammatory response which results in clinical symptoms. Regardless of the clinical presentation, the vast majority of patients who are treated for Lyme disease with short courses of appropriate antibiotics do extremely well. The clinical presentation varies depending on the stage of the illness and includes erthyma migrans, carditis, central nervous system disease, and arthritis. Regardless of the clinical presentation, most patients with Lyme disease have a resolution of their clinical symptoms when treated with appropriate antimicrobials. ·        The incidence of Lyme disease in the United States ranges between 8 to 11.5 cases per 100,000 people in 2020. The competiti

  Colorectal cancer (CRC) is the 3rd commonest cause of cancer death. It is estimated that 150,750 new cases of CRC will be diagnosed in the US in 2020. Approximately 25% of patients have metastatic disease at diagnosis, approximately 50%-60% of patients diagnosed with CRC further progressed to develop metastatic disease. HER2 overexpression in CRC detected by immune-histochemical (IHC) staining for HER2 protein and in-situ hybridization (ISH) for gene amplification or reverse transcription-polymerase chain reaction (RT-PCR) for overexpression of HER2 RNA. HER2 amplification and KRAS, NRAS, and BRAF mutations are mutually exclusive in advanced CRC. In addition, KRAS exon 2 wild-type metastatic CRC appears to enrich for HER2 amplification in the range of 4% to 9% of cases. The competitive landscape of HER2-Positive Metastatic Colorectal Cancer includes country-specific approved and pipeline therapies. Any asset/product-specific designation or review and Accelerated Approval are tracke

  Granulomatosis with Polyangiitis (GPA) is a systemic ANCA-associated granulomatous vasculitis whose lesions mainly affect the respiratory tract and kidneys. It can occur at any age with a peak at 65-74 years of age. The disease can present with non-specific constitutional symptoms: malaise, myalgia, arthralgia, anorexia, weight loss. It affects different organs, airways, and renal involvement being the most frequent. The involvement of the upper airway is the most common and characteristic (70-100% at the time of diagnosis), mainly at the nasal and sinus levels, and may manifest with nasal discharge, epistaxis, nasal ulcers, perforation of the nasal septum, granulomatous lesions or destruction of facial cartilage with deformation of the nasal bridge, sinus or parasinus inflammation. ·        The annual incidence cases range between 5 to 10 cases per MN population and the prevalence cases range between 56  to 89 cases per million. The competitive landscape of Granulomatosis with P

GM2 Gangliosidosis – Market outlook, Epidemiology, Competitive Landscape and Market Forecast Report – 2020 To 2030 Description: Indication name: GM2 Gangliosidosis GM2 gangliosidosis is an autosomal recessive metabolic disorder due to β-hexosaminidase deficiency. GM2 gangliosidosis is divided into three clinical subtypes according to the age at onset. In general, the later the disease occurs, the more slowly it progresses. Type 1 (infantile type) begins in the first year of life with rapidly progressive diffuse neurological deterioration and death before 4 years of age. GM2 gangliosidosis is caused by deficiency of (beta-1,4 N-acetyl galactosaminidase) hexosaminidase activity. The two isoenzymes are called hexosaminidase A and B. Typical infantile forms of GM2 gangliosidosis are Tay–Sachs disease and Sandhoff disease. ·        The incidence of the Tay Sachs variant in the general population is estimated to be 1.75 cases per 250,000 live births, however, Sandhoff-variant incidence has

  ANCA-Associated Vasculitis (AAV) is a collection of relatively rare autoimmune diseases of unknown cause, characterized by inflammatory cell infiltration causing necrosis of blood vessels. The clinical spectrum of the AAV is broad and hence the presentation can be quite varied, ranging from a skin rash to fulminant multisystem disease. Typical features of GPA include nasal crusting, stuffiness and epistaxis, uveitis, upper respiratory tract involvement, and often, when in the context of active urinary sediment, renal involvement. Patients with MPA are typically older and present with more severe renal disease than GPA together with rash and neuropathy. ·        ANCA-associated vasculitis (AAV) with a worldwide reported annual incidence ranging from 1.7 to 2.89 cases per 100,000 individuals and a prevalence of 12.5 to 19.2 cases per 100,000 individuals. The competitive landscape of ANCA-Associated Vasculitis includes country-specific approved and pipeline therapies. Any asset/prod

  Uveitis is a general term describing a group of inflammatory diseases that produces swelling and destroys eye tissues. These diseases can slightly reduce vision or lead to severe vision loss.   Etiology- Uveitis is caused by inflammatory responses inside the eye.   Epidemiology- According to one estimate, chronic, non-infectious posterior uveitis affects 175,000 people in the United States and 800,000 people worldwide.   The competitive landscape of Uveitis includes country-specific approved as well as pipeline therapies. Any asset/product-specific designation or review and Accelerated Approval are being tracked and supplemented with analyst commentary. KOLs insights of Uveitis across 8 MM market from the center of Excellence/ Public/ Private hospitals participated in the study. Insights around current treatment landscape, epidemiology, clinical characteristics, future treatment paradigm, and Unmet needs. Uveitis Market Forecast : Patient Based Forecast Model (MS