Myasthenia Gravis Prognosis - Rare Disease Advisor
Myasthenia gravis (MG) is a rare autoimmune disease in which the body attacks components of the neuromuscular junction (NMJ), causing weakness of voluntary skeletal muscles and fatigue with repetitive movements. MG especially affects the eyes, peripheral extremities, bulbar system, and respiratory system. 1 General Prognosis. In general, most individuals with MG who receive the appropriate ...
Muscular Dystrophy History - Rare Disease Advisor
The first person to report on muscular dystrophy was Sir Charles Bell, a Scottish surgeon, anatomist, physiologist, and neurologist, who wrote an essay in 1830 about a disease that led to progressive muscle weakness in boys. 1. Six years later, 2 Italian physicians, Giovanni Semmola and Gaetano Conte, wrote about 2 brothers who had symptoms of ...
IgG4-Related Disease Life Expectancy - Rare Disease Advisor
Immunoglobulin G4-related disease (IgG4-RD) is a rare, immune-mediated, fibroinflammatory condition that may affect multiple organs, especially the pancreas, salivary glands, lacrimal glands, orbits, biliary tract, lungs, and retroperitoneum. It leads to masses or inflammatory lesions and is often associated with elevated serum IgG4 ...
ANCA-Associated Vasculitis Life Expectancy - Rare Disease Advisor
Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a heterogeneous group of rare autoimmune diseases in which ANCA target and activate neutrophils. These, in turn, attack the cells lining small blood vessels, causing inflammation and damage. 1. Depending on which organ or system is affected, the symptoms of AAV can vary ...
FDA, Industry: 2024 Will Be 'Breakout Year' for Gene ...
January 10, 2024. US and European regulators could approve up to 17 gene therapies this year, with a top official at the US Food and Drug Administration (FDA) predicting that 2024 will be a “breakout year” in addressing key challenges to developing cell and gene therapies—especially for rare disorders. That upbeat forecast came during the ...
Systemic Sclerosis Life Expectancy - Rare Disease Advisor
Systemic sclerosis (SSc) is a rare connective tissue disease that is characterized by inflammation, vasculopathy, and excessive fibrosis. SSc can cause thickening of the skin and internal organs, as well as damage to the blood vessels, muscles, and joints. The extension of skin lesions in SSc allows for further classification of the disease into limited cutaneous and diffuse cutaneous SSc. 1
Pompe Disease History - Rare Disease Advisor
Pompe disease, also known as acid maltase deficiency or glycogen storage disease type II, is a rare genetic disorder characterized by a deficiency or absence of the lysosomal acid alpha-glucosidase enzyme (GAA).GAA normally cleaves glycogen to form glucose. Abnormalities of the GAA enzyme due to mutations in the GAA gene result in an accumulation of glycogen in tissues, especially cardiac and ...
Lennox-Gastaut Syndrome Life Expectancy - Rare Disease Advisor
Life Expectancy. Lennox-Gastaut syndrome (LGS) is a severe form of childhood epilepsy characterized by a triad of symptoms, including multiple seizure types, diffuse slow spike-and-wave patterns on electroencephalography (EEG), and cognitive impairments that are often severe. 1 The seizures experienced by patients with LGS are often resistant ...
First Patient Dosed in Phase 3 Study of Fazirsiran for AATD-LD
Apr 4, 2023 · May 1, 2023. Arrowhead Pharmaceuticals announced the first patient treated in Takeda’s phase 3 REDWOOD trial of fazirsiran (TAK-999/ARO-AAT) for patients with alpha-1 antitrypsin deficiency (AATD)-associated liver disease (AATD-LD). The study start, announced via news release, triggered a $40 million payment from Takeda to Arrowhead.
Myasthenia Gravis Differential Diagnosis - Rare Disease Advisor
Differential Diagnosis. Myasthenia gravis (MG) is a rare autoimmune neuromuscular disorder in which the immune system attacks components of the postsynaptic neuromuscular junction (NMJ), affecting nerve-to-muscle signal transmission. This affects the contractility and endurance of voluntary skeletal muscles, especially the eye, bulbar, neck ...