Cytoxan (cyclophosphamide) - Rare Disease Advisor
WEBCytoxan ® (cyclophosphamide) is an alkylating agent. It is a potent immunosuppressant, as it depletes regulatory T cells. The 2% solution of cyclophosphamide has a pH varying from 4 to 6. It can be used medically as an antineoplastic agent. It appears as a fine, white, crystalline powder.
Primary Biliary Cholangitis Life Expectancy - Rare Disease Advisor
WEBLife Expectancy Relative to Disease Progression. Currently, serum bilirubin level is the best predictor of survival. In particular, bilirubin levels persistently above 2 mg/dL are associated with a mean survival of 4 years, while values persistently above 6 mg/dL and 10 mg/dL are linked to mean survival times of 2 and 1.4 years, respectively. 5,6.
ANCA-Associated Vasculitis Life Expectancy - Rare Disease Advisor
WEBAntineutrophil 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 ...
Wilson Disease History - Rare Disease Advisor
WEBDr. Samuel Alexander Kinnier Wilson, an American-born British neurologist, first described Wilson disease in his doctoral thesis, which was published in Brain in 1912 (the longest article ever to appear in Brain, at 214 pages).He had submitted the thesis in July of 1911 as a candidate for the degree of medical doctor at the University of Edinburgh and was awarded a gold medal for the ...
Lysosomal Acid Lipase Deficiency Overview - Rare Disease Advisor
WEBLysosomal acid lipase deficiency (LAL-D) is a rare inherited autosomal recessive metabolic disorder characterized by a defective breakdown of body lipids. 1 It is caused by abnormal mutations in the LIPA gene that result in reduced or absent enzymatic function, precipitating the disruption of intralysosomal degradation of cholesteryl esters and ...
Dravet Syndrome Guidelines - Rare Disease Advisor
WEBThe guidelines for the diagnosis and treatment of Dravet Syndrome (DS) have been developed by the Dravet Syndrome Foundation 1 based on information from the 2017 North American Consensus Panel study, 2 the 2021 International Consensus Panel Study, 3 and the 2022 International League Against Epilepsy (ILAE) Classification and Definition for ...
Long Chain Fatty Acid Oxidation Disorder (LC-FAOD)
WEBIn severe cases of the disease, long chain fats should be restricted to 10% and MCT to 30% of the energy intake while in moderate or mild cases, half of the fat calories should come from MCT and half from long chain fats. Around 15% of energy intake should come from proteins. 6. In children older than age 1 and in adults, 10% to 20% of total ...
Sickle Cell Disease Life Expectancy - Rare Disease Advisor
WEBOct 17, 2023 · A study published in 2019 estimated the life expectancy of adults with SCD to be 54 years, which is approximately 20 years shorter than that of adults without SCD. 1 A study published in 2023 reported similar findings, stating that the average life expectancy of Medicare and Medicaid beneficiaries with SCD was approximately 52.6 years.
Cystic Fibrosis Life Expectancy - Rare Disease Advisor
WEBCystic fibrosis (CF) is a rare genetic disorder affecting more than 30,000 individuals in the United States and 80,000 globally. 1,2 The inheritance pattern is autosomal recessive. CF is characterized by the secretion of thick, viscous mucus, which accumulates and causes dysfunction in multiple organs, especially those of the gastrointestinal, pulmonary, and genitourinary systems. 2
Skyclarys - Rare Disease Advisor
WEBOct 30, 2023 · Skyclarys ® (omaveloxolone) is a nuclear factor erythroid 2-related factor 2 (Nrf2) activator and the first therapy approved by the U.S. Food and Drug Administration (FDA) for the treatment of Friedreich ataxia (FA). It was approved by the FDA on February 28, 2023, and is indicated for the treatment of FA in adults and adolescents aged 16 or more years. 1,2